Chromosomal microarray analysis vs. karyotyping for fetal ventriculomegaly: a meta-analysis

Area of Science:

• Prenatal Diagnosis
• Medical Genetics
• Fetal Medicine

Background:

• Chromosomal abnormalities are a significant cause of fetal ventriculomegaly (VM).
• Mild or isolated fetal VM cases often lack clear indications for pregnancy termination.
• Accurate genetic assessment is crucial for informed decision-making.

Purpose of the Study:

• To determine the incidence of chromosomal abnormalities in fetuses with VM.
• To evaluate the incremental yield of chromosomal microarray analysis (CMA) in diagnosing VM-associated chromosomal abnormalities.
• To provide data for improved genetic counseling and prognostic evaluation.

Main Methods:

• Systematic literature search of Chinese and English databases (1991-2020).
• Inclusion of 23 studies with 1635 patients diagnosed with VM via ultrasound or MRI.
• Meta-analysis using R software to calculate incidence and incremental yield rates.

Main Results:

• The overall incidence of chromosomal abnormalities in fetuses with VM was 9% (95% CI: 5%-12%).
• Chromosomal microarray analysis (CMA) demonstrated an 11% incremental yield (95% CI: 7%-16%).
• Incidences varied by VM severity and isolation: mild VM (9%), severe VM (5%), isolated VM (3%), and non-isolated VM (13%).

Conclusions:

• Chromosomal microarray analysis (CMA) enhances the detection of abnormalities in fetal VM cases.
• Fetal karyotype analysis is recommended upon VM confirmation to rule out chromosomal abnormalities.
• CMA is particularly recommended for pregnant women with fetal VM undergoing invasive prenatal diagnosis, though it doesn't replace karyotype analysis.