[Value of chromosomal microarray analysis for fetuses with duodenal obstruction]

Area of Science:

• Genetics
• Prenatal Diagnostics
• Medical Genetics

Background:

• Fetal duodenal obstruction (DO) is a significant congenital anomaly.
• Accurate prenatal diagnosis of DO is essential for appropriate management and counseling.
• The genetic underpinnings of DO require further investigation.

Purpose of the Study:

• To evaluate the diagnostic utility of chromosomal microarray analysis (CMA) in fetuses diagnosed with duodenal obstruction (DO).
• To identify genomic abnormalities associated with fetal DO.
• To assess the correlation between genetic findings and pregnancy outcomes.

Main Methods:

• Fifty-one fetuses with ultrasound-identified DO were enrolled.
• Samples (amniotic fluid or umbilical blood) underwent CMA.
• Pregnancy outcomes were meticulously followed for all participants.

Main Results:

• Genomic abnormalities were detected in 15.7% of fetuses with DO.
• Identified abnormalities included chromosomal aneuploidies and copy number variations (CNVs), such as 17q12 microduplication and various 13q deletions/duplications.
• Candidate genes like EDNRB and HNF1B were implicated in fetal DO.
• No significant difference in CNV detection rates was observed between isolated DO and DO with other anomalies.

Conclusions:

• A significant correlation exists between fetal DO and genomic copy number variations.
• CMA is a valuable tool for detecting microdeletions/microduplications in fetal DO.
• Prenatal diagnosis using CMA aids in genetic counseling and prognosis assessment for affected fetuses.