J Genet Counsel
DOI 10.1007/s10897-009-9269-1
PROFESSIONAL ISSUES
Prenatal Testing for Down Syndrome: Comparison
of Screening Practices in the UK and USA
Dagmar Tapon
Received: 19 February 2009 / Accepted: 15 October 2009
# National Society of Genetic Counselors, Inc. 2009
Abstract Prenatal testing for Down Syndrome is a topic
covered in every genetic counselor’s training as it constitutes
the main workload of genetic counselors in prenatal settings.
Most Western countries nowadays offer some type of testing
for Down Syndrome. However, practices vary according to
country with regards to what tests are offered, insurance
coverage and the legal situation concerning the option of
terminating an affected pregnancy. In view of the growing
interest in international genetic counseling issues, this article
aims to compare prenatal testing practices in two English-
speaking countries: the United Kingdom and the United States
of America. A case will be presented to highlight some of the
differences in practice. The topic underlines important
implications for genetic counseling practice, such as patients’
understanding of testing practices, risk perception, counseling
provision and impact of prenatal testing results.
Keywords Down Syndrome . Trisomy 21 . Prenatal testing .
Screening practices . Genetic counseling
Introduction
Down Syndrome is the most common genetic cause of
learning disability with a frequency of about 1 in 700
births. It is caused by an extra copy of chromosome 21. A
correlation with increased age of the mother is well
documented (Penrose 1933; Cuckle et al. 1987). As a result
of this high prevalence, testing for Down Syndrome
constitutes the major work load of genetic counselors in
D. Tapon (*)
Centre for Fetal Care, Queen Charlotte’s and Chelsea Hospital,
Du Cane Road,
London W12 0HS, Great Britain
e-mail: d.tapon@imperial.ac.uk
prenatal settings and is therefore an important part of every
genetic counseling student’s training.
Prenatal testing for Down Syndrome can have several
aims. One aim is preparation, a) to plan management of the
pregnancy and delivery, and b) psychologically for the
arrival of a child with special needs. The latter could
include for example arranging special child care, making
career decisions or getting more information about the
condition before the baby arrives. A second aim could be to
plan adoption for the baby. The third goal of prenatal
testing is to enable parents to make a decision about
whether to continue the pregnancy.
Screening and diagnostic tests for Down Syndrome have
been available for several decades and continuous research
has led to the development of new testing modalities.
Different countries adopt testing practices conforming to
national committees reviewing available evidence and na-
tional screening statistics. Guidelines for best practice
therefore evolve differently in different healthcare systems.
Testing practices vary between countries with respect to what
tests are offered, insurance coverage, pre-test counseling and
the legal situation for terminating affected pregnancies.
More and more genetic counselors work in countries
other than their country of origin (or training) and might
therefore be exposed to testing practices that differ from
those the genetic counselor is familiar with. In addition,
patients are becoming more knowledgeable about testing,
either through the internet or by temporarily living abroad,
and might request tests they have heard or read about.
Knowledge of testing practices not only locally but on a
more global level can therefore help genetic counselors to
be better prepared and better respond to such requests. A
careful analysis of the relative merits/failings of each
system may also aid those involved in developing testing
pathways and guidelines.

This article compares several aspects of testing for Down
Syndrome in two countries: the situation in the United
Kingdom (UK) will be compared to practices in the United
States of America (USA). A case of an American patient
who had testing in the UK and was seen by a genetic
counselor who had worked in both countries will be
presented to highlight some of the differences.
Prenatal Testing for Down Syndrome
Historical Considerations
Two types of testing modalities for Down Syndrome are
available: screening and diagnostic tests. Screening tests
identify fetuses at high risk for this disorder using certain
ultrasound and/or serum biochemical markers with varying
false positive and false negative rates. Diagnostic testing leads
to generally reliable positive identification of affected fetuses
but can currently only be achieved by invasive testing, such as
chorionic villus sampling (CVS) or amniocentesis. For CVS,
generally carried out between weeks 11 to 14 of gestation,
tissue from the placenta is removed for testing. Amniocentesis
is performed after 15 weeks; amniotic fluid is aspirated and
fetal cells recovered for chromosome analysis. Both diagnostic
tests carry an increased risk of miscarriage, usually quoted as
approximately 1–2% (Tabor et al. 1986; Jackson et al. 1992).
Screening for Down Syndrome to determine those at
high risk was historically only carried out by recording the
mother’s age and offering diagnostic testing to a certain
group, i.e. those over age 35. However, such testing detects
only 30–50% of fetuses with Down Syndrome (depending
on the cut-off age for offering diagnostic testing) and will
lead to the loss of many healthy fetuses through invasive
testing (Cuckle et al. 1987). Biochemical screening started
Table 1 Comparison of Screening Tests
Marker:
1st trimester 2nd trimester
(taken at 11weeks) (taken at 14–20weeks)
Test (with maternal age): NT PAPP-A hCGa AFP hCGa
NT √ 70
Combined √ √ √ 86
Double √ √
Triple √ √
Quadruple √ √
Serum Integrated √ √ √ √
Integrated √ √ √ √
a
hCG can be measured in either the first or the second trimester
b
Wald NJ, Rodeck C, Hackshaw AK, Rudnicka A (2004) SURUSS in perspective Br J Obstet Gynaecol 111, 521–31
Tapon
in the 1980s with the discovery that alpha-fetoprotein
(AFP) levels in maternal blood showed different patterns in
normal pregnancies versus those affected with chromosom-
al abnormalities (Merkatz et al. 1984; Cuckle et al. 1984).
AFP was already known to be a marker elevated in
pregnancies affected by neural tube defects (Cowchock
and Jackson 1976) and as such was widely used until
diagnosis of neural tube defects by ultrasound scanning
became more accurate (Norem et al. 2005). Further research
into Down Syndrome screening added serum human
chorionic gonadotrophin (hCG) (Bogart et al. 1987),
followed by unconjugated estriol (UE3) (Wald et al.
1988). All three hormones were traditionally measured in
the second trimester.
In the early 1990s, a search for tests that could be carried
out earlier in gestation led Professor Kypros Nicolaides to
the discovery that fetal nuchal translucency (NT) thickness,
which can be measured by ultrasound scanning in the first
trimester (10–13 weeks of gestation), allowed the identifi-
cation of Down Syndrome pregnancies: initial studies in
high risk patients (i.e. of advanced maternal age, or with
previous chromosomal abnormality) estimated a high
detection rate (DR—proportion of affected pregnancies that
are screen positive) of over 80% at a 5% false-positive rate
(FPR—proportion of unaffected pregnancies that are screen
positive) (Nicolaides et al. 1994).
More recent additions to the serum markers include
pregnancy associated plasma protein A (PAPP-A) in the first
trimester (Wald et al. 1992; Bersinger et al. 1995) and
inhibin, another second trimester marker (Dalgliesh et al.
2001). Some laboratories began adding different markers
together, giving rise to the combined test (NT, PAPP-A and
hCG in the first trimester) or Integrated testing (a combina-
tion of first and second trimester markers). Table 1 gives a
summary of the most commonly used screening tests.
Detection Rate False positive Rate
(DR) (%) at 5% FPRb (FPR) (%) at 85% DRb
UE3 inhibin
15
4.3
71 13
√ 77 9.3
√ √ 83 6.2
√ 87 3.9
√ √ 94 0.9
Prenatal Testing for Down Syndrome in the UK and USA
Other screening approaches have recently been suggested
to improve screening performance: In stepwise sequential
screening, women with a positive first trimester screening
result are directly offered CVS, with the remainder continuing
to second trimester serum screening that is combined with the
first result to identify further high risk women to improve
detection rates (Benn et al. 2007). In contingency screening,
second trimester testing is contingent on first trimester
results: women with a high risk first trimester result are
offered diagnostic testing, those with a very low risk are
reassured, while only those with an intermediate result
continue to have second trimester serum testing. This
approach is estimated to allow the majority of women to
complete screening in the first trimester (Wright et al. 2004).
Several ultrasound markers are currently studied for their
usefulness in improving first trimester screening perfor-
mance. These include measurement of the fetal nasal bone
(Cicero et al. 2001) and increased resistance in the ductus
venosus (Borrell et al. 2005). However, the usefulness of
these markers for screening on a population level is still
being investigated (Malone et al. 2004; Senat et al. 2003).
Prenatal testing for Down Syndrome is currently available
in many countries, however testing practices differ consider-
ably (for a comparison of European countries see Boyd et al.
2008). Testing in the United Kingdom and the USA will be
compared in some detail in the following paragraphs.
Testing Practices in the United Kingdom (UK)
For most of the 1990s, Down Syndrome testing offered to
pregnant women in the UK depended on hospital policy
and stakeholder funding and was subject to local variation
(Wald et al. 1999. A large survey initiated by the National
Screening Committee (NSC) in 2001 found large discrep-
ancies in the nature of tests, if any, being offered to patients
(National Screening Committee 2002). The Department of
Health issued guidelines in 2001 stating that all women
should be offered screening regardless of age (DOH Chief
Executive Bulletin No. 84 2001).
A Health Technology Assessment (HTA) review of
screening for Down Syndrome was published in 2003: the
Serum, Urine and Ultrasound Screening study (SURUSS)
(Wald et al. 2003). This prospective study of over 47,000
pregnancies was the first to compare different screening
tests and determine their efficacy, safety and cost-
effectiveness. The study was conducted in 25 maternity
hospitals across the UK. SURUSS concluded that the
Integrated test had the best detection and false positive
rates while providing the best cost-effectiveness, followed
by serum integrated, combined and quadruple testing.
Based on this report, the National Screening Committee
published a model of best practice on screening for Down
Syndrome in November 2003, recommending that by 2004/
05 women be offered a screening test with at least a 60%
detection rate (DR) at a 5% false positive rate (FPR—
proportion of unaffected pregnancies that are screen
positive) (Model of Best Practice 2003). The best practice
model also called for a continuing improvement in
screening, aiming for a detection rate of greater than 75%
at a false positive rate of less than 3% by 2007. These
guidelines were supported by the Genetics White Paper
(2003), National Institute of Clinical Excellence guidance
(NICE guidance 2003) and the Maternity Services’ Nation-
al Service Framework (National Service Framework for
Children Young People and Maternity Services 2003).
Currently, the type of screening test offered is still
subject to regional variation (see http://fetalanomaly.screen
ing.nhs.uk/localscreening for a comparison map). Not every
unit is, for example, able to offer Nuchal Translucency
scanning due to a shortage of correctly trained ultrasound
sonographers or ultrasound machines. However, Health
Trusts (public hospitals) are actively aiming to implement
screening tests that comply with the detection and false
positive rates recommended by the National Screening
Committee guidelines.
Since May 2007, invasive testing is generally only
offered to those found to be in the high risk group after
screening. Amniocentesis by maternal request (i.e. after low
risk result or without prior screening) is no longer funded
by the National Health Service (NHS—the government
organization responsible for public healthcare provision for
the majority of the British public) in line with the
philosophy that age alone must not be used as a screening
test and that all women receive uniform care regardless of
age. Women who are not in the high risk group but request
diagnostic testing generally have to pay for this through
private funding.
In 2008, the National Screening Committee published
policy recommendations for 2007–2010 (Fetal Anomaly
Screening Programme Policy 2008). The updated model
recommends screening tests with a 90% detection rate and a
2% false positive rate by 2010. This is to be achieved using
the same NT and biochemistry markers as at present, but by
applying new methodologies like Repeated Measures
(repeatedly measuring serum markers in the first and
second trimester) and Cross Trimester testing strategies
(where ratios of serum marker levels measured in the first
and second trimester are added as screening parameters)
(Wald et al. 2006; Wright and Bradbury 2005). In order to
achieve the new standards, cut-offs for offering invasive
testing are changed nationally from 1 in 250 to 1 in 150 for
first trimester screening and to 1 in 200 for second trimester
screening.
Audit and monitoring for quality assurance are pivotal
parts of the UK’s national screening program in order
to continually improve the quality of the screening. The

