Summary

for people ages 18-55 (full criteria)
at San Francisco, California
study started
estimated completion
Teresa Sparks, MDMary Norton, MD

Description

Summary

This is a multi-center, prospective study designed to investigate the genetic etiologies of non-immune hydrops fetalis (NIHF) and other birth defects. In the setting of NIHF, up to 46% of prenatally diagnosed 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 whole exome sequencing (WES) for the fetus or neonate, as well as both biological parents, in each of these cases to investigate the underlying genetic etiology.

Details

Between 1:1700 and 1:3000 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 whole exome sequencing (WES) for the fetus or neonate, as well as both biological parents, in each of these cases to investigate the underlying genetic etiology.

This study is open for enrollment. Established collaborating sites include all five sites of the University of California Fetal-Maternal Consortium (UCfC). The UCfC is a collaborative network of investigators with representatives from five UC medical centers (UC Davis, UC Irvine, UC Los Angeles, UC San Diego, UC San Francisco). In addition to recruiting through these five centers, the investigators are also recruiting nationally in order to develop a diverse cohort of NIHF cases and other birth defects.

In addition to performing trio whole exome sequencing (WES), 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 until the infant is discharged from the hospital.

The specific research aims include:

  1. Create a multi-center registry to collect clinical data for cases of non-immune hydrops fetalis (NIHF) and other birth defects.
  2. Investigate the genetic variants underlying NIHF and other birth defects via whole exome sequencing (WES).
  3. Develop a precision-based approach to antenatal and neonatal care in cases of NIHF and other birth defects.

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, examining genotype-phenotype correlations will facilitate a precision-based approach to again individualize counseling and also enable targeted neonatal (and in the future, antenatal) therapies such as enzyme replacement and stem cell transplantation.

Keywords

Hydrops Fetalis Birth Defect Fetal Anomaly whole exome sequencing Congenital Abnormalities Edema Trio whole exome sequencing

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 accepting new patients
    San Francisco California 94143 United States

Lead Scientists

  • Teresa Sparks, MD
    I am an obstetrician specializing in Maternal-Fetal Medicine and Clinical Genetics. In my practice, I care for women who are either pregnant or considering pregnancy, including those with pregnancies that are higher risk for a variety of reasons. Teaching and mentoring are activities that I take very seriously, and see as an essential part of my very day job.
  • Mary Norton, MD
    Professor, Ob/Gyn, Reproductive Sciences. Authored (or co-authored) 172 research publications

Details

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