New genetic sleuthing could solve mysterious fetal swelling cases
NCT ID NCT03911531
First seen Jun 26, 2026 · Last updated Jul 15, 2026 · Updated 2 times
Summary
This study tests whether whole exome and whole genome sequencing can uncover genetic causes of nonimmune fetal hydrops—a serious condition where fluid builds up in a fetus—when standard tests find nothing. Researchers will analyze DNA from 55 affected fetuses or newborns and their parents. The goal is to improve diagnosis and help families understand risks for future pregnancies.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could help identify hidden genetic causes of fetal hydrops, improving diagnosis and family counseling for future pregnancies.
- What could go wrong
- This is a small, early-stage study (55 participants) focused on diagnosis, not treatment. It may not find new causes in all cases, and results may not apply to broader populations.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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55 people
The number who actually took part.
- Started
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Jan 2019
- Finished
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Dec 2025
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Patients will be recruited from MFM physicians, paediatricians,and neonatologists.
- Ages
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16 to 55 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Thomas Jefferson University
Philadelphia, Pennsylvania, 19107, United States
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Other studies related to the condition(s) this trial covers.