national screening committee recommends that all screen-
ing strategies are subject to external quality assessment.
This is provided free of charge through a service funded by
the Program Centre, the Down Syndrome Screening
Quality Assurance Support Service (DQASS).
Testing Practices in the United States of America (USA)
No national screening program exists in the USA. Until
recently, whether women below 35 years were offered
screening, mostly consisting of second trimester screening,
depended on their hospital and what state they lived in
(Egan et al. 2002). Women of 35 years and above were
considered high-risk and referred for diagnostic testing
without prior screening. In 2007, the American College of
Obstetricians and Gynecologists (ACOG) published guide-
lines recommending screening for all women regardless of
age (ACOG Practice Bulletin No. 77, 2007a). This was
based in part on results of the FASTER (First and Second
Trimester Evaluation of Risk) trial, a US study similar to
SURUSS that compared different screening tests (Malone
et al. 2005). The prospective FASTER study included over
38,000 pregnant women in 15 centres in the United States.
Like SURUSS, it concluded that a combination of first and
second trimester screening, such as by (serum) integrated or
stepwise sequential testing is the best screening approach,
followed by combined testing. Further analysis of the data
suggested that contingent screening is the most cost-
effective test (Ball et al. 2007).
The database produced by this large trial allowed further
research: In a separate publication, the FASTER consortium
published that, in the USA, fetal loss rates after mid-
trimester amniocentesis seemed considerably lower than
previously assumed (Eddleman et al. 2006). The study
found a miscarriage rate of 0.06% (1 in 1600) after invasive
testing, with no significant increase in the group of women
who had amniocentesis versus the control group.
The American College of Obstetricians and Gynecolo-
gists guidelines suggest that women should not be told they
are ‘high risk’ or ‘low risk’ after screening, but be given
their individual risk assessment so they can decide for
themselves if their results justify invasive testing. In
contrast to guidelines in the United Kingdom, the American
College of Obstetricians and Gynecologists and the
American College of Medical Genetics state that all women
should have the option of diagnostic testing (ACOG
Practice Bulletin No. 88, 2007b; Driscoll et al. 2008).
Also in contrast to the United Kingdom, both American
College of Obstetricians and Gynecologists and American
College of Medical Genetics guidelines recommend that
women who had first trimester screening should still have
the option of alpha-fetoprotein (AFP) testing for neural tube
defect screening in the second trimester. The UK’s National
Tapon
Screening Committee states that AFP should not be offered
after first trimester screening because of its low specificity
and because the second trimester anomaly ultrasound scan
provides diagnostic testing for Neural tube defects
(Programme statement on screening for trisomy 18 and 13
and neural tube defects 2007, NICE guideline 2008).
Insurance Coverage
Screening for Down Syndrome in the UK is generally
covered by the National Health Service (NHS). National
guidelines set by the National Screening Committee ensure
a certain standard of tests (see model of best practice
above). Occasionally, couples choose private screening
which might give an earlier result due to earlier testing or
faster turn-around times or which might be more accurate
due to more parameters being measured than in tests
offered locally on the NHS. They generally pay out of
pocket for these tests. Private clinics offer a range of
screening and diagnostic testing. Once a woman is
identified as high risk by NHS or private screening, she
has the option of diagnostic testing on the National Health
Service at her local hospital.
Free government funded healthcare in the US is
currently generally only available to those on low income
(through Medicaid) or those over age 65 (via Medicare).
Most people purchase health insurance either by buying
into a group insurance plan, provided through their
employer, or by buying individual health insurance. There
is a wide variety of healthcare plans and they differ widely
in cost and coverage. Most American insurance companies
pay for some type of Down Syndrome testing, but what
testing is covered depends on the insurance. For example,
some only pay for prenatal testing in women over age 35.
Some insurance companies may require a referral from a
primary care provider or health plan. Some plans only pay
for diagnostic testing once screening gives a high risk
result, while others might cover it without the need for prior
screening. Depending on the insurance, a co-pay or
deductible may apply.
Counseling
Pretest counseling should give detailed information about
Down Syndrome and explain the voluntary nature of all
testing, the difference between screening and diagnostic
tests, the testing pathways for screen-positive and screen-
negative results and the decisions necessary at each step,
the sensitivity (detection rate) and false-positive rates of the
available screening test and the benefits and risks associated
with invasive diagnostic testing, as well as the possibility
that other chromosomal abnormalities might be detected
with CVS or amniocentesis (NICE guidance 2008; Kobelka
Prenatal Testing for Down Syndrome in the UK and USA
et al. 2009). Options with regards to continuing or ending
an affected pregnancy should also be presented. Written
information can aid in giving this information, but a
discussion with the primary care provider, obstetrician,
midwife or similar health professional should follow to
answer any questions the patient might have.
In the UK, women are generally counseled about
prenatal testing options by their General Practitioner (GP)
or midwife. Most National Healthcare Service Trusts
employ specialty midwives or screening coordinators to
counsel women who have a high risk screening result and
this is covered by the NHS. Genetic counselors generally
only become involved once a diagnosis of a chromosomal
abnormality has been made: A referral will then be made by
the attending obstetrician or pediatrician to the regional
genetic centre. A genetic counselor then meets with the
couple to discuss the options (caring for the baby,
termination in case of prenatal diagnosis, adoption) and
provide support. The genetic counselor also explains the
inheritance of Down Syndrome, recurrence risks and future
testing and supports the woman through her next pregnancy
as well as arranging any testing required.
In the United States, most of the prenatal counseling for
high risk patients is undertaken by genetic counselors.
Women of advanced maternal age are generally referred for
genetic counseling to discuss testing options and this will
be covered by most insurance policies. Some obstetricians
counsel their own patients and order screening themselves,
referring to genetic counseling in the case of a high risk
result. The majority of genetic counselors in the US work in
prenatal settings (National Society of Genetic Counselors
Professional Status Survey 2006). In addition, like in the
UK, genetic counselors might be involved once a positive
diagnosis of Down Syndrome has been made, supporting
the patient through the necessary steps of decision-making
and adjustment.
Legal Considerations for Termination of Pregnancy (TOP)
A European study suggests that almost ninety percent of
couples who are given a prenatal diagnosis of Down
Syndrome decide to end the pregnancy (Boyd et al.
2008). Similar statistics were reported in previous interna-
tional studies (Mansfield et al. 1999). However, couples
who feel they would continue a pregnancy with Down
Syndrome often decline prenatal testing, especially invasive
diagnostic tests, as they feel there is no reason to jeopardize
the pregnancy (van den Berg et al. 2005a; Kobelka et al.
2009).
The legal situation concerning termination of pregnancy
for fetal abnormality differs between countries (Boyd et al.
2008). In England and Wales, termination is regulated by
the Abortion Act (1967). Section 1(1)(d) of the Abortion
Act permits termination of pregnancy where two medical
practitioners acting in good faith agree that:“...there is a
substantial risk that if the child were born it would suffer
from such physical or mental abnormalities as to be
seriously handicapped” (Clause E). The Abortion Act does
not define “serious handicap” but most physicians would
consider Down Syndrome as such, though considerable
variability exists between the most severe cases and milder
forms of the disorder. Prenatal diagnosis of Down Syn-
drome does not enable a prediction of the severity.
For conditions considered less serious, termination can
be carried out under Clause C of the Abortion Act (1(a)) if
the pregnancy is less than 24 weeks and “...the continuance
of the pregnancy would involve risk, greater than if the
pregnancy were terminated, of injury to the physical or
mental health of the pregnant woman or any existing
children of her family” (Human Fertilisation and Embryol-
ogy Act 1990). The Royal College of Obstetricians and
Gynaecologists (RCOG) advises doctors to offer termina-
tion for abnormalities where abortion falls within the
grounds of the Abortion Act (Royal College of Obstetri-
cians and Gynaecologists 1996).
Abortion for serious abnormalities in the UK is therefore
legal at any stage of pregnancy. When second trimester
screening was the main screening modality before the
introduction of newer first trimester screening tests,
prenatal diagnosis of fetal abnormalities usually happened
in mid-pregnancy. This is still the case where second
trimester ultrasound findings prompt diagnosis of chromo-
somal abnormalities. The majority of terminations for fetal
abnormalities have therefore traditionally been carried out
in the second trimester, sometimes after the fetus has
reached viability (Government Statistical Service 2005). In
the United Kingdom, abortions after 22 weeks for fetal
abnormalities are generally carried out in tertiary referral
centers by feticide with intracardiac potassium chloride
injection followed by induction of labor (Royal College of
Obstetricians and Gynaecologists 2001). These procedures
are covered by the National Health Service.
In the United States, abortion is theoretically legal since
the landmark ruling of Roe vs. Wade in 1973 by the US
Supreme Court (Roe vs. Wade 1973; Alan Guttmacher
Institute 1997). The right for termination of pregnancy was
considered part of a constitutional right to privacy.
However, the Supreme Court gave individual states the
right to restrict abortion after viability (around 22–25 weeks
of gestation). Most states have restrictions on second
trimester abortions and outlaw it in the third trimester,
although some make exceptions where continuing the
pregnancy might pose a risk to the woman’s life or health
(Alan Guttmacher Institute 2008a). The definition of
“health” varies by state and might include physical or
mental health.

Fetal abnormality is not specifically addressed by the
Court’s ruling and is assumed to be included in the
provisions for the physical and mental health of the pregnant
woman. The American Medical Association (AMA) recom-
mends that serious fetal anomalies incompatible with life
should be the only reason to perform abortions in the third
trimester, arguing that abortion for the health of the mother is
rarely necessary in the third trimester when delivery of the
baby is an alternative (American Medical Association policy
H-5.982 2008a).
Reality shows that, in general, in the USA access to
abortion is very restricted due to a shortage of trained
physicians, few hospitals offering abortion and limited
insurance coverage. Many states prohibit the use of state
funds (for those on Medicaid) and there has been a ban on
using federal funds for abortion unless the procedure is
necessary to save the woman’s life or the pregnancy is due
to rape or incest (Alan Guttmacher Insitute 2008b).
In the USA, late-term abortions were often carried out
through ‘intact dilatation and extraction’, a procedure called
‘partial birth abortion’ by the anti-abortion community
(Gans Epner et al. 1998). A ban on ‘partial birth abortion’
in 2003 by President George W Bush and upheld in 2007
by the US Supreme Court leaves few safe alternatives for
third trimester abortion according to the American College
of Obstetrics and Gynecology (ACOG 2007c). Some
medical professionals also fear that the Unborn Victims of
Violence act could lead to a ban on abortion in the US,
although the bill exempts abortion with consent of the
mother. This act was passed by Congress in 2004 and
considers a “child in utero” a legal victim of crime,
allowing prosecution of anybody killing such an unborn
child (Unborn Victims of Violence act 2004).
In practical terms, access to abortion for fetal anomalies
after 22–24 weeks in the US is extremely restricted. Thus,
American couples often have to make a decision within a
few days after a midtrimester diagnosis of anomalies,
leaving no options if the diagnosis is made after 24 weeks.
Future considerations: Prenatal Testing Through
Non-Invasive Methods
While screening tests for Down Syndrome are becoming
more accurate thanks to new serum or ultrasound markers
and different analysis modalities (Nicolaides et al. 2007;
Wald et al. 2006), they will likely never reach diagnostic
value. However, recent advances in non-invasive diagnostic
testing suggest that testing for Down Syndrome might look
very different 10 years from now (Wright and Burton
2009). Many groups are investigating the possibility of
accessing fetal DNA from maternal blood through simple
phlebotomy. This would obviously be hugely attractive as it
would forego the need for invasive testing with the
Tapon
associated risk of miscarriage, and would potentially reduce
the costs associated with invasive testing. Another advan-
tage is the possibility raised by some early studies that non-
invasive testing could be carried out much earlier in
gestation than traditional prenatal testing, giving parents
more time to prepare for a baby with Down Syndrome or
allowing earlier termination (Illanes et al. 2007).
While initial studies examining fetal cells in maternal
blood were not very successful, more recent research into
free fetal DNA shows promise (Bianchi 1999; Lo et al.
1997; Chitty et al. 2008). Determining fetal sex from a
maternal blood sample is already used, for example to
detect X-linked conditions affecting male fetuses (Finning
and Chitty 2008). If the baby is determined to be a girl, no
invasive diagnostic testing is needed. This testing method-
ology already avoids 40–50% of invasive tests in carriers of
X-linked conditions. Many scientists in the field of non-
invasive prenatal diagnosis believe that similar non-
invasive testing could be available for Down Syndrome
within the next 5–10 years (Lo et al. 2007; Fan et al. 2008).
However, there are important ethical and social issues to
consider, should non-invasive testing become wide-spread.
Ethical concerns about easy to access prenatal diagnosis for
a wide variety of conditions include those voiced by
disability rights advocacy groups and the ‘slippery slope
argument’: if it is justified and routine to have non-invasive
testing and subsequent termination for serious conditions,
would this eventually lead to a relaxation of ethical
standards, such that early pregnancy termination for minor
conditions or for example if the baby is not of the desired
gender might become acceptable?
Newson (2008) argues that the simplicity of non-invasive
prenatal testing would require careful considerations about
patient consent. Women would need access to unbiased
information and time to think about the implications of such
testing before consenting. A study examining health practi-
tioners’ views highlights potential differences in the neces-
sary quality and quantity of pre-test counseling when
comparing invasive and non-invasive tests (van den Heuvel
et al. 2009). Informed choice might be difficult to achieve
when applying a simple, virtually risk-free, test on a
population level (Schmitz at al 2009). This could lead to
couples receiving information they would retrospectively
have preferred not to have or to feeling pressured to be tested.
Pretest counseling should therefore be a vital part of
introducing such testing to guarantee autonomous decision
making and beneficence of testing. Couples would need to
understand the condition being tested for, the voluntary
nature of the test, the sensitivity of the test, and their
options once a positive result has been identified: as the
condition is not curable, the choice is between continuing
or terminating the pregnancy. There should also be enough
time between counseling and testing, so couples can
Prenatal Testing for Down Syndrome in the UK and USA
consider the issues at stake before deciding on testing. For
many couples this might be the first time they consider
issues surrounding living with a child with a disability, and
it is likely that the need for information or support in
deciding about testing will vary between couples.
Newson (2008) also raises the question of who should
regulate such testing. While current prenatal diagnosis is
tightly controlled by clinical services, given the risky and
specialized methods required, a simple blood test could be
more difficult to regulate. Guidelines would be needed,
such as those by the American College of Obstetricians and
Gynaecologists on sex selection which opposes termina-
tions following gender determination for personal reasons
(ACOG 2007d). Private companies might see an attractive
market in offering diagnosis of fetal abnormalities from a
simple blood test. Already in the USA, there is a growing
market of direct-to-consumer genetic testing companies,
which allow individuals to send in a saliva or finger prick
sample and report a result directly to the individual. No
health professional needs to be involved in such testing,
raising concerns about whether individuals have the ability
to interpret results and how they will deal and cope with
potentially life-affecting genetic information. A recent
policy statement by the American Medical Association on
direct to consumer testing recommended that genetic testing
be carried out under the supervision of a healthcare
professional to ensure proper counseling of patients
(American Medical Association 2008b).
Organizations such as SAFE (Special Non-Invasive
Advances in Fetal and Neonatal Evaluation Network), an
international project funded by the European commission,
support research not only of the scientific aspects of non-
invasive prenatal testing but also into the ethical questions
raised (Chitty et al. 2008).
Also, should direct to consumer testing become
available for prenatal tests in the USA, women might
request more choice about their pregnancies: termination
of pregnancy for fetal abnormality would have to be more
readily available, particularly for women without health
insurance.
Summary of Testing Practices
In Summary, although there are many similarities between
testing modalities in the United Kingdom and the United
States of America, with for example similar tests used for
screening and diagnosis, there are important differences
regarding national guidelines, availability of diagnostic
tests and the legal situation for termination of pregnancy.
Table 2 shows a comparison of the health systems and
testing practices. The following case will illustrate some of
these differences and highlight their impact on genetic
counseling practice.
Case Presentation
Marianne, a 37 year old American currently living in
England, was pregnant for the second time. Her first
pregnancy had ended in a spontaneous miscarriage at
12 weeks. As she was living and working in London and
registered with a local General Practitioner, she qualified
for having her antenatal care on the National Health Service
(NHS). The General Practitioner referred her to her local
London hospital. Marianne was aware of her age-related
risk for Down Syndrome (approximately 1 in 200) and felt
quite concerned about the possibility of having a baby with
Down Syndrome. The Down Syndrome screening test
offered to her through the National Health Service was
combined testing (Nuchal Translucency (NT) scan plus
hCG and PAPP-A testing in the first trimester). This had
recently been introduced regionally for women over 35.
After reading the national leaflet about Down Syndrome
testing and some leaflets provided by the hospital that had
been sent to them, Marianne and her husband decided
against the NHS test. They instead enrolled in the more
accurate Integrated test (NT scan and PAPP-A, plus hCG,
AFP and estriol in the second trimester) offered as a private
service at her hospital. Marianne’s Integrated test came
back with a low risk of 1 in 1300 and she was informed of
this by letter, which included a statement that it was
unlikely that her baby would have Down Syndrome.
At Marianne’s detailed anomaly scan at 21 weeks, the fetus
was identified as having short femurs, a ‘marker’ for Down
Syndrome. A marker for Down Syndrome is a generally
benign ultrasound finding, the presence of which can,
however, increase the chance of a chromosomal abnormality
(Smith-Bindman et al. 2001). Marianne was referred to the
local fetal medicine unit, where she was re-scanned: the baby
looked normal expect for this one marker. Marianne was
seen by a fetal medicine specialist and informed that this
finding slightly increased her chance for Down Syndrome,
but because of her low integrated test result she was still in
the low risk group. Nevertheless, according to the depart-
ment’s policy the fetal medicine specialist offered the couple
amniocentesis. Weighing up the low chance of Down
Syndrome versus the risk of miscarriage with amniocentesis
the couple decided against invasive testing.
The baby was born at term by caesarean section due to
fetal distress. After birth, the midwife noticed some unusual
features in the baby and the attending pediatrician con-
firmed a suspicion of Down Syndrome. A blood sample
was taken from the baby and sent to the regional
cytogenetics laboratory. A rapid diagnosis of Down
Syndrome was confirmed by QF-PCR (quantitative fluo-
rescent polymerase chain reaction), a test examining the
quantity of molecular markers on chromosome 21 (Von
Eggeling et al. 1993). Cell culturing was carried out and a
 Tapon

