Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.

ABSTRACT:

Background

The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging. Nonimmune hydrops fetalis (NIHF), a fetal abnormality that is often lethal, has numerous genetic causes; the extent to which exome sequencing can aid in its diagnosis is unclear.

Methods

We evaluated a series of 127 consecutive unexplained cases of NIHF that were defined by the presence of fetal ascites, pleural or pericardial effusions, skin edema, cystic hygroma, increased nuchal translucency, or a combination of these conditions. The primary outcome was the diagnostic yield of exome sequencing for detecting genetic variants that were classified as either pathogenic or likely

SUBMITTER: Sparks TN 

PROVIDER: S-EPMC7650529 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature