The incremental yield of CMA over karyotype in fetal ventriculomegaly: a systematic review and meta-analysis

OBJECTIVE: The main objective of our study was to conduct a systematic literature review and a meta-analysis to evaluate the incremental yield of chromosomal microarray analysis compared to karyotyping in cases of fetal ventriculomegaly. METHODS: Our review was designed according to the PRISMA guidelines. It included all observational studies that reported the results of CMA testing in fetuses diagnosed with ventriculomegaly (both isolated and non-isolated),in fetuses with isolated ventriculomegaly, in fetuses with non-isolated ventriculomegaly, and in fetuses with mild isolated ventriculomegaly. RESULTS: 16 studies were included with a total of 2137 cases of affected fetuses that met the inclusion criteria for analysis. Combined data from these studies revealed an overall incremental yield of CMA over karyotyping of 7% (95% CI 4-10%) in cases with ventriculomegaly, 4% (95% CI 2-6%) in isolated cases, 10% (95% CI 6-16%) in non-isolated cases, and 2% (95% CI 1-4%) in mild isolated cases. CONCLUSIONS: Our findings may be useful in clinical practice to guide management options and the counseling of the couples to individualize patient care and facilitate clinicians when they come across such a common clinical entity.