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Objective <p>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.</p> Methods <p>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.</p> Results <p>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.</p> Conclusions <p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月2日

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  • Ioakeim Sapantzoglou,
  • Zacharias Fasoulakis,
  • Konstantinos Tasias,
  • Angeliki Rouvali,
  • Afroditi Pegkou,
  • Marianna Theodora,
  • Georgios Daskalakis,
  • Panagiotis Antsaklis

摘要

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.