Summary

for people ages up to 55 years (full criteria)
at San Francisco, California
study started
estimated completion:
Teresa Sparks Mary Norton

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 40-50% 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 will perform 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 will perform 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.

The centers involved in this prospective cohort study are all a part of the University of California Fetal-Maternal Consortium (UCfC), which 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 performing trio whole exome sequencing (WES), the investigators will also collect 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 etiologies 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 by i) understanding not only the type of disease process, but also the implications of a particular genotype, and ii) improving the ability to predict prognosis, counsel patients, and tailor antenatal and postnatal management.

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. The NIH has recognized the importance of such a precision-based approach to medical care.

Keywords

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

Eligibility

You can join if…

Open to people ages up to 55 years

  • 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 not yet accepting patients
    San Francisco California 94143 United States

Details

Status
not yet accepting patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Francisco
ID
NCT03412760
Lead Scientists
Teresa Sparks
Mary Norton
Study Type
Interventional
Last Updated
January 20, 2018