Long-term outcome in children with prenatally diagnosed central nervous system congenital malformations

Abstract

Aim: The aim of this study was to show epidemiologic data and long-term outcome of prenatally detected central nervous system congenital malformations (CNS-CM) in Clinical Hospital Center Rijeka. Methods: The data were collected retrospectively and partially prospectively in the last decade (2006-2015) by European registry for monitoring congenital anomalies protocol. During study period there were 30 131 births with total of 53 fetuses with isolated or multiple CNS-CM, which makes a total of 0.17 % of births. There were 57 malformations. Results: The most common malformations where defects of the neural tube 26/57 (46 %), hydrocephalus 10/57 (17.5 %), agenesis of corpus callosum 6/57 (10.5 %), holoprosencephaly 4/57 (7 %), Dandy-Walker malformation 4/57 (7 %) and other malformations 8/57 (14 %), what was statistically significant (P = 0.024). There where 18 livebirths and 4 stillbirths. Statistically significant was prenatal detection of malformation (P = 0.025) in 49/57 (92.4 %), and in 35/57 before 22nd week of gestation. Long-term outcome was evaluated in 16 of 18 livebirths, while data for two children was unknown. The average length of the follow-up was 5,3 years (Range:1-9 years). Two infants died within a period of three months, and one child died at age of 7 years and 9 months. The favourable outcome have 7/16 (44 %) and the adverse long-term outcome have 9/16 (65 %) children. Conclusion: Our results show similar results of those in available literature, good prenatal screening in detecting CNS-CM, but the long-term outcome was not favourable in the majority of cases. \textcopyright 2016, Croatian Medical Association and School of Medicine. All rights reserved.