full chromosome count (karyotype) of all chromosomes

serious” fetal abnormalities,

Restrictions in second/third
trimester by state; practical
showed standard trisomy 21. The pediatrician organized a

Legal at any gestation for

by referral to local fetal

Pre-test: obstetricians, Legal in first trimester,

referral to the hospital’s genetic counselor to discuss the
Termination for fetal

genetics of Down Syndrome.

When the genetic counselor met with the couple they

medicine unit

restrictions
seemed somewhat hostile. Discussing their options, they
abnormality

declined giving the baby for adoption stating they now felt
committed to their baby. The genetic counselor asked if
they had any questions about the screening process or why
midwives, screening
general practitioners

it had not been picked up that the baby had Down

Counseling provision

genetic counselors

genetic counselors
Pre-test: midwives,

Post-test: specialty

(obstetricians) Syndrome. The couple immediately expressed frustration

co-ordinators

with the screening test, stating that they would have

terminated the pregnancy had they known the baby had
Post-test:

Down Syndrome. A long discussion ensued about detection

rates, screening methods and policies for offering amnio-
Table 2 Comparison of Health Systems and Testing Practices for Down Syndrome in the United Kingdom and United States of America

centesis. The couple felt that—although amniocentesis had

been mentioned—it had not been presented as a justified
Regional variation, 2009 Available after high risk

Choice of first or second Offered to all women,

choice considering their ‘low risk’. They seemed particu-

screen result (2009
cut-off: 1 in 250)

trimester or combination may depend on

larly frustrated about the fact that diagnostic testing would

Diagnostic tests

have been offered to them directly in the United States

insurance

because of Marianne’s age, without prior screening—which

in this case had given them a false sense of security. The
genetic counselor tried to explain the rationale for
performing population-wide screening rather than using
trimester screening tests,
detection rate of >75%
with false positive rate
standards recommend

age alone: improved detection rates and lower screen

of first and second

positive rates, with fewer miscarriages after invasive

may depend on

testing. However, the genetic counselor had trained and

Screening tests

worked in the US herself and she was familiar with the

insurance
of <3%

practice of offering women over age 35 diagnostic testing

directly. She sensed that this couple might have felt they
could easily have avoided the birth of a disabled child, had
their pregnancy care been in the US. She revealed her
free of charge via NHS

variations according to

knowledge of prenatal testing practices in the US and felt

that this made the couple open up and develop some trust in
Local tests available

Tests dependent on
Insurance coverage

her. There was a sense that the couple did not need to
insurance plan

‘explain themselves’ but that the genetic counselor under-

insurance,

stood the testing practices back home, and consequently

understood the couple’s frustration and anger about the UK
system.
The couple was concerned about their risk of recurrence.
on low income or over age

Having had a miscarriage previously and having read on

healthcare only for those
based healthcare, Public
Mostly private insurance

the internet that pregnancies with Down Syndrome have a

system: the “NHS”

higher frequency of miscarriage, they requested their

Healthcare System

(National Health
Public healthcare

chromosomes be tested to check for chromosome trans-

locations that would increase their chance of another
Service)

pregnancy with a chromosomal abnormality. The genetic

counselor informed them that parental karyotyping was not
65

indicated in their case as the baby had standard trisomy 21,

which is not inherited. The previous miscarriage was
United States
of America

unlikely to be related to the chromosome findings in this

Kingdom

baby. Indeed, parental karyotyping would therefore not be

(USA)
(UK)
United

funded by the National Health Service. However, knowing

about the different health care system in the US, the genetic
Prenatal Testing for Down Syndrome in the UK and USA
counselor offered that chromosome testing could be ordered
privately, if the couple felt a normal result would reassure
them. Private testing could be arranged either through the
regional cytogenetics centre or through a private laboratory.
Feeling validated in their concern but now understanding
the scientific basis of why parental chromosome testing was
not offered, the couple declined further testing.
The genetic counselor discussed testing in any future
pregnancy. The couple was glad to learn that CVS or
amniocentesis would be offered to them even in the UK
now in any future pregnancy as having a previous baby
with Down Syndrome slightly increased their chance (to
approximately 1%) of having another pregnancy with this
condition (Warburton et al. 2004; Morris et al. 2005).
When reflecting about this case, the genetic counselor
sensed that her experience of prenatal testing practices in
the US had helped her connect with this couple who felt let
down by the screening process in the UK. Being used to
different screening practices, which in this case would have
avoided the birth of a child with Down Syndrome, the
couple had not understood the rationale for testing practices
in the UK until after the birth of their child. While at the
same time validating their doubts and frustrations, the
genetic counselor was able to use her experience in the US
to sensitively explain UK policies and compare them to
practices in the USA. This allowed her to develop a better
relationship with her American clients. The open discussion
facilitated the first steps towards the couple accepting their
situation.
Discussion
Internationally, the introduction of antenatal screening has
led to a reduction in live-births of Down Syndrome
(Khoshnood et al. 2004; Cheffins et al. 2000) or to at least
counter the effect of increasing maternal age with associ-
ated rising prevalence of Down Syndrome pregnancies
(Dolk et al. 2005). Similar findings were reported from the
UK (Morris 2009) and US (Egan et al. 2004).
Although the testing methodologies per se are largely the
same in many countries, the implementation of the testing
methods by the different healthcare systems leads to
important differences in patient experience, as exemplified
in the presented case, with implications for genetic
counseling practice.
Testing Practice
Screening Program
In the United States, no national program exists and testing
seems more determined by individual preference and health
insurance. This leads to a wide variety in the type of testing
offered. Patients will get the choice between first trimester
or second trimester screening or diagnostic testing. The
recent American College of Obstetricians and Gynecolo-
gists’ guidelines appear to have produced a gradual change
in practice with the majority of obstetricians nowadays
offering first trimester screening for Down Syndrome
(Driscoll et al. 2009). However, while some insurance
plans cover all tests, others will only pay for certain testing.
Dependent on their health insurance, some women in the
US might therefore forego testing for Down Syndrome
altogether or be denied their test of choice (such as, for
example, amniocentesis for a woman under 35) if this is not
covered by their insurance.
In contrast, in the UK, a national program aims to
guarantee access to a uniform screening program with an
agreed level of quality for all pregnant women free of
charge on the National Health Service. The national
screening program aims to be fair and cost-effective. While
there is still regional variation in Britain in regards to what
type of screening is offered, the national program ensures a
certain standard is met. A comparison with other countries
with a public healthcare system, such as Canada for
example, would be interesting, to look for similarities with
the English system.
Screening Tests
When looking at the different screening tests, could a
particular screening modality be judged ‘best’? Obviously
there are many aspects to consider when trying to compare
screening tests. These include gestation at time of result,
detection and false positive rates, cost effectiveness, ease of
administration and patient acceptance. First trimester
screening also relies on the availability of early diagnostic
testing (CVS) for screen-positive results. The UK program
favors combined first trimester testing over the more
accurate Integrated test (NICE guideline 2008) partly due
to its easy one-step administration and fear over non-
compliance for the second blood test that is required with
Integrated testing. In addition, Integrated testing has been
judged ethically problematic, as first trimester results are
not disclosed until completion of the second step (Sharma
et al. 2007). However, one study found that many women
seem to prefer the most effective and safe screening test
over earlier results (Bishop et al. 2004). A recent audit by
two London hospitals showed that Integrated testing works
well on a population level (Wald et al. 2009). Contingent
(first and second trimester) screening has been suggested to
be the most cost-effective screening test (Ball et al. 2007;
Gekas et al. 2009). This test discloses first trimester results
when they are very high or very low risk, with only those
with an intermediate risk referred for second trimester

screening that is then combined with the first trimester
result. However, accuracy, practicality and patient accep-
tance of this screening pathway on a population level need
to be assessed.
Second Trimester Ultrasound
Some controversy still exists over the role of second
trimester ultrasound in screening for Down Syndrome.
The UK gives clear guidelines regarding the use of ‘soft’
ultrasound markers (such as echogenic bowel, short long
bones, intracardiac echogenic focus, and dilated renal
pelvis) for Down Syndrome risk assessment (NICE
guidance 2008): detection on routine anomaly scan of two
or more soft markers for Down Syndrome should prompt
referral to a fetal medicine center, who can consider the
offer of diagnostic testing based on the ultrasound finding,
the woman’s history and her prior risk. Similarly, the
American College of Obstetricians and Gynecologists
guidelines (2007b) recommend that, because of the lack
of standardized measurements and the current variability in
diagnostic strength of ultrasound, risk adjustment based on
soft ultrasound findings be restricted to expert centers.
Although second trimester ultrasound might increase the
detection rate of prenatal screening for Down Syndrome, it
has also been shown to increase the false-positive rate (Krantz
et al. 2007; Benacerraf 2005). Overall, the accuracy of
second trimester ultrasound scanning (the ‘genetic sono-
gram’) for the detection of Down Syndrome is still unclear
and caution is needed when modifying risk after ultrasound
(Smith-Bindman et al. 2007). In addition, care needs to be
taken for psychological reasons when counseling patients
about ultrasound findings: it has been suggested that
ultrasound findings lead to higher patient anxiety than
maternal serum screening or age-based risk assessment
(Hoskovec et al. 2008; Weinans et al. 2004). Whether
patients are able to make an informed decision about
invasive testing after ultrasound findings therefore needs to
be considered (see below for issues on informed consent).
Offer of Diagnostic Test
Much emphasis has been placed on lowering the false-
positive rate of screening in order to reduce the number of
invasive tests with the associated risk of fetal loss. More
recent studies suggest a smaller risk of miscarriage
associated with amniocentesis than the 1% generally
quoted, even as low as 0.06% (Eddleman et al. 2006;
Seeds 2004; Nassar et al. 2004; Mujezinovic and Alfirevic
2007). Considering these more recent figures, one could
argue that diagnostic testing could be offered more widely
and be each woman’s individual choice, as is practice in the
USA. However, the UK’s National Screening Committee
Tapon
has not included this new evidence into their updated
standards. The UK’s national program emphasizes the
fairness of the screening program where, by adhering to
national guidelines, every woman should be treated equally.
For this reason, the UK system uses fixed cut-offs which
also enable audit to follow the detection and false-positive
rates of the national screening program. Evaluation of the
program happens on a population level. In the US, more
emphasis is placed on the individual choice of the woman,
who can decide if a particular screen result warrants
invasive testing based on her personal values.
Cost-effectiveness will be a contributing factor in the
offer of diagnostic testing. The UK’s program is funded by
the National Health Service and might therefore favor
cheaper screening tests over the more expensive invasive
tests, accepting that due to the false-negative rate of
screening some pregnancies with Down Syndrome will be
missed. However, one recent cost utility analysis suggests
that invasive testing is cost-effective when CVS or
amniocentesis are offered to all women, even ‘low-risk’
women, if one factors in women’s preferences and possible
outcomes expressed as quality-adjusted life years (Harris et
al. 2004). Further research into this topic could potentially
lead to a change in practice.
Another reason to lower screen-positive rates or avoid
labeling results as ‘high risk’ is the psychological response
of women to their screen result. Receiving a high risk result
leads to considerable anxiety, that may even last until after
a negative result from diagnostic testing, and to temporary
loss of bonding with the pregnancy (Green et al. 2004;
Georgsson et al. 2006).
Patient Autonomy and Informed Consent
The UK system only offers a diagnostic test to those who have
been deemed ‘high risk’ through prior screening and could
therefore be criticized as denying women the autonomy of
deciding for themselves if they wish to pursue diagnostic
testing (Alfirevic 2009). Who decides what is more
acceptable: missing affected cases or losing healthy fetuses
due to invasive testing? Should this decision be left to
couples or to policy-makers? Many factors could determine
a woman’s risk perception, such as already having healthy or
disabled children, fertility issues, her own age at the
pregnancy and the perceived severity of the condition.
Whether to have amniocentesis or not depends on these
personal factors and values, and the decision varies accord-
ing to social and familial context (Kupperman et al. 2000;
Learman et al. 2003). Likewise, the uptake of amniocentesis
shows substantial regional variation (Khoshnood et al. 2004)
and seems lower in certain ethnic groups (Ford et al. 1998).
It also depends on the screening result (Mueller et al. 2005).
A theoretical study by Zikmund-Fisher et al. (2007) showed
Prenatal Testing for Down Syndrome in the UK and USA
that women are more likely to decide for amniocentesis if
their risk was labeled ‘high risk’ than when they were given
the result without label. Labeling a result as ‘low’ or ‘high’
risk does therefore appear to influence women’s decision on
invasive testing.
Considering the personal factors that influence the decision
concerning amniocentesis, one could argue that all women
should have the option of diagnostic testing. Leaving women
to decide what level of statistical risk is acceptable to them
without categorizing them as ‘high’ or ‘low’ risk might give
them more autonomy, but it raises the question of whether the
majority of women are capable of taking such a decision (van
den Berg et al. 2005b). Many women do not make fully
informed choices about prenatal screening based on a
detailed understanding and evaluation of all aspects involved,
but instead might rely on recommendations by significant
others or health professionals (Green et al. 2004; Kobelka et
al. 2009). Some women might prefer to be told if their result
is low risk, i.e. overall reassuring, or high risk and warranting
further testing. In addition, do societal pressures occasionally
‘coerce’ women into having diagnostic testing? Does the UK
system, for example, pressure women to take up invasive
testing once they are labeled ‘high risk’, as this would be the
expected pathway in the screening process? On the other
hand, does fear of litigation in the USA prompt more
American physicians to offer amniocentesis than in the UK,
where lawsuits are less common?
Counseling Provision
Clearly, with such a confusing array of testing modalities and
decisions to be made along the testing pathway, appropriate
counseling is paramount. Are the midwives and obstetricians
who often provide this counseling sufficiently qualified and
trained to do so? Earlier studies suggested that many
obstetricians in the US did not feel adequately trained to
counsel patients about prenatal testing issues (Cleary-Goldman
et al. 2006) but this has apparently improved since the
introduction of the American College of Obstetricians and
Gynecologists’ guidelines (Driscoll et al. 2009).
In England, most pre-test counseling is provided by the
General Practitioner or a midwife during the first antenatal
visit. Considering the pre-test discussion about testing for
Down Syndrome is part of a general discussion about
pregnancy and screening for other conditions such as
hemoglobinopathies and infections (as described in the
national antenatal screening program, NICE guidance
2008) one can imagine that there is often not much time
for in-depth discussion or consideration of an individual
topic such as Down Syndrome. Some couples might
therefore start the screening process with insufficient
knowledge or awareness of the sensitivity, specificity or
implications of such testing (Green et al. 2004; van den
Berg et al. 2005b). Post-test counseling for high risk results
is provided by specialist midwives or screening coordina-
tors, but at this point some women are not even aware they
had a test for Down Syndrome or what a screening test is,
so considerable explanation might be needed in some cases.
Genetic counselors are in a unique position to provide
prenatal testing counseling due to their specialist training
and communication skills (Resta et al. 2006). Genetic
counselors working in prenatal settings in North-America
play an important part in informing pregnant women of
their choices regarding prenatal testing and aid in decision
making. Once a couple receives a ‘high risk’ result and
needs to consider the risks associated with invasive testing
and the implication of a positive result, a common question
is: “What would you recommend?” Detailed client-centered
discussion about the benefits and risks of obtaining
information by diagnostic testing versus the uncertainty of
not knowing can in those cases help couples come to a
decision that is right for them. Genetic counselors are
especially qualified to provide this type of non-directive
counseling.
But while ideally all couples should receive counseling
before embarking on screening, due to time constraints and
job shortages, genetic counselors would not be able to see all
pregnant women for the same timely and intensive counseling
that is currently mostly provided to ‘high-risk’ women. A
similar in-depth pre-test counseling discussion would prob-
ably facilitate the screening pathway for many couples. One
possibility is to provide group sessions, written information
or computer-based materials that are accessible to all
pregnant couples and give detailed information, thus allow-
ing reflection of the issues before testing.
Web resources have been developed that present informa-
tion to patients and health care providers (for some UK
resources see for example AnSWeR (http://www.antenataltest
ing.info/conditions.html), DIPEx (http://www.healthtalkon
line.org/) or Telling stories (http://www.geneticseducation.
nhs.uk/tellingstories/)). However, giving truly balanced infor-
mation about the condition(s) being tested for is difficult to
achieve (Ahmed et al. 2007).
Termination of Pregnancy
One aim of screening programs for Down Syndrome is to
give women and their partners the choice of ending the
pregnancy. This choice will depend on the legal situation
regarding termination of pregnancy which varies between
countries. Looking at the frequency of termination for
Down Syndrome, recent research from Europe and Aus-
tralia suggests that the majority of prenatally detected cases
will be terminated in these countries (Boyd et al. 2008;
Cheffins et al. 2000). No current, comprehensive data exist
for the US and there will likely be regional variation.

