Hydrops Research Study
For many pregnancies with hydrops, the cause is unknown. Comprehensive genetic testing may help expecting parents find answers.
The Johns Hopkins Prenatal Genetic Counseling team, along with our Maternal-Fetal Medicine specialists, are partnering with researchers at the University of California, San Francisco (UCSF) to study and better understand the genetic causes of non-immune hydrops fetalis in pregnancy.
FAQAdditional Information
Learn more about our study and how to participate.
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Hydrops is a condition in pregnancy marked by abnormal collections of fluid (sometimes called “effusions”) in the developing fetus. There are two types of hydrops:
- Immune hydrops results from blood-type incompatibility between the pregnant person and the fetus.
- Non-immune hydrops fetalis (NIHF) results from many types of genetic conditions, as well as other causes, such as viral infections.
Hydrops is typically characterized by fluid accumulations in multiple compartments. These compartments may include:
- Pericardial effusion — fluid accumulation around the fetal heart
- Pleural effusion — fluid accumulation around the fetal lung(s)
- Increased nuchal translucency (NT) or cystic hygroma — increased fluid at the back of the neck
- Skin edema — fluid accumulation under the skin
- Ascites — fluid accumulation in the abdomen
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Pregnancies diagnosed with abnormal fluid accumulations by ultrasound may be eligible to enroll. Pregnancies can be ongoing or concluded. Formal eligibility criteria are outlined below. A member of the study team can help determine eligibility.
Eligibility Criteria
One or more of the following findings on prenatal ultrasound:
- Non-immune hydrops
- Any single fetal effusion: ascites, skin edema, pleural effusion, pericardial effusion
- Isolated increased nuchal translucency (NT) or cystic hygroma measuring greater than or equal to 5 mm
- Increased NT or cystic hygroma measuring greater than or equal to 3.5 mm AND another fetal anomaly or effusion
AND:
- A diagnostic procedure, such as chorionic villus sampling (CVS) or amniocentesis, with non-explanatory results from karyotype or microarray
- No clear concern for a viral or infectious cause
- No clear concern for a placental cause (i.e., chorioangioma or abruption)
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“Stat” cases (including ongoing pregnancies) usually receive results in less than one month. Results for concluded pregnancies are usually available in two to three months.
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Eligible participants who choose to enroll will receive WGS at no cost.
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To learn more or refer a patient, please contact a member of the Johns Hopkins study team listed at the bottom of this page.
More resources:
- UCSF Clinical Trials page: https://clinicaltrials.ucsf.edu/trial/NCT05528796
- NIH Clinical Trials page: https://clinicaltrials.gov/study/NCT05528796
Our Team
Johns Hopkins Study Contacts
Kristen Miller, MGC, LCGC
Lead Site Genetic Counselor
Assistant Professor of Gyn/Ob
P: (410) 955-3091
F: (443) 287-2358
Email: [email protected]
Angie Child Jelin, M.D.
Site Principal Investigator (PI)
Associate Professor of Gyn/Ob
Associate Director, Prenatal Genetics
Email: [email protected]
UCSF Study Contacts
- Teresa Sparks, M.D., MAS (PI): [email protected]
- Billie Lianoglou, MS (Lead GC): [email protected]
- Katie Tick, MPH (Study Coordinator): [email protected]