Chapter V

Congenital Fetal Anomalies

 At the end of this session the learners will be able to:

 Define terms

 identify risk factors/causes CA

 Identify different types

 Assess new-borns to identify

 Identify different management

 Identify different type of abnormality(heart, lung,

1
 Congenital Fetal.....definition of terms
Congenital means exist since birth, whether clinical evidences
are obvious or not obvious.
Anomaly means a deviation from the normal
Malformation means faulty development of a structure
Congenital Anomalies: - malformation, disruption,
deformation and dysplasia exist at, and usually before
birth.
Congenital malformation: – gross structural defect
present at birth.
2
Congenital Fetal….Epidemiology &
precaution
 Congenital anomalies are contributing for about 4% of
neonatal mortality in Ethiopia.

 Health personnel working in NICUs are among the first to

identify newborns with congenital anomalies.
 Abnormality can be detected at antepartum, intrapartum
and postpartum periods.

 So they need to now basic features of these anomalies

and immediate treatment of associated life threatening
illnesses before referral.

 Subsequent management needs team of experts in well

3
equipped centers.
Causes of congenital anomalies

4
 Types:
 Incidence:
1. Physical structural
Major congenital anomalies:
defects: affects about 2 to 5% of all

2. Non-structural defects newborns.

Minor anomalies occur in higher

Inherited metabolic
percentage of newborn (about
defects
10%).
Functional & behavioral
 The risk of recurrence.
deficits e.g. congenital
mental retardation. Most of congenital anomalies are
single primary developmental
anomaly
5
Etiology of Congenital Anomalies
Unknown cause (60%):
 The causes of malformations are not identifiable in
the majority of cases.
Multifactorial factors (20%):
 The presence of an interaction between genetic
predisposition and non-genetic intrauterine factors.

Example: NTD, certain forms of hydrocephaly, facial

clefts, cardiac anomalies, and imperforate anus.

6
 1. Genetic basis:
Thousands of known genetic diseases that may affect
humans as all inherited disorders
Are passed from one generation to another.

2. Exogenous influences

Teratogen exposures :(Embryogenesis).

2.1 Intrinsic insults: maternal infection/non

2.2 Extrinsic insults: environment ,drug

7
 Secondary to chromosomal anomalies (6%).
Abnormality of chromosome number (numerical
abnormalities):
» Triplicate number of portion or an entire
chromosome: clinically
- Autosomal abnormalities: e.g.
Trisomies e.g. trisomy 21, 18 and 13.
Trisomy 13 and 18 are fatal.
- Sex chromosome anomalies:
Monosomies: Single number of chromosome:
Abnormality of chromosome structure: Deletions,
translocations, inversions.

8
2. Exogenous influences
Teratogen exposures : (the period of embryogenesis).

Intrinsic insults: Extrinsic insults:

– Maternal infections:
Environmental agents:
– Noninfectious systemic
Drug exposure and medications:
– Functional virilizing
lesions of the ovary and Physical injury:
adrenal glands.

9
 Categories(5) of Drug use in pregnancy
A. Controlled studies in women failed to demonstrate a risk to the fetus
in the first trimester, and the possibility of fetal harm appears remote.
B. Animal studies do not indicate a risk to the fetus, there are no
controlled human studies, or animal studies do show an adverse effect
on the fetus, but well –controlled studies in pregnant women have
failed to demonstrate a risk to the fetus.
C. Studies have shown the drug to have animal teratogenecity or
embryocidal affects, but no controlled studies are available in either
animals or women.
D. Positive evidence of human fetal risk exists, but benefits in certain
situations (e.g., serious diseases for which safer drugs are ineffective)
may make use of the drug acceptable despite its risks.
X. Studies in animals or humans have demonstrated fetal anomalies and
the risk clearly outweighs any possible benefit.
Nb: Please Referres The Name Of Each Categories Drug Name

10
11
12
I. General guidelines:
1. Control of medications during pregnancy

2. Detection and control of relevant maternal diseases.

3. Genetic counseling and Testing .

4. Prenatal diagnosis of genetic conditions and Termination

5. Discourage consanguineous marriages when appropriate

13
 Pre-Pregnancy Assessment
Genetic counseling:

A pre-pregnancy information given to couples with family history of

congenital and inherited disorders, the recurrence risks.

General screening programs:

The aim is to identify some of the common genetic disorders in a

community.

14
 Pre-natal Diagnostic Procedures

History Taking

Abnormal findings during routine examination

Abnormal findings during routine investigations

Specific Antenatal diagnostic procedures

15
Suspicious Findings On Clinical Examination
A higher incidence of congenital anomalies
are detected in association with:
Oligohydramnious:
– renal dysplasia, renal agenesis,
– bladder outlet obstruction and
– intrauterine growth retardation.
Polyhydramnios:
– CNS anomalies: anencephaly, hydrocephaly.
– GI malformations: Tracheoesophageal fistula, duodenal
atresia.
Threatened abortion.
Unexplained IUGR.
16
Suspicious Findings On Routine Investigations

Suspicious findings on ultrasound screening:

Early IUGR
IUGR
Oligohydramnios
Hydramnios
Restricted fetal movements

17
Abnormal maternal serum alpha-fetoprotein
(MSAFP)
MSAFP >2.5 MOM)
–NTD,
–Abdominal wall defects
–urinary obstruction, renal anomalies:
–osteogenesis imperfecta,
–Turner’s syndrome, and
–Rh disease.
–Obstetrical complications.
MSAFP <0.2 MOM)
–Chromosomal trisomies of the fetus.
–Gestational trophoblastic disease,
– Fetal death

18
 Specific Prenatal Techniques
Non-invasive techniques:
Malformation ultrasound scan
MRI.
Invasive techniques:
Amniocentesis
Chorionic villous sampling (CVS),
Cordocentesis,
Fetoscopy
Tapping of fluid filled fetal structure

19
1. Amniocentesis
It is the most frequently and the established
invasive procedure to be performed.
Indications of amniocentesis
Chromosomal abnormality,
open neural tube defect,
inborn error of metabolism.
2. chorionic cells (fetal in origin)
– A decision for termination, if necessary, could be taken at
an earlier stage of pregnancy with greater safety and less
legal and religious concerns.

20
Laboratory Investigative Procedures
Chromosome analysis:
simple cytogenic techniques

special culture and examination

Biochemical analysis:

Bilirubin in rhesus isoimmunization

Microvillar enzymes from the fetal gut

Alpha-fetoprotein:
21
What to Do when a CFA is Discovered?

Termination of pregnancy:

Prenatal therapy or surgery

Medical treatment:

Surgical treatment:

22
What to Do when a CFA is Discovered?
Congenital anomalies requiring urgent surgical:
1. Gastrointestinal tract obstruction: pyloric stenosis, esophageal
atresia, intestinal atresia, duodenal atresia, jejuno-ileal atresia, colonic
atresia, ano-rectal malformations.
2. Urinary tract obstruction.
3. Congenital diaphragmatic hernia.
4. Exomphalos and extrophy (bladder cloaca).
5. Open neural tube defects.
6. Congenital adrenal hyperplasia.

23
Prevention of CNS Anomalies
1. Correction of dietary habits:

2. Peri-conceptional folate administration.

3. Peri-conceptional control of DM

4. Special tests during pregnancy

24
 Some Congenital Fetal Anomalies
Anomalies of the Nervous System

Anomalies of the GIT

Anomalies of the Genito-urinary Tract

Cardiovascular Anomalies

Anterior Abdominal wall defects

Diaphragmatic hernia

Down’s Syndrome
25
Non Immune Hydrops Fetalis
 1. CNS Abnormality
A. Anencephaly
is a lethal anomaly due to the absence of
The membrane-ossifying bones of the cranial vault
The cerebral hemispheres
diagnosis:
Clinical features: Polyhydramnios & absence of head).
Investigations: MSAFP>2.5
Management :
Elective abortion
Vaginal delivery

26
27
 B. Hydrocephalus
Def: is an excess of cerebrospinal fluid within
the ventricles, and the subarachnoid space.
Due to
Congenital cerebral malformations:

Congenital fetal infections

Intrauterine intracranial hemorrhage.

Obstruction of the aqueduct of Sylvius

Chromosomal abnormalities: triploidy, trisomy 18,

28
Pictures of hydrocephalus

29
Antenatal diagnosis of hydrocephalus:
Clinical:
– Polyhydramnios.
– Large size head.
– Breech presentation is common
– During labor, vaginal examination: Wide sutures, large fontanelles...
Ultrasound:
 serial ultrasound studies are important to avoid false positive
diagnosis.
Hydrocephalus is commonly associated with:
 spina bifida, clubfoot,/ imperforate anus.
Management
 Termination if confirmed at 2nd TM
 cerebral cortex thickness >10mm then (ventriculo-peritoneal shunt)
30
 3. Microcephaly
is an abnormally small head.
Diagnosis depends on biometry:
reduced
 OFD
 BPD
Complications:
Mental retardation:
The presence of associated
anomalies

31
 C. Spina bifida
is a defect in the spine resulting from failure of the two halves
of the vertebral arch to fuse.

Ultrasound features of spina bifida:

– The features appear by 18-20 weeks gestation

– The posterior ossification centers of the spine, at the level

of the defect are widely spaced.

– The vertebral segment appears in U-shape.

– The defect may be visualized on longitudinal scanning.

– There is restricted motility of the lower limbs

32
Development of normal and bifida of spinal

33
34
35
 Types:Spinal bifida
1. Spina Bifida Occulta:

 The bone only is affected, while the spinal cord and the

membranes are intact.

 There may be a patch of hairy skin or a dimple over the

affected area.

 It has a good prognosis.

 No treatment is required.

36
Types ….
2. Spina bifida cystica ‘ overta’ which includes:
1. Meningocele. It is protrusion meninges bony and skin.
2. Meningomyelocele:
• It is a protrusion tissue with the meninges.
• The defect is in the midline&affects the skin, muscles,
bone
• The membrane is easily ruptured
1. Myelocele:
No skin or meninges to cover the lesion.
It is usually incompatible with life.

Immediate care after delivery:

Cover the lesion with a sterile non-adhesive dressing.
Search for associated malformations
Consult a neurosurgeon.
37
Digestives System Abnormality
1. Anterior Abdominal Wall Defects
The defect in closure may involve the lower part of
abdominal wall only, or bladder, urethra and penis,
and/or clitoris and labia.

Unfortunately high percentage of cases have an

associated cardiac and chromosome abnormalities.

38
Types:Anterior Abdominal Wall Defects
1.1 Omphalocele (exomphalos): Congenital herniation of some
of the intra-abdominal contents through the umbilical ring.

1.2 Gastroschisis – Hernia of the umbilical cord

1.3 Ectopia vesicae: (Exstrophy of bladder)

the defect involves the bladder. [Exstrophy of bladder: The trigone
and urethral orifices are exposed]

39
40
Management of defects of the anterior abdominal wall:

Immediate care:

Do not clamp protruding mass. Clamp the umbilical cord few

centimeters distal to the swelling.

Keep the hernial sac moist and warm, using pads soaked in a normal

saline solution.

Protect from irritation, traumatic injury of covering membrane or

organs and from infection.

Empty the stomach of air with a nasogastric tube.

Surgical corrective repair.

41
 3. Cleft Lip and Cleft Palate
Several teratogens may cause either of the two conditions.
Cleft Lip: It is cleft in the upper lip.
It may be unilateral or bilateral.
a small notch in the vermilion to a complete separation to the nose.
There may be feeding problems.
It is often associated with floor cleft palate.
Surgical repair can be done in the first few days of life.
Cleft Palate:
Bifid uvula. A cleft on midline uvula.
Cleft soft palate /bony palate
Gap in the alveolar arch.
Feeding problems may develop e.g. aspiration and infection.
Corrective surgery: best results if performed around 1yr of age.
Postoperative complications: are not rare.
– Recurrent otitis media.
– Speech and hearing problems.
42
Esophageal atresia/Fistula

43
Sign and symptoms of EF
Feeding difficulty
Vomiting
Respiratory distress syndrome
Cyanosis

44
 4.Urogenital System Abnormalities
3.1 Renal Agenesis
It is a rare abnormality. It is fatal when bilateral.
Potter’s syndrome:
– Renal agenesis, oligohydramnios, and IUGR,
3.2 Obstructive uropathy:
Various causes of obstruction to urinary flow.

Ultrasound diagnosis:
Enlarged bladder and/or hydronephrosis.

Features after delivery: enlarged bladder and/or hydronephrosis.

Types:
 Pelviureteric junction obstruction I is acute obstruction.

