Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases.

ABSTRACT:

Background

The sources and variants types of the copy number variations (CNVs) in prenatal fetal, and the critical role of parental origin on the interpretation of fetal CNVs are unclear.

Methods

One hundred and forty-one prenatal core families with abnormal CNVs were selected and performed by low-coverage massively parallel CNV sequencing (CNV-seq).

Results

The data showed that 72.3% of fetal CNVs were derived from parents, and 27.7% were new variations. Sixty-three cases were heterozygous deletion, 70 cases were threefold duplication, six cases were complex deletion and duplication, and two cases were fourfold repeats. That means the rate of heterozygous deletion and duplication was approximate one. In addition, in parental-derived fetal abnormal CNVs reports, befor

SUBMITTER: Shi P 

PROVIDER: S-EPMC6785431 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature