Actively Recruiting
Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops
Led by Thomas Jefferson University · Updated on 2025-09-11
55
Participants Needed
1
Research Sites
519 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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 testing on amniocytes collected by amniocentesis (2). A large subgroup of the NIHF causes includes single gene disorders that are not diagnosed with the standard genetic workup for hydrops. Currently, nearly 1 in 5 cases of NIHF is defined as idiopathic, meaning there is no identified etiology (2). The investigators believe this is because the causes of NIHF are not completely investigated, specifically single gene disorders. Our research study aims to increase the diagnostic yield by performing whole exome sequencing (WES) and whole genome sequencing (WGS) on prenatal and neonatal NIHF cases when standard genetic testing is negative, identifying known and new genes, thus providing vital information to families regarding the specific diagnosis and risk to future pregnancies. The investigators plan to perform WES as the initial diagnostic test. If WES is negative, then the investigators will proceed to perform WGS.
CONDITIONS
Official Title
Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Fetal hydrops identified anytime in pregnancy after the first trimester
- Parents planning to proceed with amniocentesis as part of routine hydrops workup
- Both parents available for blood sample collection
- Normal chromosomal microarray (CMA) and normal karyotype if performed
- Negative test results for Parvovirus B19, cytomegalovirus, toxoplasmosis, and syphilis
- Negative fetomaternal hemorrhage workup as cause for hydrops
- For neonatal hydrops, invasive prenatal testing criteria not required; postnatal blood sample from affected infant used for DNA
You will not qualify if you...
- Abnormal microarray or karyotype results
- Hydrops caused by congenital infection
- Documented fetomaternal hemorrhage as cause of hydrops
- Parental DNA not obtainable from either parent
- Use of donor egg or donor sperm for conception
- Diagnosis of lysosomal storage disease in fetus or infant
- Pregnant woman or baby's father younger than 16 years old
- Hydrops diagnosed at the same time as intrauterine fetal demise
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Thomas Jefferson University
Philadelphia, Pennsylvania, United States, 19107
Actively Recruiting
Research Team
H
Huda B Al-Kouatly, MD
CONTACT
S
Stephanie M Rice, MS
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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