Abstract

The outcome of infants with congenital anomalies has primarily been based on available data from liveborns. However, fetal and neonatal populations are not comparable. This study evaluates the outcome for fetuses from the time of prenatal diagnosis. Cases with a prenatal diagnosis of duodenal obstruction, gastroschisis and omphalocele were followed prospectively from the time of the diagnosis, through pregnancy and birth and into the postnatal period. Of 29 fetuses with duodenal obstruction 4 (14%) died in utero in the third trimester; none of these 4 had any significant associated anomalies. Twenty-one of the 29 fetuses (72%) survived, but only six had no associated anomalies including normal karyotype and a normal development during the postnatal period. The overall survival of 64 fetuses with gastroschisis was 87.5%. All survivors had a favourable outcome. However, signs of fetal distress were found in the third trimester in 22% (13/60), leading to emergency Cesarean sections. Of 90 fetuses with omphalocele 21 (23%) survived but only 8 (9%) without sequelae. The rate of abnormal karyotype, mainly trisomy 18, and other lethal associated anomalies was high in fetuses with omphalocele. Fetal and neonatal populations are different. In general, a diagnosis made prenatally reflects a more severe condition with a higher risk for an abnormal karyotype and the spectrum of associated fetal anomalies, syndromes, sequences etc., than a newborn with the same diagnosis would have had. The earlier the diagnosis is made the higher the risk. In addition a certain anomaly, such as duodenal obstruction, in itself may increase the risk for intrauterine fetal death and/or increased risk for adverse outcome during delivery. The detailed knowledge of the spectra of anomalies and the consequences is important for the counselling and to prevent some risks.

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