Genetic testing for unexplained perinatal disorders.

ABSTRACT:

Purpose of review

Perinatal disorders include stillbirth, congenital structural anomalies, and critical illnesses in neonates. The cause of these is often unknown despite a thorough clinical workup. Genetic diseases cause a significant portion of perinatal disorders. The purpose of this review is to describe recent advances in genetic testing of perinatal disorders of unknown cause and to provide a potential diagnostic strategy.

Recent findings

Exome and genome sequencing (ES and GS) have demonstrated that significant portions of perinatal disorders are caused by genetic disease. However, estimates of the exact proportion have varied widely across fetal and neonatal cohorts and most of the genetic diagnoses found in recent studies have been unique to individual cases. Having

SUBMITTER: Hays T 

PROVIDER: S-EPMC8221376 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature