Appropriately Grown Baby With Multiple Congenital Abnormalities: A Case Report

Devangi Thakkar, BMEdSci, MBBS; Narendra Aladangady, MBBS, MRCP, FRCPCH


Medscape J Med. 2008;10(9):210 

In This Article

Case Report

Mrs. A is a 37-year-old Somali woman. She had no significant medical or surgical history, took no medications regularly during her pregnancy, and remained well throughout. She does not smoke or drink alcohol and has never abused drugs.

At presentation, she was gravida 11, para 7, with 3 prior miscarriages. Routine laboratory tests showed that she was blood group A, Rhesus-positive. She was negative for syphilis, HIV, and hepatitis B and C and was positive for rubella antibodies.

The fetal anomaly scan at 24+6 weeks was grossly abnormal: A large irregular cyst in the brain, possible dextrocardia, abnormal great vessels of the heart, and an atrioventricular septal defect were found. The fetus was rescanned at a specialist cardiology unit at 25+3 weeks and was found to have a perimembranous ventricular septal defect and dysmorphic atrioventricular valves. Mrs. A. was offered the opportunity for invasive testing considering the high likelihood of a chromosomal or genetic abnormality and future physical and mental handicap. Mrs. A. refused any invasive testing on religious grounds.

Subsequently, Mrs. A underwent further fetal scans at 32+4, 36+4, and 39+4 weeks. At no scan was fetal growth found to be compromised. The scan at 32+4 weeks revealed a right porencephalic cyst (31.0 mm x 19.0 mm x 15.0 mm), a posterior fossa cyst (13.0 mm x 48.0 mm x 15.0 mm), and a dilated cisterna magna. At this stage, bilateral overlapping fingers were also noted. The stomach was found to be collapsed.

Not having a diagnosis makes it extremely difficult for the pediatrician-in-charge to plan any immediate care for the baby after birth. Mr. and Mrs. A. were counseled by the consultant neonatologist, and it was decided that if the baby was born in poor condition, he/she should not be resuscitated and should instead be given to the mother to cuddle. However, if the baby was crying and well, he/or she should be taken to the neonatal unit for further management.

Because of the unstable lie of the fetus, polyhydramnios, and cord presentation, Baby A was born by elective lower-segment cesarean section at gestation 40+3 weeks.

Baby A was a girl, with a birth weight of 3.25 kg (25th percentile), and was born in reasonably good condition. The APGAR scores were 6 at 1 minute, 9 at 5 minutes, and 10 at 10 minutes of age. The cord blood gases were within the normal range. In view of the multiple anomalies, Baby A was transferred to the neonatal unit in a transport incubator.

On examination, Baby A looked pink and well-perfused, was breathing on her own, and had oxygen saturation of 90% to 99% in 60% head box oxygen. Her heart rate was 162 beats per minute, blood pressure was 68/49 mm Hg, and her heart sounds were normal with no added sounds or murmurs. Her respiratory rate was 60 breaths per minute. Her abdomen was soft, nondistended, and nontender. Neurologically, Baby A was active and the anterior fontanel was soft and not bulging.

Baby A's eyes appeared deep set, with narrow palpebral fissures bilaterally. Her mouth was small, with a central notch in the upper gums and an intact palate. Her ears appeared normal. Her neck appeared to be short, and her chest was broad, with widely spaced nipples (Figure 1a). The posterior folds of the neck were excessive. No masses were felt in the abdomen, and genitalia appeared normal. Hip examination was normal. Her fingers were kept closed, with the second and fifth fingers overlapping the third and fourth fingers, respectively (Figure 1b). The fingers were all hyperextendable. The right hand had a single palmar crease. The right foot had a calcaneal valgus deformity (Figure 1c). The toes were abnormal with a short big toe, and partial syndactyly of the second and third toes of the right foot. The characteristic "rocker-bottom" deformity of the feet was also noted (Figure 1d).

Figure 1

Physical features of Baby A: (a) short neck, broad chest, and widely spaced nipples; (b) characteristic overlapping fingers seen in trisomy 18; (c) calcaneal valgus deformity; (d) rocker-bottom foot.

These photographs have been provided after explicit consent from Baby A's parents.

Baby A received 10% dextrose infusion for 48 hours of life. Nasogastric tube enteral feed was started on day 1, and she was tolerating total enteral feeds by day 3. Intravenous benzylpenicillin and gentamicin were started because of maternal group B Streptococcus combined with the baby's oxygen requirement. Antibiotics were stopped on day 3 as blood cultures remained negative.

On day 2 of life, Baby A was stable with no apneic episodes, and her oxygen requirement was reduced to 24%. Cranial ultrasonography was done and revealed 2 cysts. The cerebellum could not be visualized. A preliminary karyotype by fluorescence in situ hybridization (FISH) on day 3 of life revealed 3 copies of chromosome 18, consistent with Edwards syndrome, and this was confirmed by further chromosome analysis.


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