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Immune hydrops fetalis

MedGen UID:
105328
•Concept ID:
C0455990
•
Disease or Syndrome
Synonyms: Hydrops Fetalis, Immune; Immune Hydrops Fetalis
SNOMED CT: Immune hydrops fetalis (15539009); Hydrops fetalis due to isoimmunization (15539009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018221
Orphanet: ORPHA364013

Definition

Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmune hydrops fetalis

Professional guidelines

PubMed

Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis.
Al-Kouatly HB, Shivashankar K, Mossayebi MH, Makhamreh M, Critchlow E, Gao Z, Fasehun LK, Alkuraya FS, Ryan EE, Hegde M, Wodoslawsky S, Hughes J, Berger SI
Clin Genet 2023 May;103(5):503-512. Epub 2023 Feb 26 doi: 10.1111/cge.14309. PMID: 36757664
No. 363-Investigation and Management of Non-immune Fetal Hydrops.
Désilets V, De Bie I, Audibert F
J Obstet Gynaecol Can 2018 Aug;40(8):1077-1090. doi: 10.1016/j.jogc.2017.12.011. PMID: 30103882
Prenatal diagnosis of non-immune hydrops fetalis: what do we tell the parents?
Santo S, Mansour S, Thilaganathan B, Homfray T, Papageorghiou A, Calvert S, Bhide A
Prenat Diagn 2011 Feb;31(2):186-95. Epub 2011 Jan 4 doi: 10.1002/pd.2677. PMID: 21268039

Recent clinical studies

Etiology

The Cardiovascular Profile Score in Patients with Non-immune Hydrops Fetalis and Cardiac Anomalies - a Pilot Study.
Dionysopoulou A, Pirih E, Macchiella D, Fruth A, Jahn-Eimermacher A, Kampmann C, Mildenberger E, Whybra C
Reprod Sci 2023 Sep;30(9):2805-2812. Epub 2023 Mar 29 doi: 10.1007/s43032-023-01216-w. PMID: 36988903Free PMC Article
Isolated non-immune hydrops fetalis: an observational study on complete spontaneous resolution, perinatal outcome, and long-term follow-up.
Neveling S, Knippel AJ, Kozlowski P
Arch Gynecol Obstet 2023 Aug;308(2):487-497. Epub 2022 Aug 22 doi: 10.1007/s00404-022-06731-w. PMID: 35994111Free PMC Article
Non-Immune Hydrops Fetalis: Do Placentomegaly and Polyhydramnios Matter?
Berger VK, Sparks TN, Jelin AC, Derderian C, Jeanty C, Gosnell K, Mackenzie T, Gonzalez JM
J Ultrasound Med 2018 May;37(5):1185-1191. Epub 2017 Oct 27 doi: 10.1002/jum.14462. PMID: 29076544Free PMC Article
Etiology of non-immune hydrops fetalis: An update.
Bellini C, Donarini G, Paladini D, Calevo MG, Bellini T, Ramenghi LA, Hennekam RC
Am J Med Genet A 2015 May;167A(5):1082-8. Epub 2015 Feb 25 doi: 10.1002/ajmg.a.36988. PMID: 25712632
Prenatal diagnosis of non-immune hydrops fetalis: what do we tell the parents?
Santo S, Mansour S, Thilaganathan B, Homfray T, Papageorghiou A, Calvert S, Bhide A
Prenat Diagn 2011 Feb;31(2):186-95. Epub 2011 Jan 4 doi: 10.1002/pd.2677. PMID: 21268039

Diagnosis

Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.
Coccia E, Valeri L, Zuntini R, Caraffi SG, Peluso F, Pagliai L, Vezzani A, Pietrangiolillo Z, Leo F, Melli N, Fiorini V, Greco A, Lepri FR, Pisaneschi E, Marozza A, Carli D, Mussa A, Radio FC, Conti B, Iascone M, Gargano G, Novelli A, Tartaglia M, Zuffardi O, Bedeschi MF, Garavelli L
Genes (Basel) 2023 Feb 22;14(3) doi: 10.3390/genes14030549. PMID: 36980822Free PMC Article
Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis.
Al-Kouatly HB, Shivashankar K, Mossayebi MH, Makhamreh M, Critchlow E, Gao Z, Fasehun LK, Alkuraya FS, Ryan EE, Hegde M, Wodoslawsky S, Hughes J, Berger SI
Clin Genet 2023 May;103(5):503-512. Epub 2023 Feb 26 doi: 10.1111/cge.14309. PMID: 36757664
Non-immune hydrops fetalis.
Okeke TC, Egbugara MN, Ezenyeaku CC, Ikeako LC
Niger J Med 2013 Oct-Dec;22(4):266-73. PMID: 24283082
Lysosomal disorders.
Wraith JE
Semin Neonatol 2002 Feb;7(1):75-83. doi: 10.1053/siny.2001.0088. PMID: 12069540
Non-immune hydrops fetalis.
Li CY, Lao TT
Asia Oceania J Obstet Gynaecol 1990 Sep;16(3):191-9. doi: 10.1111/j.1447-0756.1990.tb00225.x. PMID: 2088241