Khoshnood et al. (2003), for example, found socioeconom-
ic differences in the prevalence of Down Syndrome births
with ethnic minorities in the US being less likely to accept
amniocentesis and having higher rates of live Down
Syndrome births. Their research also found that US states
allowing public financing of abortion had lower rates of
live-births of Down Syndrome.
In the UK, the possibility of accessing abortion for
serious fetal abnormalities virtually without restrictions
allows more time for consulting with family members,
religious leaders or health professionals. It has been
suggested that not setting a gestational limit for pregnancy
termination for fetal abnormality, as in the UK, might
actually in some cases reduce the number of terminations
carried out overall, as it allows more time for further
investigations and fetal evaluation to clarify the prognosis,
thus avoiding unnecessary terminations in the second
trimester (Dommergues et al. 1999). For many couples this
complex decision presents the most difficult time of their
lives and it incorporates many personal factors, such as
family support, lifestyle, and cultural and religious values.
Although the legal framework for late abortions for Down
Syndrome exists in the UK, the ethical justification of late
termination is controversial, with some believing termina-
tion for serious abnormality is ethical at any point in
gestation (Paintin 1997) and others arguing that is should
be restricted to lethal conditions (Chervenak et al. 1999).
Late termination also has serious implications from a
counseling perspective. Having a termination for fetal
abnormality at any point in gestation can have severe
psychological consequences and many women take a long
time to adjust (Korenromp et al. 2005). Gestational age
seems to play a role for adjustment, with termination done
after 14 weeks leading to higher grief and posttraumatic
stress symptoms. Some patients might receive a diagnosis
as late as 34–36 weeks if third trimester amniocentesis was
performed after 32 weeks. Some women choose such late
diagnostic testing because there is no risk of miscarriage
with the procedure at this stage: any procedure-related
complications would lead to delivery of a viable baby with
usually no long-term health consequences from prematurity.
Termination at such late time in gestation is understandably
an extremely difficult decision and many couples might at
this point decide to continue with the pregnancy.
Extensive counseling is often needed to help couples
come to a decision about termination or continuing and to
adjust to the outcome. If involved at that stage, with their
counseling skills genetic counselors can make a crucial
difference in helping families through such a difficult time.
Support groups are vital resources after termination and
many genetic counselors assist in such groups. In the UK,
the national charity Antenatal Results and Choices (ARC,
www.arc-uk.org) provides support to couples throughout
Tapon
the prenatal testing process, including after the diagnosis of
an affected pregnancy. Their informative leaflets about
continuing or terminating an affected pregnancy are
distributed by many fetal medicine specialists to their
patients. ARC also offers a telephone helpline that many
patients find extremely helpful (personal observation). In
the USA, national support groups helping parents after the
loss of a baby include Bereaved Parents (http://www.
bereavedparentsusa.org/) or Compassionate Friends (http://
www.compassionatefriends.org/).
Overall, late terminations are fortunately extremely rare.
Fetal abnormalities (including Down Syndrome) account
for about 1% of terminations overall in the UK (Human
Genetics Commission 2004), with only about 0.05% of
terminations carried out after 25 weeks under Clause E
(Paintin 1997). In the US, the Center for Disease Control
(CDC) reports that 1% of abortions are carried out past
21 weeks (Centers for Disease Control and Prevention
2005) but statistics about fetal abnormality are not reported.
The more recent move towards first trimester screening
allows earlier diagnosis of fetal abnormalities. Future non-
invasive prenatal diagnosis could potentially already pro-
duce a diagnosis by 8–9 weeks of pregnancy. A first
trimester diagnosis of abnormality allows couples more
time for preparation or earlier decision-making regarding
continuing the pregnancy. This could reduce the number of
terminations carried out in the second or third trimester of
pregnancy. Thus even couples in countries with restrictions
on second trimester abortion would have more time for
decision-making and greater choice. A first trimester
diagnosis might also give the option of keeping a
termination private before any visible signs of pregnancy
and before having publicly acknowledged the pregnancy,
thus avoiding judgment and needing to give explanations.
On the other hand, fetuses with Down Syndrome have a
substantial risk of miscarriage between the first and second
trimester (Savva et al. 2006), and it can be argued that
earlier diagnosis might therefore lead to unnecessary
terminations of fetuses that would have miscarried anyway.
Perception of Down Syndrome
The decision about termination or continuing will depend
on the perceived severity of the condition. Down Syndrome
is a variable condition, both with regards to the severity of
learning difficulties as well as associated physical health
problems. This variability can make a decision more
difficult. Almost half of all babies with Down Syndrome
have heart defects (Freeman et al. 2008) and other health
problems are also more frequent than in the general
population (Schieve et al. 2009). However, life expectancy
has increased to about 60 years of age in recent years and
the learning potential of people with Down Syndrome has
Prenatal Testing for Down Syndrome in the UK and USA
improved over the last decades since they are more often
brought up in a loving home environment rather than
institutions with a lack of stimulation and learning
opportunities. While many adults with Down Syndrome
are not able to live independently, many are nowadays able
to live productive and fulfilled lives (Alderson 2001). The
role of professionals involved in counseling parents after a
diagnosis is to provide up-to-date, balanced information on
the condition, so that parents can make a decision that
corresponds to their beliefs, culture, lifestyle and support
system.
Case Discussion
Applying the discussed prenatal testing aspects to the
presented case demonstrates some implications on genetic
counseling practice. The couple in the case had little pre-
test counseling. They had in fact educated themselves
mostly by reading information on the internet or leaflets
provided by the hospital. An in-depth discussion with the
midwife had probably not taken place. A thorough pre-test
discussion, for example with a genetic counselor, might
have enabled the couple to compare testing practices in
their country of origin versus the country they had their
prenatal care in, creating awareness of the differences. They
would then perhaps have better understood the difference
between screening on a population level (high detection
rates with certain false-negative rates) and an individual
level (individual preference for diagnostic testing with the
risk of miscarriage). With such a discussion they might
have felt more informed and empowered about their
decision regarding prenatal testing.
Even after the identification of the ultrasound marker, no
thorough discussion had taken place. The fetal medicine
specialist offered amniocentesis in line with the depart-
ment’s protocol but at the same time re-iterated the risk for
Down Syndrome remained low. The couple mentioned later
that they had not considered amniocentesis as an option
anybody would pursue in their situation (considering the
‘low risk’). A meeting with a genetic counselor could at
that point have allowed a more detailed discussion:
a) About the couple’s interpretation of their screening test
results. Did they understand that screening tests carry a
low but significant false-negative rate? Many patients
are not aware of this fact (Dahl et al. 2006).
b) About their motivations. Why did they choose private
Integrated testing?
c) About their anxieties. What would it mean for them to
have a baby with Down Syndrome?
Such a discussion could have made them more aware of
the different risks they were facing (miscarriage versus
having a baby with Down Syndrome) and could maybe
have prepared them better for the eventuality of having a
baby with Down Syndrome.
In the US, they would have been presented with the risk
of Down Syndrome without the label ‘low risk’ and might
have decided for amniocentesis after identification of the
ultrasound marker. As things were, the couple had felt quite
safe with their low risk screening result and had not given
the possibility of having a baby with Down Syndrome a
second thought. The diagnosis of the baby after delivery
therefore came as a massive shock. The couple probably
experienced feelings of grief (see below), which seemed to
manifest specifically through anger. Their anger was
directed against the ‘system’ that had failed them: in their
home country they would have been offered amniocentesis
as a routine practice and could have been spared this
situation.
The pediatricians who had informed the couple of the
diagnosis focused on the medical aspects of Down
Syndrome. They reportedly attempted to show the positive
side of having a baby with Down Syndrome but maybe
lacked the counseling skills to address the couple’s possible
feelings and concerns: the couple might have felt let down
by the screening process, misunderstood about their feel-
ings about having a child with Down Syndrome and
frustrated about their lack of control over the situation.
The couple might also have found it particularly difficult to
accept their baby’s unwanted diagnosis, as they had
actually been offered amniocentesis but declined. There
perhaps were feelings of regret about this earlier decision
and anger with themselves. Although it was easy for them
in retrospect to blame the English system for their situation,
it is unknown whether they might have similarly decided
against amniocentesis in their home country: their prior
miscarriage and the risk of miscarriage associated with
amniocentesis might have led them to the same conclusion
in the US, i.e. to decline invasive testing.
It is unknown if the couple was offered any written
material about Down Syndrome by the pediatrician at the
time of diagnosis. Skotko (2005) found that women who
were given a diagnosis of Down Syndrome suggested that
up-to-date printed material eases the impact of receiving
such a diagnosis.
The genetic counselor met them for the first time four
weeks after the diagnosis. She had counseled other
couples in this situation and was familiar with the
emotions families experience after the diagnosis of a
child with special needs. These have been likened to the
emotions felt after any loss, and often happen in five
stages: shock, denial, anger, adaptation and reorganization
(Drotar et al. 1975). Mothers have also been described as
feeling “anxious, frightened, guilty, angry, and, in rare
cases, suicidal” (Skotko and Bedia 2005). Parents of

