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ORPHA:1041

Hydrops fetalis

low confidenceDisorder

Also known as: Fetal anasarca · Fetal hydrops · Generalized fetal edema · HF

Publications

10,588

Trials

6

Interventional, condition-specific

Researchers

1,218

Distinct authors in sample

Gene link

CELSR1, FZD6, MYBBP1A

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (8)

fetal anasarca · fetal hydrops · foetal anasarca · foetal hydrops · generalised foetal oedema · generalized fetal edema · hydrops fetalis · hydrops fetalis (disease)

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — CELSR1, FZD6, MYBBP1A, SERPINA11

  2. LiteraturePresent

    10,588 matched papers (4,968 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    6 matched on ClinicalTrials.gov (2 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (CELSR1, FZD6, MYBBP1A…).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

10,588

10,588 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

10,588 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

4,968 in the last 10 years · low confidence

Phrase hits: 10,588 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,218

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.

  1. 01
    Zhang Y5 papers · 2026

    Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, 1838 Guangzhou Avenue North, Guangzhou, 510515, China.

    Papers in Europe PMC
  2. 02
    Wang Y4 papers · 2026

    Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, China.

    Papers in Europe PMC
  3. 03
    Yang Y4 papers · 2026

    Department of Molecular Genetic Center, Zhangzhou Municipal Hospital Affiliated to Fujian Medical University, Zhangzhou, China.

    Papers in Europe PMC
  4. 04
    Al-Kouatly HB3 papers · 2026

    Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA. huda.al-kouatly@jefferson.edu.

    Papers in Europe PMC
  5. 05
    Chen CP3 papers · 2026

    Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical & Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com.

    Papers in Europe PMC
  6. 06
    Chen X3 papers · 2026

    State Key Laboratory of Membrane Biology, New Cornerstone Science Laboratory, Tsinghua-Peking Center for Life Sciences, Beijing Frontier Research Center of Biological Structure, IDG/McGovern Institute for Brain Research, School of Pharmaceutical Sciences, Tsinghua University, Beijing 100084, China.

    Papers in Europe PMC
  7. 07
    Devlieger R3 papers · 2026

    Division of Fetal Medicine, Department of Obstetrics and Gynecology, UZ Leuven, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  8. 08
    Haak MC3 papers · 2026

    Department of Obstetrics, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  9. 09
    Jatavan P3 papers · 2026

    Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.

    Papers in Europe PMC
  10. 10
    Tongsong T3 papers · 2026

    Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

low confidence · 89th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

5 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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 on the overview but are not added to the query string.

"Hydrops fetalis" OR "Fetal anasarca" OR "Fetal hydrops" OR "Generalized fetal edema" OR "foetal anasarca" OR "foetal hydrops" OR "generalised foetal oedema" OR "hydrops fetalis (disease)"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hydrops fetalis" OR "Fetal anasarca" OR "Fetal hydrops" OR "Generalized fetal edema" OR "foetal anasarca" OR "foetal hydrops" OR "generalised foetal oedema" OR "hydrops fetalis (disease)" OR "CELSR1" OR "FZD6" OR "MYBBP1A" OR "SERPINA11"

Recall-expansion terms: CELSR1, FZD6, MYBBP1A, SERPINA11

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: 6 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HF

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 (10588) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T16:15:42.267Z