The Importance of Congenital Anomaly

Scan Examination for Early Detection

A Case Report of Multiple Congenital Anomalies in
Multigravida

Dwi Anton, MD; Abarham Martadiansyah, MD

Pertemuan Ilmiah Tahunan XX Fetomaternal

Bandung, 15 – 22 Maret 2019
Introduction

• Congenital anomaly can be defined as any

abnormality present at birth, particularly structural
• Can be inherited genetically, acquired during a
period of gestation, or inflicted during parturition.
• Covers a wide spectrum of structural dimorphism
ranging from minor to serious medical/cosmetic
consequences to major anomalies with poor
prognostic outcome, long term disability.

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Introduction

• The anomaly caused by embryogenesis defect or

intrinsic abnormality.
• Could be single/multiple system organ involved,
(multiple congenital anomalies)
• 40—60% cases are idiopathic1-2
• Chromosomal abnormality is the most common
etiology, alone or with environmental factors

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Introduction

• Multiple congenital anomalies often associated

with chromosomal syndromes like Down Synd.,
Edward Synd., Klinefelter Syndr., Turner Syndr., and
Dandy-Walker Syndr.
• Identification of chromosomal abnormalities is one
of the prenatal diagnosis, by amniocentesis and
chorionic villus sampling

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Case Report

• This is a case of a 42 year old female, G4P3A0 29

week singleton cephalic presentation with
congenital anomaly in threatened preterm labor
• No significant medical/surgical history
• Took prenatal medication regularly, and remained
well throughout
• Denied smoking or drinking alcohol and never used
illicit drugs

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Case Report

• Routine laboratory tests were within normal limits

• Negative for toxoplasma; positive for rubella and
cytomegalovirus antibodies
• Patient was referred to fetomaternal clinic for
congenital anomaly scans
• Results: fetal anomaly scan at 29 weeks was grossly
abnormal.

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Case Report

• Fetal ultrasound showed agenesis of corpus

callosum, cerebellum, vermis hypoplasia dan
mega cysterna magna
• Thorax showed cardiomegaly with right cardiac
hypertrophy, M-wave ductus venosus and
tricuspid regurgitation with CTR>50%
• Abdomen showed omphalocele, umbilical cyst
• Extremities showed clenched hands and bilateral
CTEV

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Ultrasonography Examination

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Ultrasonography Examination

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Ultrasonography Examination

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 Hypoplasia cerebellum

Omphalocele

Clenched hand and bilateral

CTEV
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Case Report

• The patient was informed and consent to continue

her pregnancy.
• Patient was observed conservatively and
underwent caesarean section at 32 weeks.

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Discussion

• Dandy-Walker malformation: several

abnormalities of brain development
• A congenital brain malformation involving the
fourth ventricle and cerebellum
• Recognized at 18 weeks by an enlarged posterior
fossa, cystic posterior fossa mass communicating
with the fourth ventricle and vermian
hypoplasia/agenesis4,5,6

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Discussion

• Edward Syndrome (trisomy 18) is an autosomal

disease at chromosome 18,
• Diagnosis was made by prenatal history,
polyhydramnion, small placenta size, single
umbilical artery, intrauterine growth restricion,
cardiac anomaly and extremities anomalies,
confirmed by chromosomal analysis

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• Imaging of Trisomy 18
• 1st Trimester
- Increased nuchal translucency (NT) + other
anomalies
• 2nd Trimester
- Multiple major anomalies (none are hallmark)
- Choroid plexus cyst (CPC) is considered marker
- Almost never isolated finding
- Fetal growth restriction

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• 2nd Trimester anomalies in almost all fetuses with
T18
• Cardiac defects (90%)
• Musculoskeletal anomalies (75%)
• Urinary tract anomalies (35%)
• Brain anomalies (30%)
• Facial anomalies (20%)
• Cystic hygroma with our without hydrops (20%)
• Gastrointestinal anomalies (20%)
• Spine bifida (12%)

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Trisomy 13
• Holoprosencephaly (alobar, semilobar, lobar)
• Associated facial anomalies
• Bilateral or midline cleft lip and palate
• Hypotelorism, cyclopia, absent globes
• Nasal anomalies, proboscis
• Cardiac anomalies, omphalocele, poly
dactyly
• FGR

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• Ultrasonographic findings
• Central nervous system anomalies (70%)
• Facial anomalies 50%
• Cardiac defects (80%)
• Renal anomalies (50%)
• Musculoskeletal findings (50%)
• Gastrointestinal anomalies
• FGR in (50%): Typically early onset and
progressive

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Discussion

• Clenched hand is found during prenatal

ultrasonography, shows hand of fetus in clenced
position with overlapping fingers
• CTEV (congenital talipes equinovarus) is an
abnormality of the fetus’ inferior extremities.
• These anomalies are associated with congenital
anomaly syndrome caused by genetic factors,
neuromuscular embryogenetic disorder,
mechanical factor, and teratogen  chromosomal
anomaly8,9

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Discussion

• Omphalocele is a birth defect of the abdominal wall

• The infant’s intestine, liver, and other organs stick
outside of the belly.
• Caused by failure to fuse of lateral fold on early
embryogenesis phase
• Prenatal diagnosis is detected earlier at 11-14th weeks
• Ultrasonography seen as mass on the anterior midline,
containing abdominal organ herniated through central
defect at the basis of umbilicus

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Discussion

• The defect size is 2—2.5 cm with/without ascites.

• Polyhydramnion or oligohydramnion could be
associated with this anomaly

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Discussion

• In this case, ultrasonography scanning showed

gestational age of 29 weeks with hypoplasia
cerebellum (1.4 cm)  Dandy-Walker Syndrome
• Congenital anomalies of extremities, clenched
hand, CTEV, and polyhydramnion  Edward
Syndrome
• Prenatal diagnosis followed by termination mostly
found in multiple congenital anomaly cases

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Discussion

• Termination is one of the prevention method for

anomaly effect
• Gestational age has a role in timing of termination
• This patient was informed about her fetus’
condition and consent was taken to take the
conservative way to terminate pregnancy with
ethical considerations12,13,14,15

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 Fetus with clenched hand and bilateral CTEV

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Conclusion

1. In this case, diagnosis was made antenatally using

ultrasonography congenital scan
2. The management of pregnancy with multiple
congenital anomalies determined by
multidisciplinary team;
Gestational age has a role in timing of
termination;
Termination of pregnancy in 24 weeks gestational
age and above was preferred, but needed to pay
attention to various aspects.

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Conclusion

3. Pregnancy termination in cases like this is always

debatable.
Chances of fetus to survive outside of he womb is
considerable, but decision of termination should
involve medical ethics, religion, law, and choice
and consent from the patient and family.

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• Qs luqman 31:14 fase kandungan ibu
mengandung berjuang dengan perjuangan
yang sangat luar biasa
• QS al.anbiya 21: 89-90 istri yang baik
bermasalah kandungannya kami akan
perbaiki dengan syarat bergegas berbuat
banyak kebaikan
• QS al-isra 17: 82 syifaa obat yang secara
medis tidak ada obat secara medis maka
berserah kepada allah

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SAVE THE DATE
8th Indonesian Gynecological
Endoscopy Society
Annual Congress
October 10th – 13th 2019
Palembang – Indonesia
 THANK YOU

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