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The present study aimed to explore the etiological relationship between fetal abnormalities and copy number variations (CNVs) with the aim of intervening and preventing the birth of children with birth defects in time. Samples of 913 fetuses with puncture indications were collected from January 2017 to December 2019. Karyotype analysis and CNV sequencing (CNV-seq) testing was performed for fetuses with ultrasonic abnormalities, a high risk of Down's syndrome and an adverse birth history. All cases were followed up. In total, 123 cases (
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