Summary

Eligibility
for people ages 18-55 (full criteria)
Location
at UCSF
Dates
study started
estimated completion
Principal Investigator
by Teresa Sparks (ucsf)Mary Norton, MD (ucsf)

Description

Summary

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.

Details

Up to 1:1700 pregnancies are affected by non-immune hydrops fetalis (NIHF), and this condition is associated with significant perinatal risks ranging from preterm birth to Ballantyne (maternal mirror) syndrome, stillbirth, and neonatal death. Birth defects affect 1:33 pregnancies, and are the leading cause of infant death (contributing to approximately 20% of infant deaths). 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. This study is open for enrollment by invitation. In addition to performing ES, the investigators are collecting clinical data prospectively on all cases of NIHF and other birth defects, including demographics, medical and obstetric history, prenatal and delivery course, and postnatal outcomes. The specific research aims include: 1. Create registry of clinical data for cases of NIHF and other birth defects. 2. Investigate genetic variants underlying NIHF and other birth defects via ES. 3. Characterize the features and outcomes of genetic diseases presenting with NIHF and other birth defects. - In particular, the researchers are focused on enrolling cases of increased nuchal translucency, cystic hygroma, abnormal fetal fluid collection (even single fluid compartments such as isolated pleural effusion), and/or frank NIHF. This research will contribute novel information about the frequency and types of genetic disorders in fetuses and newborns with a diagnosis of NIHF and other birth defects, enabling providers to more accurately counsel about prognosis and individualize perinatal care. This information will also facilitate informed decision-making for parents, allow the care team to anticipate specific perinatal needs, and enable more precise counseling for the parents about recurrence risks for NIHF and other birth defects. Further, the research will facilitate future aims such as novel fetal therapies for genetic diseases.

Keywords

Hydrops Fetalis Birth Defect Fetal Anomaly exome sequencing Congenital Abnormalities Edema

Eligibility

You can join if…

Open to people ages 18-55

  • 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 CAN'T join 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).

Location

  • University of California, San Francisco
    San Francisco California 94143 United States

Lead Scientists at University of California Health

  • Teresa Sparks (ucsf)
  • Mary Norton, MD (ucsf)
    Professor, Ob/Gyn, Reproductive Sciences. Authored (or co-authored) 216 research publications.

Details

Status
accepting new patients by invitation only
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Francisco
ID
NCT03412760
Study Type
Interventional
Last Updated