 Posterior urethral valves: occur in male and dilation of renal track

 Complete urethral stenosis: complete absence of amniotic fluid

45
3. Anomalies of the External Genitalia
Undescended Testicles(cryptorchidism)
Epispadius /Hypospadius
Bladder exstrophy:
Inguinal hernia

46
 Skeletal defects
 Hands and Feet

 Polydactyly=extra digits Usually an inherited trait

 Syndactyly

 The Foot and Toes

 Clubfoot(e.gTalipes Equin-ovarus (cavus, adductus, varus,

equinusCAVE).

47
MSA

48
4. Cardiac Anomalies
 Normal structured and function of heart in Newborn & Adult

49
Normal fetal life circulation

50
51
 Congental ……
Some are minor self-limiting or easily correctable defects
while some are serious and can be lethal.
The common lesions are
1. Atrial Septal Defect(ASD)
2. Ventricular Septal Defects(VSD)
3. Pulmonary Stenosis(PS/AS)
4. Patent Ductus Arteriosus(PDA)
5. Fallot’s Tetralogy(FT)
Incidences :0.6-0.8% live birth

52
 Diagnosed by
Ultrasound examination of the fetal chest

Fetal Echocardiography

EKG

City scane

MRI
53
54
 Congenital Heart Disease

55
Ventricular Septal Defect

56
Pulmonary stenosis

57
Patent Ductus Arteriosus

58
Tetralogy of follot

59
Nada’s heart diseases classification Criteria
 Nada’s Minor Criteria
 Nada’s Major Criteria
 Systolic murmur without thrill
 Systolic murmur with thrill
 Abnormal S2
 Diastolic murmur
 Abnormal BP (hypo /
 Cyanosis (central)
hypertension)
 Congestive cardiac failure
 Abnormal CXR

 Abnormal ECG

 At birth, Nada’s criteria are used to evaluate a newborn and the

presence of one Major or two Minor Criteria indicates Presence of
60 Congenital Heart Disease.
Blush discoloration on tetralogy folate

61
MANAGEMENT
SURGICAL CORRECTION
CARDIAC CATHETERZATION

62
 4.2 Diaphragmatic Hernia
Pulmonary hypoplasia is a common serious
associated Chromosomal anomaly.

diagnosis by ultrasound (cystic spaces within the

chest).

Presentation at birth:
Respiratory distress, scaphoid abdomen, displaced
apex beat.

Radiological examination: intrathoracic bowel shadows

63
 4.3 Hydrops Fetalis
Hydrops fetalis is excessive fluid accumulation within the fetal
soft tissues (tissue edema) and body cavities (effusions).

Ultrasound features of full blown hydrops:

Increased skin thickening: > 5 mm.

Placental thickening: > 4 cm.

Body cavities: Significant pleural and pericardial effusions and ascites.

64
 Hydrops Fetalis
Causes of fetal hydrops:
Immune hydrops fetalis.
Rh isoimmunization.

Non-immune hydrops fetalis: Generally high incidence of mortality.

Fetal cardiac arrhythmias e.g. supraventricular tachycardia.

Fetal structural cardiac anomalies e.g. hypoplastic left heart

Hypoproteinemia

Congenital nephrosis.

Intrauterine infections: TORCH

Chromosomal abnormalities
Congenital hematological disorders
Twin-to-twin transfusion.

65
 4.4 Down’s syndrome
It is Trisomy 21 syndrome.
Incidence: is 1:600 but rises with increase of maternal age.
– 1:365 at 36 years and 1:40 at the age of 40 years
Neonatal features:
Head: Flat face and flat occiput, third fontanelle, nose: small, flat
nasal bridge, mouth: small and the tongue protrudes.

Neck: short, broad and loose folds in posterior neck.

Hands: short metacarpals & phalanges, Hypotonia ,Short humerus &

femur

Heart: High cardiac defects e.g artrioventricular canal defect.

Increased incidence of leukemias

66
Gastrointestinal: Duodenal atresia.
 Antenatal Diagnosis
Second Trimester Screening
The Triple Test

The Quad Test

Triple Test + Dimeric Inhibin A (DIA)

Integrated first and Second Trimester Screening

Diagnostic procedures MUST involve genetic

testing of samples obtained from the baby
67
68
 Quies 10% for 15 min
1. What is differences b/t congenital
anomaly and congenital malformation
2. What are the 2 major cause of
congenital anomaly
3. List and explain two CNS anomaly
4. List cyanotic and acyanotic cardiac
problems
5. List and explain drug category during
pregnancy
6. 69What are the teratogenic effects before
70