Prenatal diagnosis of 913 fetuses samples using copy number variation sequencing.

ABSTRACT:

Background

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.

Methods

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.

Results

In total, 123 cases (13.47%) had abnormal karyotypes, including 109 cases with chromosome number abnormalities and 14 cases of chromosomal structural abnormalities. Thirty-seven (4.05%) cases with pathogenic CNVs were detected. Th

SUBMITTER: Lan L 

PROVIDER: S-EPMC8243933 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature