Analysis of autosomal dominant genes impacted by copy number loss in 24,844 fetuses without structural abnormalities.

ABSTRACT:

Background

The broad application of high-resolution chromosome detection technology in prenatal diagnosis has identified copy number loss (CNL) involving autosomal dominant (AD) genes in certain fetuses. Exon sequencing of fetuses exhibiting structural anomalies yields diagnostic information in up to 20% of cases. However, there is currently no relevant literature about the genetic origin and pregnancy outcome of CNL involving AD genes in fetuses without structural abnormalities.

Results

This was a prospective study involving pregnant women who underwent amniocentesis for fetal copy number variation sequencing (CNVseq). Detection of parent-of-origin was suggested in cases of samples with CNL involving AD genes and the pregnancy outcome was monitored. Amniotic fluid samples f

SUBMITTER: Chen L 

PROVIDER: S-EPMC8812209 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature