Prevalence, natural history, and clinical outcome of mild to moderate ventriculomegaly.

OBJECTIVE

To estimate the prevalence, associated anomalies, progression, and clinical outcome in fetuses diagnosed with mild to moderate ventriculomegaly at 18-24 weeks of pregnancy.

METHODS

This was a prospective population-based study from the North of England. Data were extracted from the U.K. Northern Congenital Abnormality Survey for cases identified during 1994-2008. Additional anomalies present were categorized according to European Surveillance of Congenital Anomalies guidelines. Differences between isolated and nonisolated ventriculomegaly were examined by either Fisher's exact test or Mann-Whitney U test. Changes in prevalence were examined by the χ² test for trend.

RESULTS

There were 355 cases of confirmed mild to moderate ventriculomegaly in singleton pregnancies at 18-24 weeks of gestation among 454,080 registered births, giving a total prevalence of 7.8 per 10,000 registered births (95% confidence interval [CI] 7.0-8.7). The minimum rate of chromosomal anomaly and trisomy 21 (including cases karyotyped postnatally) in isolated cases (ie, in which no other structural anomaly was identified prenatally) was 10.2% (95% CI 6.1-16.0) and 4.5% (95% CI 2.0-8.7), respectively. Additional structural anomalies were identified prenatally in 43.1% of cases. Among isolated cases, 61.9% (95% CI 53.3-70.0) resolved by the final prenatal scan (the majority by 24 weeks of gestation) and 10.7% (95% CI 6.4-16.6) were found to have "missed" structural anomalies after birth. The probability of an infant death for isolated ventriculomegaly was 3% (95% CI 0.8-7.6).

CONCLUSION

This register-based study on mild to moderate ventriculomegaly provides unique epidemiologic and outcome data. Information from this study should aid in counseling parents.

LEVEL OF EVIDENCE: III.