Low-Pass Genome Sequencing Reveals Associations Between Chromosomal Aberrations and Ultrasonographic Anomalies in a Cohort of 19,452 Fetuses
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This study aimed to assess the detection rates of aneuploidies and pathogenic copy number variations (pCNV) using low-pass genome sequencing in a large cohort of fetuses, particularly focusing on their associations with various ultrasonographic anomalies. The results revealed significant differences in detection rates, with fetal hydrops showing the highest rates for aneuploidies, and identified specific chromosomal aberrations linked to certain anomalies, thereby enhancing the understanding of genetic factors in prenatal diagnosis.
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