Research Paper

Methods of FASD Diagnosis in Utero

Annabelle P. Xiong
Health Sciences 1A

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Fetal Alcohol Spectrum Disorders (FASD) consist of a group of conditions that may
occur to a person whose mother consumed alcohol during their pregnancy. The possible
conditions that someone with FASD may experience are behavioral, mental, physical, and/or
learning disabilities that obtain the possibility of evoking permanent damage (Streissguth, A. P.,
Barr, H. M., Kogan, J., & Bookstein, F. L. (1996). The focus of my research was to find whether
or not there have been successful methods of diagnosing FASD in utero and if so, what those
methods may be. While probing google scholar I discovered three different methods of
diagnosis. With this discovery, many medical professionals will be better prepared to take care of
a fetus that they know has FASD and they would also be able to inform the parents of the fetus of
its conditions and what they should expect. It is saddening to see that this disorder has become a
global health problem considering that FASD is completely preventable and it is because of
reasons such as that that I find it important for health professionals to be knowledgeable of these
methods and others in order to provide potential mothers with full access to all the information
and help that they can possibly give them so that all together we can help ensure the health of
future children all over the world.
Alcohol is consumed practically all over the world and its effects can be life threatening
if not consumed appropriately. Many say ones brain is not fully developed until the age of 21-25
and it is because of research like that that the legal age for alcohol consumption is so high. This
information seems to be common knowledge to most adults and teens, but yet there is still a
significant amount of children affected by FASD a year (Green, J. H. (2007). Disorders
pertaining to FASD include hyperactive behavior, a small head size, vision or hearing problems,

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poor coordination, and many more (2015, April 16). These disorders are all due to the drastic
effects that alcohol has on a fetus brain development. The alcohol consumed by the mother
passes through her bloodstream which then gets passed on to the fetus through the placenta. Due
to the babys under developed liver, it is not able to metabolize the alcohol therefore the fetus is
exposed to the full harm that alcohol imposes on a person. The part that is most affected by
alcohol is the brain. Certain regions are more susceptible to others and those regions consist of
the corpus callosum, cerebellum, basal ganglia, hippocampus, hypothalamus, and the frontal lobe
(2015, April 16). It is because of alcohols effects on these regions that many people diagnosed
with FASD experience difficulty with learning new things, memorization, and poor reasoning
and judgement skills.
While reading through the abstracts of numerous research papers, I came across three that
caught my eye. One of those was a clinical trial done by Sridevi Balaraman, Jordan J. Schafer,
Alexander M. Tseng, Wladimir Wertelecki, Lyubov Yevtushok, Natalya Zymak-Zakutnya,
Christina D. Chambers, and Rajesh C. Miranda. Their trial was done in the hopes of successfully
discovering a method of FASD diagnosis of a fetus in the womb. Their subjects were pregnant
women who were enrolled in a longitudinal cohort study conducted in two regions of Western
Ukraine as part of the Collaborative Initiative on Fetal Alcohol Spectrum Disorders between the
years 2006 and 2011 (Sridevi et al., 2016). First, they would screen the women for signs of
alcohol and then they would ask the women to report whether or not they drank and if so how
much. After asking such questions, they split the women into two groups; one group consisted of
women who met their frequent or heaving drinking criteria and another group who reported
infrequent or no alcohol consumption (Sridevi et al., 2016). During the time of enrollment the

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researchers interviewed many women making sure to ask about their demographics, pregnancy,
health history, tobacco and other drug use (Sridevi et al., 2016). The researchers used a
timeline followback procedure which has been validated for the assessment of past alcohol use
in pregnant women (Fals-Stewart et al., 2000). The women whom were apart of this trial were
interviewed during their second and third trimester, and at each of those interviews their blood
was collected and centrifuged. After doing so, aspirated plasma samples were frozen and
examined. They examined plasma miRNA profiles from both groups and discovered that on
average the women who consumed a hefty amount of alcohol during their pregnancy showed a
common signature in each others plasma miRNA profile. With these results the researchers
predicted that the women whose plasma miRNA profile obtained the same signature would
deliver infants with FASD. As a result, their predictions were correct and they came to a
conclusion that plasma miRNA profiles in the pregnant mother do predict alcohol-related infant
health outcomes and help classify prenatal alcohol-exposed infants who are at risk for
intellectual disabilities (Sridevi et al., 2016). With their newly found method of diagnosis,
medical professionals all around the world will be able to confidently tell mothers whether or not
their child has been affected by their consumption of alcohol or not, and if they have, these
physicians will be able to prepare them for it before the child is even born.
A pilot study conducted by M. Kfir, L. Yevtushok, S. Onishchenko, W. Wertelecki, L.
Bakhireva, C. D. Chambers, K. L. Jones, and A. D. Hull focused on detecting FASD in a fetus in
the womb through the use of pre-natal ultrasonography. In this study the researchers discovered
that fetuses who were exposed to alcohol experienced measurements that greatly varied from
those who werent exposed to alcohol. During the study they consistently looked over

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ultrasound evaluations of fetal growth and specific fetal brain measurements (Kfir et al., 2009)
to ensure the validity of their results. To ensure that their results would be fairly accurate, they
performed a longitudinal prospective pilot study from 2004 to 2006 at two sites in Ukraine
(Kfir et al., 2009). The researchers interviewed pregnant women who they split into two groups;
one group of women were those who admitted to heavy consumption of alcohol, while another
was a group of women who had consumed little to no alcohol. Throughout the study they
performed ultrasounds on both groups, each woman receiving an ultrasound during their first,
second, and third trimester (Kfir et al., 2009). The researchers, after controlling for maternal
smoking, came to the result that the fetuses who had been exposed to alcohol in the womb
experienced shorter mean femur length, cavalcalvarial distance and frontothalamic
measurements in the second trimester and had shorter frontothalamic distance measurements
in the third trimester (Kfir et al., 2009). Although this study did not give a concrete answer as to
whether or not a fetus will be born with FASD, it did provide helpful information for future
FASD research by providing a method for detecting the amount of alcohol that has reached and
affected the fetus. Not only did the research provide this helpful information, but it was through
this study that the researchers discovered Significant differences in selected somatic and brain
measurements in alcohol exposed fetuses to comparison fetuses, suggesting that these factors
are possible markers for FASD and may be of great help for future FASD research (Kfir et al.,
2009).
A recent method of FASD diagnosis has been to extract a pregnant womans hair and
examine it for fatty acid ethyl esters (FAEE), something that has been commonly found in the
hairs of gestational drinkers (Caprara, Klein, and Koren, 2006). The researchers conducted

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interviews with maternal women who admitted to drinking during their pregnancy and also
interviewed maternal women who did not drink. After interviewing and screening the women for
the presence of alcohol, the researchers began to extract hair from the moms. With the moms
who admitted to consuming alcohol, it was found that their hairs contained FAEE, and for the
mothers who did not consume alcohol, there wasn't any FAEE present in their hairs. The research
did not simply stop at the realization that women who consumed alcohol during their pregnancy
were easily made out due to the FAEE in their hairs. After the women delivered their child, the
researchers extracted hairs from the children of both groups of women and found that the
children whose mothers were found with FAEE also had FAEE found in their hairs as well
(Caprara et al., 2006). As for women whose hairs showed no FAEE, their newborns also did not
show any signs of FAEE as well. Although this study did not discover a forward yes or no
answer to whether or not a fetus will be born with FASD or not, it is still a very important and
crucial study that will greatly affect future FASD research. With this knowledge of FAEE being a
possible biomarker for FASD, future health professionals will have a greater lead in the race to
find more information on how to better diagnose and treat FASD, helping to end the suffering of
many innocent newborns all around the world.
Alcohol has been apart of this world for a very long time, but the science behind its
effects on a womans fetus has not been. Seeing how many people are still being affected by
FASD in modern times is astonishing and shocking because the science is there, the facts are
there, but the people arent. The health professionals that people pay thousands of dollars to see
dont provide that basic information to them. Yes, there are signs that say alcohol and pregnancy
dont mix, but what those signs lack are the reasons as to why they do not mix. As a future

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health professional, I believe that the studies that I discussed are the future of FASD research and
I also believe that I will become the health professional that informs young women and pregnant
women of the harmful and drastic effects that alcohol may have on their child and provide them
with all the information and help that they could possibly get in order to ensure the wellbeing of
their baby.

References
Balaraman, S., Schafer, J. J., Tseng, A. M., Wertelecki, W., Yevtushok, L., ZymakZakutnya, N., ... & Miranda, R. C. (2016). Plasma miRNA Profiles in Pregnant Women

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Predict Infant Outcomes following Prenatal Alcohol Exposure. PloS one, 11(11),
e0165081, doi:10.1371/journal.pone.0165081

Caprara, D. L., Klein, J., & Koren, G. (2006). Diagnosis of fetal alcohol spectrum
disorder (FASD): fatty acid ethyl esters and neonatal hair analysis. ANNALI-ISTITUTO
SUPERIORE DI SANITA, 42(1), 39. Retrieved from http://iss.it/

Fals-Stewart, W., O'Farrell, T. J., Freitas, T. T., McFarlin, S. K., & Rutigliano, P. (2000). The
timeline followback reports of psychoactive substance use by drug-abusing patients:
psychometric properties. Journal of consulting and clinical psychology, 68(1), 134.

Green, J. H. (2007). Fetal Alcohol Spectrum Disorders: understanding the effects of prenatal
alcohol exposure and supporting students. Journal of School Health, 77(3), 103-108.
(2015, April 16). Fetal Alcohol Spectrum Disorders. Retrieved from
https://www.cdc.gov/ncbddd/fasd/facts.html

Kfir, M., Yevtushok, L., Onishchenko, S., Wertelecki, W., Bakhireva, L., Chambers, C.D., &
Hull, A. D. (2009). Can prenatal ultrasound detect the effects of inutero alcohol exposure? A
pilot study. Ultrasound in Obstetrics & Gynecology, 33(6), 683-689. doi: 10.1002/uog.6379

Streissguth, A. P., Barr, H. M., Kogan, J., & Bookstein, F. L. (1996). Understanding the
occurrence of secondary disabilities in clients with fetal alcohol syndrome (FAS) and fetal

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alcohol effects (FAE). Final report to the Centers for Disease Control and Prevention (CDC),
96-06.