Congenital central nervous system anomalies: Ten-year single center experience on a challenging issue in perinatal medicine

Emine Aydın,Melek Büyükeren,Murat Yurdakök,Hasan Uçkan,Atakan Tanacan,Mehmet Sinan Beksaç

doi:10.4274/jtgga.galenos.2018.2018.0079

Abstract

Objective:Our goal was to highlight the prenatal diagnosis and management of central nervous system (CNS) anomalies through sharing our clinic’s experience.Material and Methods:We evaluated prenatal findings and postnatal outcomes of neonates who had a CNS anomaly diagnosis in our clinic over a ten-year period. A total of 183 cases with various CNS anomalies were included in the study. Birth or termination preferences of mothers were recorded in all cases, and postnatal diagnosis concordance and prognosis after surgical procedures were evaluated in mothers who chose to continue the pregnancy.Results:The mean maternal age was 28.2±5.5 years, mean gravida was 2.2±1.3, and the mean gestational age at diagnosis was 30.5±5.5 weeks. Seventy-five out of 183 (41%) patients chose to terminate their pregnancy. Twenty babies (26.6%) in the termination of pregnancy group had additional anomalies. One hundred eight patients gave birth at our institution. The mean birth weight was 3060±647.5 g, the mean gestational week at delivery was 37.9±1.7 weeks, and mean APGAR score (5th minute) was 8.8±2.3. Four neonates died on the postpartum first day. The postnatal diagnosis of 60 of the 108 (55.5%) patients who gave birth was concordant with the prenatal diagnosis, and 32 of the 108 (29.6%) babies underwent surgical interventions.Conclusion:CNS anomalies have a broad spectrum and variable prognoses. This study highlights the limitations of prenatal diagnoses, and the need for parents to have this information in order to determine the course of their pregnancy and prepare themselves for the postnatal challenging treatment/rehabilitation process.

Highlights

Central nervous system (CNS) anomalies are the second most common type of congenital defects after cardiac anomalies [1]
The postnatal diagnosis of 60 of the 108 (55.5%) patients who gave birth was concordant with the prenatal diagnosis, and 32 of the 108 (29.6%) babies underwent surgical interventions
We evaluated the maternal age, obstetric history, gestational age at prenatal diagnosis, US findings (CNS anomaly type), karyotyping results, presence of additional anomalies other than those of the central nervous system (CNS), fetal magnetic resonance imaging (MRI), pregnancy outcomes, perinatal complications, newborn information, postpartum examination results, postpartum surgical intervention, results of additional examinations in the neonatal intensive care unit, prognosis of those born in our center, and long-term follow-up of accessible cases

Summary

Introduction

Central nervous system (CNS) anomalies are the second most common type of congenital defects after cardiac anomalies [1]. CNS defects vary based on society and geography, they are reported to occur in 1 to 10 of every 1000 live births [2]. This congenital defect group can be screened by measuring maternal serum alphafetoprotein (ms-AFP) levels. Prenatal diagnosis is possible using ultrasonography (US) and/or fetal magnetic resonance imaging (MRI) [3,4] When these pregnancies result in birth, neonates with severe CNS anomalies require longterm intensive care, surgical intervention, and a prolonged treatment and rehabilitation process, all of which place a substantial material and spiritual burden on the families [2].

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Discussion

Conclusion