Therapy

No. 363-Investigation and Management of Non-immune Fetal Hydrops.
Désilets V, De Bie I, Audibert F
J Obstet Gynaecol Can 2018 Aug;40(8):1077-1090. doi: 10.1016/j.jogc.2017.12.011. PMID: 30103882
Percutaneous umbilical blood sampling: current trends and outcomes.
Bigelow CA, Cinelli CM, Little SE, Benson CB, Frates MC, Wilkins-Haug LE
Eur J Obstet Gynecol Reprod Biol 2016 May;200:98-101. Epub 2016 Mar 5 doi: 10.1016/j.ejogrb.2016.02.038. PMID: 27014852
Non-immune hydrops fetalis caused by herpes simplex virus type 2 in the setting of recurrent maternal infection.
Pfister KM, Schleiss MR, Reed RC, George TN
J Perinatol 2013 Oct;33(10):817-20. doi: 10.1038/jp.2013.68. PMID: 24071962
Outcome of non-immune hydrops fetalis and a fetus with hydrothorax and/or ascites: with some trials of intrauterine treatment.
Negishi H, Yamada H, Okuyama K, Sagawa T, Makinoda S, Fujimoto S
J Perinat Med 1997;25(1):71-7. doi: 10.1515/jpme.1997.25.1.71. PMID: 9085206
Intrauterine treatment on non-immune hydrops fetalis.
Maeda H, Koyanagi T, Nakano H
Early Hum Dev 1992 Jun-Jul;29(1-3):241-9. doi: 10.1016/0378-3782(92)90160-i. PMID: 1396247

Prognosis

Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center.
Guo D, He S, Lin N, Dai Y, Li Y, Xu L, Wu X
BMC Med Genomics 2023 Apr 20;16(1):83. doi: 10.1186/s12920-023-01505-y. PMID: 37081464Free PMC Article
A system-based approach to the genetic etiologies of non-immune hydrops fetalis.
Mardy AH, Chetty SP, Norton ME, Sparks TN
Prenat Diagn 2019 Aug;39(9):732-750. Epub 2019 Jun 26 doi: 10.1002/pd.5479. PMID: 31087399Free PMC Article
Non-Immune Hydrops Fetalis: Do Placentomegaly and Polyhydramnios Matter?
Berger VK, Sparks TN, Jelin AC, Derderian C, Jeanty C, Gosnell K, Mackenzie T, Gonzalez JM
J Ultrasound Med 2018 May;37(5):1185-1191. Epub 2017 Oct 27 doi: 10.1002/jum.14462. PMID: 29076544Free PMC Article
Non-immune hydrops fetalis.
Okeke TC, Egbugara MN, Ezenyeaku CC, Ikeako LC
Niger J Med 2013 Oct-Dec;22(4):266-73. PMID: 24283082
Lysosomal disorders.
Wraith JE
Semin Neonatol 2002 Feb;7(1):75-83. doi: 10.1053/siny.2001.0088. PMID: 12069540

Clinical prediction guides

Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center.
Guo D, He S, Lin N, Dai Y, Li Y, Xu L, Wu X
BMC Med Genomics 2023 Apr 20;16(1):83. doi: 10.1186/s12920-023-01505-y. PMID: 37081464Free PMC Article
Isolated non-immune hydrops fetalis: an observational study on complete spontaneous resolution, perinatal outcome, and long-term follow-up.
Neveling S, Knippel AJ, Kozlowski P
Arch Gynecol Obstet 2023 Aug;308(2):487-497. Epub 2022 Aug 22 doi: 10.1007/s00404-022-06731-w. PMID: 35994111Free PMC Article
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Giugliani R, Barth AL, Dumas MRC, da Silva Franco JF, de Rosso Giuliani L, Grangeiro CHP, Horovitz DDG, Kim CA, de Araújo Leão EKE, de Medeiros PFV, Miguel DSCG, Moreira MESA, Dos Santos HMGP, da Silva LCS, da Silva LR, de Souza IN, Nalin T, Garcia D
Orphanet J Rare Dis 2021 May 22;16(1):238. doi: 10.1186/s13023-021-01870-w. PMID: 34022924Free PMC Article
No. 363-Investigation and Management of Non-immune Fetal Hydrops.
Désilets V, De Bie I, Audibert F
J Obstet Gynaecol Can 2018 Aug;40(8):1077-1090. doi: 10.1016/j.jogc.2017.12.011. PMID: 30103882
Non-Immune Hydrops Fetalis: Do Placentomegaly and Polyhydramnios Matter?
Berger VK, Sparks TN, Jelin AC, Derderian C, Jeanty C, Gosnell K, Mackenzie T, Gonzalez JM
J Ultrasound Med 2018 May;37(5):1185-1191. Epub 2017 Oct 27 doi: 10.1002/jum.14462. PMID: 29076544Free PMC Article

Recent systematic reviews

PIEZO1 is the most common monogenic etiology of non-immune hydrops fetalis detected by prenatal exome sequencing.
Brewer CJ, Makhamreh MM, Shivashankar K, McLaren R, Toro M, Berger SI, Al-Kouatly HB
Prenat Diagn 2023 Nov;43(12):1556-1566. Epub 2023 Oct 30 doi: 10.1002/pd.6451. PMID: 37902181
Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis.
Al-Kouatly HB, Shivashankar K, Mossayebi MH, Makhamreh M, Critchlow E, Gao Z, Fasehun LK, Alkuraya FS, Ryan EE, Hegde M, Wodoslawsky S, Hughes J, Berger SI
Clin Genet 2023 May;103(5):503-512. Epub 2023 Feb 26 doi: 10.1111/cge.14309. PMID: 36757664
Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.
Mone F, Eberhardt RY, Hurles ME, Mcmullan DJ, Maher ER, Lord J, Chitty LS, Dempsey E, Homfray T, Giordano JL, Wapner RJ, Sun L, Sparks TN, Norton ME, Kilby MD
Ultrasound Obstet Gynecol 2021 Oct;58(4):509-518. doi: 10.1002/uog.23652. PMID: 33847422Free PMC Article

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