ORPHA:363999
Non-immune hydrops fetalis
Also known as: Non-immune HF · Non-immune fetal edema · Non-immune fetal hydrops · NIHF
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
1,377
1,377 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
1,377 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
711 in the last 10 years · low confidence
Is a treatment being tested?
3
trials for this specific condition
3 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 2 trials are registered for hydrops fetalis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
2
trials for hydrops fetalis, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
3 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 79.4th percentile).
low confidence · 79.4th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (EHBP1L1, THSD1).
GenCC classification: Definitive.
Who's working on it?
1,288
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Al-Kouatly HB9 papers · 2026
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 02Yang Y6 papers · 2026
The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, 910 Hengshan Road, Shanghai, 200030, China.
Papers in Europe PMC - 03Berger SI5 papers · 2026
Center for Genetic Medicine Research and Rare Disease Institute, Children's National Medical Center, Washington, DC, USA.
Papers in Europe PMC - 04Critchlow E5 papers · 2024
Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 05Makhamreh MM5 papers · 2026
Department of Obstetrics and Gynecology, Maimonides Medical Center, Brooklyn, New York, USA.
Papers in Europe PMC - 06Sun L5 papers · 2026
Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
Papers in Europe PMC - 07Wang Y5 papers · 2026
The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, 910 Hengshan Road, Shanghai, 200030, China. wyanlin@163.com.
Papers in Europe PMC - 08Wodoslawsky S5 papers · 2024
Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 09Chen J4 papers · 2026
Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
Papers in Europe PMC - 10Shivashankar K4 papers · 2026
Department of Obstetrics and Gynecology, University of Illinois College of Medicine, Chicago, Illinois, USA.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Non-immune hydrops fetalis" OR "Non-immune HF" OR "Non-immune fetal edema" OR "Non-immune fetal hydrops" OR "non-immune foetal hydrops" OR "non-immune foetal oedema"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Non-immune hydrops fetalis" OR "Non-immune HF" OR "Non-immune fetal edema" OR "Non-immune fetal hydrops" OR "non-immune foetal hydrops" OR "non-immune foetal oedema" OR "EHBP1L1" OR "THSD1"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 3 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:236750 UMLS:C0455988 NCIT:C111905
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: NIHF
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1377) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity