Genetic testing for nonimmune fetal and neonatal hydrops
Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops
This study is testing if advanced genetic testing can help families understand the causes of nonimmune fetal hydrops in their babies and improve care options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 55 (estimated) |
| Ages | 16 Years to 55 Years |
| Sex | All |
| Sponsor | Thomas Jefferson University Academic / other |
| Locations | 1 site (Philadelphia, Pennsylvania) |
| Trial ID | NCT03911531 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on nonimmune fetal hydrops, a serious condition characterized by fluid accumulation in fetuses or neonates. It aims to enhance diagnostic accuracy by utilizing whole exome sequencing (WES) and whole genome sequencing (WGS) on samples collected from affected families. The study will involve a cohort of mother-father-fetus trios, where genetic counseling and routine amniocentesis will be performed as part of the standard care. The results from WES and WGS will be communicated to the families and their healthcare providers to guide further management.
Who should consider this trial
Good fit: Ideal candidates include pregnant individuals with a diagnosis of nonimmune fetal hydrops who are planning to undergo amniocentesis.
Not a fit: Patients whose hydrops is caused by congenital infections or other documented etiologies may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could significantly improve the identification of genetic causes of nonimmune fetal and neonatal hydrops, leading to better management and outcomes for affected families.
How similar studies have performed: While the approach of using WES and WGS is becoming more common, the specific application to nonimmune fetal hydrops is relatively novel and has not been extensively tested in prior studies.
Eligibility criteria
Show full inclusion / exclusion criteria
The following inclusion criteria will apply: 1. Fetal hydrops identified anytime in pregnancy after the first trimester 2. Parents are planning to proceed with amniocentesis as a routine workup for hydrops. 3. Both parents are available for blood sample collection 4. Normal CMA and normal karyotype if performed 5. Negative workup for Parvovirus B19, cytomegalovirus, toxoplasmosis, and syphilis 6. Negative fetomaternal hemorrhage workup as a cause for hydrops For cases of neonatal hydrops, the criteria for invasive prenatal testing will not be required as a postnatal blood sample from the hydropic infant will be the source of proband DNA. The following exclusion criteria will apply: 1. Microarray was abnormal or karyotype was abnormal 2. Hydrops caused by congenital infection 3. Fetomaternal hemorrhage was a documented etiology for hydrops 4. Parental DNA cannot be obtained for either parents 5. Donor egg or donor sperm were utilized for conception 6. Fetus/Infant diagnosed with lysosomal storage disease 7. Pregnant woman or father of the baby less than 16 years of age 8. Hydrops was diagnosed concomitantly with intrauterine fetal demise
Where this trial is running
Philadelphia, Pennsylvania
- Thomas Jefferson University — Philadelphia, Pennsylvania, United States (Recruiting)
Study contacts
- Principal investigator: Huda B Al-Kouatly, MD — Thomas Jefferson University
- Study coordinator: Huda B Al-Kouatly, MD
- Email: Huda.Al-kouatly@jefferson.edu
- Phone: 215-955-9200
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.