Chromosomal Microarray Evaluation of Fetal Ventriculomegaly
Arik Toren1,2, Sharon Alpern1,2, Michal Berkenstadt3,2
1Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel.
The Israel Medical Association Journal : IMAJ
|October 18, 2020
Summary
Genetic aberrations are a common cause of fetal ventriculomegaly, particularly when other anomalies are present. Chromosomal microarray (CMA) testing is recommended for non-isolated cases to identify genetic diagnoses.
Area of Science:
- Prenatal diagnosis
- Medical genetics
- Fetal medicine
Background:
- Fetal ventriculomegaly is a frequent finding during prenatal screening.
- Identifying the underlying causes of fetal anomalies is crucial for management and counseling.
Purpose of the Study:
- To determine the frequency of genetic aberrations in fetuses diagnosed with ventriculomegaly.
- To compare the rates of genetic abnormalities between fetuses with ventriculomegaly and a control group.
Main Methods:
- A historical cohort study included 164 fetuses with diagnosed ventriculomegaly.
- Karyotype and chromosomal microarray (CMA) analyses were performed.
- Subgroup analysis considered laterality, severity, and isolation of ventriculomegaly.
Main Results:
- Karyotype aberrations were significantly more frequent in fetuses with ventriculomegaly (6.6%) than in controls (0%).
- CMA identified aberrations in 24.1% of non-isolated ventriculomegaly cases, compared to 6.2% in controls.
- Genetic aberration rates were not linked to the degree of dilatation or laterality.
Conclusions:
- The utility of CMA for isolated fetal ventriculomegaly remains uncertain.
- CMA testing is advisable when additional anomalies are detected during prenatal anatomical surveys to avoid missing genetic diagnoses.
