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Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings
This study evaluated the effectiveness of prenatal Exome Sequencing (ES) in detecting genetic abnormalities in fetuses with various ultrasound findings, even in cases where ES was not initially indicated. The researchers compared ES with chromosomal microarray analysis (CMA) to identify Copy Number Variants (CNVs) and monogenic disorders. Among 59 pregnancies, common aneuploidies were detected in 10% of cases through QF-PCR, and no pathogenic CNVs were found in the …
