[Chromosomal microarray analysis for lateral ventriculomegaly in fetus].
Zhiqiang Zhang1, Yingjun Xie, Jianzhu Wu
1Fetal Medicine Center, Department of Gynaecology and Obstetrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, P.R. China. chenbaojiang@126.com.
Summary
Chromosomal microarray analysis (CMA) reveals abnormalities in 26% of fetuses with lateral ventriculomegaly. The risk is significantly higher when ventriculomegaly is associated with other fetal anomalies, underscoring the need for prenatal diagnosis.
Area of Science:
- Prenatal diagnosis
- Fetal medicine
- Genetics
Background:
- Fetal lateral ventriculomegaly is a common ultrasound finding.
- Chromosomal abnormalities are a significant concern in fetuses with ventriculomegaly.
Purpose of the Study:
- To investigate the association between fetal lateral ventriculomegaly and chromosomal microarray analysis (CMA) abnormalities.
- To determine the diagnostic yield of CMA in fetuses with isolated and non-isolated lateral ventriculomegaly.
Main Methods:
- Retrospective analysis of 50 fetuses with lateral ventriculomegaly and normal karyotype.
- Classification of ventriculomegaly as mild (10-15 mm) or severe (≥15 mm).
- Division into isolated and non-isolated groups based on associated anomalies.
Main Results:
- Overall, 26% of fetuses showed CMA abnormalities.
- Severe ventriculomegaly had a higher abnormality rate (66.7%) compared to mild (20.9%).
- Non-isolated ventriculomegaly demonstrated a significantly higher incidence of CMA abnormalities (37.9%) than isolated cases (9.5%).
Conclusions:
- Chromosomal microdeletions and microduplications are common findings in fetal lateral ventriculomegaly.
- The presence of additional anomalies substantially increases the likelihood of CMA abnormalities.
- Prenatal CMA is crucial for accurate diagnosis in fetuses with lateral ventriculomegaly.
