Genetic diseases underlying a spectrum of fetal effusions.

ABSTRACT:

Objectives

Nonimmune hydrops fetalis is well understood to be heterogenous and the common endpoint of many genetic diseases. However, less is known about the prevalence and presenting features of genetic diseases that underlie other types of fetal effusions such as single effusions, leaving uncertainty in clinical practice about optimal approaches to testing and counseling for these pregnancies. We aimed to determine the diagnostic yield of exome sequencing by type of fetal effusion and presence of concurrent structural abnormalities and to identify the unique presenting features of underlying genetic diseases.

Study design

We conducted a prospective cohort study of pregnancies with nonimmune hydrops fetalis and other fetal effusions, with participants enrolled from across t

SUBMITTER: Gulrajani NB 

PROVIDER: S-EPMC12370382 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature