Hydrops: Diagnosing & Redefining Outcomes With Precision Study (HyDROPS)
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|ClinicalTrials.gov Identifier: NCT03412760|
Recruitment Status : Enrolling by invitation
First Posted : January 26, 2018
Last Update Posted : January 10, 2023
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|Condition or disease||Intervention/treatment||Phase|
|Hydrops Fetalis Birth Defect Fetal Anomaly||Diagnostic Test: Exome sequencing||Not Applicable|
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:
- Create registry of clinical data for cases of NIHF and other birth defects.
- Investigate genetic variants underlying NIHF and other birth defects via ES.
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.
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||500 participants|
|Intervention Model:||Single Group Assignment|
|Intervention Model Description:||All cases of unexplained non-immune hydrops fetalis (NIHF) or other birth defects enrolled in the study will be offered exome sequencing (ES) for the affected fetus or neonate.|
|Masking:||None (Open Label)|
|Official Title:||Hydrops: Diagnosing & Redefining Outcomes With Precision Study|
|Actual Study Start Date :||October 11, 2018|
|Estimated Primary Completion Date :||November 2025|
|Estimated Study Completion Date :||December 2025|
Experimental: Exome sequencing
There is only one arm of this study. All enrolled participants with unexplained NIHF or other birth defect will be offered exome sequencing for the affected fetus or neonate. Please refer to the Study Design section for further details.
Diagnostic Test: Exome sequencing
Expansive genetic test performed for affected fetus or neonate.
- Genetic variants detected with exome sequencing that implicate a genetic disease underlying non-immune hydrops fetalis (NIHF) and other birth defects. [ Time Frame: Turn around time for exome sequencing results is 2-4 weeks for ongoing pregnancies and live infants, and is 8-12 weeks for stillbirths, terminations, and infant demises. ]Both NIHF and birth defects can be caused by a variety of genetic variants that researchers are continuing to learn more about. Exome sequencing will yield information about the specific genetic variants present in cases of NIHF and other birth defects, and about the specific diseases implicated by these variants. Investigators will determine the proportion of cases seen in the setting of particular genetic variants, and will correlate phenotypic outcomes with specific genotypes.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||18 Years to 55 Years (Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
- 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.
- Monochorionic twin pregnancies and cases of hydrops fetalis that are attributed to red cell alloimmunization (due to hydrops fetalis caused by different pathophysiologic processes).
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03412760
|United States, California|
|University of California, San Francisco|
|San Francisco, California, United States, 94143|
|Principal Investigator:||Teresa Sparks, MD, MAS||University of California, San Francisco|
|Principal Investigator:||Mary Norton, MD||University of California, San Francisco|
|Responsible Party:||University of California, San Francisco|
|Other Study ID Numbers:||
5K12HD001262 ( U.S. NIH Grant/Contract )
|First Posted:||January 26, 2018 Key Record Dates|
|Last Update Posted:||January 10, 2023|
|Last Verified:||January 2023|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||No|
|Plan Description:||De-identified data will be shared only in accordance with NIH/NICHD regulations as the Women's Reproductive Health Research (WRHR) grant is a funding source for this study, and is co-sponsored by these bodies.|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||Yes|
|Device Product Not Approved or Cleared by U.S. FDA:||Yes|
|Product Manufactured in and Exported from the U.S.:||No|
Female Urogenital Diseases and Pregnancy Complications
Genetic Diseases, Inborn
Immune System Diseases