Outcome of children with prenatally diagnosed central nervous system malformations

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Abstract
Objective To study the outcome of pregnancies with a prenatally diagnosed central nervous system (CNS) malformation. Methods Leiden University Medical Centre is a tertiary referral center for fetal ultrasound and invasive prenatal diagnosis. Maternal and neonatal records of prenatally diagnosed CNS malformations were retrospectively reviewed over a 6‐year period (1993–1998). Information on current development of surviving children was obtained by contacting the care‐giving pediatric neurologist. Results During the study period 124 fetuses were diagnosed with a CNS malformation. Data on pregnancy and delivery were available for 118 pregnancies. Additional malformations were present in 47% of fetuses (55/118). A total of 46% of pregnancies (54/118) were terminated, and 15% (18/118) ended in spontaneous intrauterine death. A total of 39% of pregnancies (46/118) resulted in live birth, and 29 of the infants were still alive at the age of 3 months. One child was lost to follow‐up, one infant died at the age of 4 months, and two children died at the age of 3 years. Psychomotor development of the remaining 25 children was normal for five, slightly disabled for seven, moderately disabled for five and severely disabled for eight. Conclusion Due to the high rate of termination of pregnancy and to the frequent association with other anomalies, the survival rate of pregnancies in which a CNS defect had been diagnosed prenatally was only 25%. More than 50% of surviving children were moderately or severely disabled. Copyright © 2002 ISUOG. Published by John Wiley & Sons, Ltd.