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

Abstract

We present the case of a full-term baby girl (Baby A) born with multiple congenital abnormalities that were suggested by prenatal scans. The mother had declined further antenatal diagnostic testing. Postnatal chromosomal analyses revealed the karyotype of the baby to be trisomy 18. After detailed, compassionate discussions with the parents, it was decided to provide palliative care in the best interest of the baby, who died on day 15 of life. This case illustrates ethical difficulties in the care of neonates with congenital anomalies with poor prognoses, such as trisomy 18. Recommending palliative care and "do not resuscitate" orders to optimistic parents is extremely difficult and needs to be done in the most sensitive manner possible.

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Table. Various Documented Abnormalities Associated With Edwards Syndrome
Neurologic	Apnea; microencephaly/anencephaly/hydrocephaly/holoprosencephaly; cerebellar hypoplasia; meningocephalocele/myelomeningocele; Arnold-Chiari malformation; arachnoid cyst; hypoplasia/aplasia of the corpus callosum
Craniofacial	Microphthalmia; ocular hypertelorism; epicanthal folds; short palpebral fissures; cataracts; corneal clouding; abnormal retinal pigmentation; short, upturned nose; choanal atresia; micrognathia; microstomia; infrequent cleft lip; cleft palate; preauricular tags; low-set and malformed ears
Skeletal	Clenched hands with the index finger overriding the middle finger and the fifth finger overriding the fourth finger; radial hypoplasia or aplasia; thumb aplasia; syndactyly of the second and third digits; rocker-bottom feet; talipes equinovarus; short neck with excessive skin folds and short sternum
Cardiac	Ventricular septal defects; pulmonary or aortic valve defects; atrial septal defects; patent ductus arteriosus; overriding aorta; coarctation of aorta; hypoplastic left heart syndrome; tetralogy of Fallot; transposition of great arteries

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Appropriately Grown Baby With Multiple Congenital Abnormalities: A Case Report

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