Outcome of prenatally diagnosed central nervous system malformations in a tertiary center in Singapore

Abstract

Background: Central nervous malformations are associated with major morbidity and mortality in infants and children. Knowledge of the data about their outcome and neurodisability will help in perinatal counseling and aid in parental decision-making. Objective: To study the fetal and neonatal characteristics of prenatally diagnosed central nervous system (CNS) malformations and the neurodevelopmental outcome of the survivors over 5years. Methods: Maternal and neonatal records of prenatally diagnosed CNS malformations were retrospectively reviewed over five years (January 2005 till December 2009). The relevant fetal and neonatal data were collected from the database maintained by the birth defect registry. The long-term neurodevelopment data was obtained from case records. Results: There were 116 cases of fetal structural CNS malformations. Termination of pregnancy or fetal deaths occurred in 80/116 (69%) of cases, of which 68% had Neural tube defects (NTD). There were 36 live births, of which six infants died of anencephaly and were not included in the study. Among 30 live births 17% of infants needed ventilator support and 17% had neurosurgical intervention. On follow up 37% of the cohort had neurodevelopmental delay, 10% died, 30% had normal neurodevelopmental outcome and 23% defaulted on follow-up. Conclusions: In two-thirds of the fetuses of prenatally diagnosed CNS malformations, termination of pregnancy or fetal death occurred. Nearly half of the survivors who were followed up had a composite outcome of death or global neurodevelopmental delay and need for support services.