Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops
Recruiting
Observational Study
Nonimmune Fetal Hydrops
Nonimmune Hydrops in Neonate
Genetic Disorders
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 16 – 55
- Sex
- Any
- Study type
- Observational
- Participants needed
- 55 (estimated)
- Sponsor
- Thomas Jefferson University · Other
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About This Trial
Brief Summary: Nonimmune hydrops fetalis (NIHF) is a potentially fatal condition characterized by abnormal fluid accumulation in two or more fetal compartments. Numerous etiologies may lead to NIHF, and the underlying cause often remains unclear (1). The current standard of genetic diagnostic testing includes a fetal karyotype and chromosomal microarray (CMA), with an option to pursue single gene …
Trial Locations
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Eligibility 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…
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