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Published on: December 7, 2016
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Chromosomal microarray analysis in fetuses with aberrant right subclavian artery.
Summary
Aberrant right subclavian artery (ARSA) without other fetal abnormalities does not warrant chromosomal microarray analysis (CMA). However, CMA is recommended if additional ultrasound findings or aneuploidy risk factors are present, as it can detect chromosomal abnormalities missed by standard testing.
Area of Science:
- Prenatal Diagnosis
- Fetal Medicine
- Genetics
Background:
- Aberrant right subclavian artery (ARSA) is a common isolated fetal vascular anomaly.
- The association between ARSA and chromosomal abnormalities requires further investigation.
Purpose of the Study:
- To evaluate the association between ARSA and chromosomal microarray analysis (CMA) results.
- To determine the clinical utility of CMA in fetuses with isolated or non-isolated ARSA.
Main Methods:
- A multicenter study analyzed DNA samples from fetuses with ARSA using CMA.
- Clinical data included ultrasound findings, nuchal translucency, and maternal serum screening.
- Comparative genomic hybridization or single-nucleotide polymorphism array technology was employed for CMA.
Main Results:
- Of 63 fetuses with ARSA, 36 had isolated ARSA with no pathogenic variants found.
- In 27 fetuses with additional abnormalities or risk factors, five had pathogenic CMA results.
- Detected abnormalities included trisomy 21, 22q11 deletion/duplication, and 1q21 duplication, some missed by standard testing.
Conclusions:
- In fetuses with isolated ARSA, invasive procedures for CMA are not indicated.
- CMA is recommended for fetuses with ARSA and additional ultrasound abnormalities or aneuploidy risk factors.
- CMA identified significant chromosomal findings not detectable by conventional fetal karyotyping.