children with Down Syndrome who had a false-negative
prenatal screen result are more likely to blame others for
their situation and to show poorer adjustment and bonding
with their child (Hall et al. 2000). This couple seemed to
blame the English system for their situation. This was
perhaps in part due to a lack of understanding of screening
practices and in part maybe to their sense of being
misunderstood.
Genetic counselors often encounter clients from different
cultural backgrounds in their clinical practice due to high
rates of population mobility in modern multicultural
societies. Sensitivity and knowledge of cultural differences
are required to provide appropriate genetic counseling to
different ethnic communities. Multicultural training to
achieve these skills has been recommended to be part of
genetic counselors’ education (Weil 2001). Awareness of
different screening/counseling practices is potentially an
important part of this training. Counselors need to be well
informed with up-to-date information and confident in
presenting information. In this case, the genetic counselor’s
knowledge of testing practices in the US might have helped
her be seen as an expert in the field and for the couple to
develop trust in her. Understanding the thought processes of
these clients with a different cultural background aided the
genetic counselor in better connecting with them. Her
explanation of the rationale for carrying out population-
wide screening (which due to the false negative rate leads
to the births of some undiagnosed babies with Down
Syndrome) did not make it easier for the couple to accept
their situation, but it enabled them to better understand that
these circumstances had not come about through a failing in
the system. The genetic counselor was able to understand
the couple’s experience and expectation of testing for Down
Syndrome from their home country and to respond in an
informed, sensitive and caring manner. This helped her
develop a relationship with the couple.
The case also serves as a reminder that genetic counselors
should always be mindful that perception of statistical risk is
highly subjective, both across different populations and
within a given population (Caughey et al. 2008). Many
patients have difficulties comparing risks, whether presented
as rates (e.g. 2 per 1000 versus 10 per 1000), proportions
(1 in 500 versus 1 in 100) or percentage (0.2% versus 1%)
(Grimes & Snively 1999; Nagle et al. 2009). Evaluating
patients’ expectations, understanding their risk perception
and effective risk communication are vital to achieve
informed consent regarding the decision to undergo invasive
testing. While the couple had felt at the time that a
calculated ‘low’ risk of 1/1300 after screening was
acceptable balanced with the risk associated with invasive
testing (quoted as 1/100), they were clearly unhappy
with the final outcome. Earlier encounters with a genetic
counselor might have revealed that they would in fact have
Tapon
been far more comfortable with the certainty afforded by
amniocentesis.
Thus, genetic counselors’ exposure to different screening
practices might help remind them of important questions
they should tackle with any patient: what are my patients’
expectations regarding the testing protocol? Are there any
differences between their experience, possibly from their
own country, and what they will be offered locally? Do my
patients understand the difference between screening and
diagnostic testing? Are they equipped with the knowledge
to decide whether the costs/risks of invasive testing are
worth taking in their case? Should they seek as much
information about their baby prenatally as possible or
would such information be unhelpful or confusing to them?
What would they do with the information should they
decide for further testing?
Once an unexpected postnatal diagnosis of Down Syn-
drome has been made, the genetic counselor’s role includes
helping the family adjust to the new situation. With
appropriate counseling and communication skills genetic
counselors can help couples move through the stages of grief
they might be experiencing, towards eventual readjustment.
Counselors should assess and acknowledge their clients’
feelings and reassure them these are normal, where this is
appropriate. In cases like the presented, where couples move
abroad and away from their families, it is important to be
aware of the lack of family support. This couple’s family lived
in the US, and they had therefore little practical and emotional
support after the birth of their baby.
An in-depth discussion of possible counseling interven-
tions after an unexpected diagnosis is beyond the scope of
this article. Several approaches have been suggested, such
as group intervention, with or without cognitive behavioral
therapy (Hastings and Beck 2004). Systematic early family
intervention therapy has been shown to improve adaptation
and to lower stress, depression and anxiety in parents of
children with Down Syndrome (Pelchat et al. 1999). It
might help to empower the family by identifying their
strengths. For several practical suggestions and ideas see an
article by Brasington (2007), who recommends emphasiz-
ing the ‘normal’ aspects of a baby who has Down
Syndrome. It can also be helpful to make parents aware
of their expectations of the child and how these might still
be achieved ‘despite’ the disability (such as their child
being happy and feeling loved). Better parental acceptance
of a child with learning difficulties appears to reduce
maternal depression and stress (Lloyd and Hastings 2008).
Establishing a parent network with other parents of children
with Down Syndrome, who can provide emotional support
as well as information, can strengthen parental coping.
Such parent to parent programs have been successfully
introduced in the US (Singer et al. 1999). The couple here
was given the contact details of the Down Syndrome
Prenatal Testing for Down Syndrome in the UK and USA
Association, but this large society was perhaps too
impersonal for them in the beginning, as the couple did
not make contact with the association in the first few
weeks. The couple later connected with other local families
with children with Down Syndrome and this seemed to aid
in slowly accepting their situation.
Conclusions
A comparison of testing for Down Syndrome in the UK
versus USA shows that the testing methodologies per se are
largely the same. However, the implementation of the
testing methods by the different healthcare systems leads to
important differences in patient experiences, with implica-
tions for genetic counseling practice. For genetic counselors
in prenatal settings in-depth knowledge of local practices is
a prerequisite. However, awareness of the screening
practices in other countries can help genetic counselors
connect with clients from different cultural backgrounds,
thus facilitating the genetic counseling encounter. Looking
at the testing practices in detail underlines several questions
with implication for genetic counseling practice, such as
patients’ understanding of testing practices, risk perception,
adequate counseling provision and impact of testing results.
Prenatal testing for Down Syndrome is constantly
evolving and might soon see the emergence of non-
invasive diagnostic testing. This has important implications
for parents’ decision-making and informed consent. Ongo-
ing open discussion about different practices, not only
among professionals but also involving lay people, the
‘consumers’, should ensure that prenatal testing will evolve
in a way that benefits all concerned. Genetic counselors are
in a unique position to contribute to this discussion as they
understand the scientific basis of new tests while witnessing
the impact these have on patients. Knowledge of interna-
tional testing practices enables a more thorough evaluation
of local practices and can help those who are involved in
developing pathways and guidelines, whether on an
institutional, regional, or national level.
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