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BACKGROUND: The aim is to evaluate the value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of high-risk pregnancies.METHODS: A total of 3459 pregnant women admitted to the Wuxi Maternal and Child Health Hospital between June 2020 and August 2022 were selected for this study. Both G-banding karyotype analysis and CMA were offered to all patients who underwent invasive prenatal diagnosis. Short tandem repeat (STR) analysis was performed to eliminate maternal contamination for interpretation.RESULTS: Chromosomal aberrations, including aneuploidies or triploid and mosaic aberrant karyotypes and copy number variants (CNVs) ≥5Mb, were detected by both G-banding karyotyping and CMA in 174 (5.0%) cases. A total of 326 (9.4%) cases with normal karyotypes were reported as CNVs in CMA, including 71 (2.1%) cases with pathogenic and likely pathogenic CNVs and 217(6.3%) cases with variants of uncertain significance (VOUS). On the other hand, 11 inversions, 23 balanced translocations, and 22 other chromosomal rearrangements were detected by karyotyping with normal CMA results.CONCLUSIONS: The top 3 detection rates of different indications by CMA or karyotyping were 43.5% for NIPT high risk, 17.5% for abnormal ultrasound, and 17.7% for other indications. CMA is an effective diagnostic tool for high-risk pregnancies in perinatal medicine.
Tao et al. (Mon,) studied this question.