Hydrops: Diagnosing & Redefining Outcomes With Precision Study

Running, not enrolling · Not applicable

Conditions studied: Hydrops Fetalis, Birth Defect, Fetal Anomaly

In brief

This is a national, prospective study designed to investigate the genetic etiologies of non-immune hydrops fetalis (NIHF) and other birth defects. At least half of prenatally diagnosed NIHF cases remain of unknown etiology after standard work up, and a substantial proportion of other birth defects remain of unknown etiology as well. The investigators are performing exome sequencing (ES) for the affected fetus or neonate in unexplained cases, as well as enrolling cases with a genetic explanation to represent the full spectrum of diseases underlying NIHF and other birth defects.

Key facts

Study ID

NCT03412760

Run by

University of California, San Francisco

People needed

500

Starts

2018-10-11

Expected to finish

2027-02-01

Last updated by the study team

2026-04-17

Who can join

Age: 18 and older, up to 55. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Singletons or dichorionic twin pregnancies that are diagnosed prenatally with non-immune hydrops fetalis (NIHF) or another birth defect. Cases with chromosomal abnormalities, postnatal samples, and stillbirths will still be included.

You may not qualify if…

• Monochorionic twin pregnancies and cases of hydrops fetalis that are attributed to red cell alloimmunization (due to hydrops fetalis caused by different pathophysiologic processes).

Where it is running

• University of California, San Francisco — San Francisco, California, United States

Full record on ClinicalTrials.gov

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