Objective To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus.
Methods Data from four European registries of congenital malformations (EUROCAT). The registries included are all based on multiple sources of information and include information about live births, fetal deaths with GA >20 weeks and terminations of pregnancy after prenatal diagnosis of malformations (TOPFA). All cases from the four registries diagnosed with congenital hydrocephalus and born in the period 1996–2003 were included in the study. Cases with hydrocephalus associated with neural tube defects were not included in the study.
Results Ninety cases with congenital hydrocephalus were identified during the study period giving an overall prevalence of 4.81 per 10,000 births. There were 44 live births (49%), 4 fetal deaths (4%) and 42 TOPFA (47%). Non-cerebral malformations were diagnosed in 32 cases (36%) and karyotype anomalies in eight cases (9%).
Median GA at TOPFA was 21 weeks. Among live births 43% were diagnosed prenatally with a mean GA at 32 weeks (range 19–40 weeks) and a median GA at birth at 36 weeks. Thirteen live-born infants (30%) did not survive, nine of whom were diagnosed prenatally. The majority of deaths in live-born cases occurred within the first week of birth.
Conclusion Prevalence of congenital hydrocephalus falls within the European definition of a rare disease which is 5 per 10,000 births. Associated malformations and karyotype anomalies occur frequently together with congenital hydrocephalus. Prenatal diagnosis is often followed by termination of pregnancy and mortality among live births is high.