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Severe hydrops fetalis

MedGen UID:
356435
•Concept ID:
C1866048
•
Disease or Syndrome; Finding
Synonyms: Hydrops fetalis, severe; Severe hydrops

Professional guidelines

PubMed

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW
Haematologica 2018 Jun;103(6):949-958. Epub 2018 Mar 29 doi: 10.3324/haematol.2017.177980. PMID: 29599205Free PMC Article
Management and prevention of red cell alloimmunization in pregnancy: a systematic review.
Moise KJ Jr, Argoti PS
Obstet Gynecol 2012 Nov;120(5):1132-9. doi: 10.1097/aog.0b013e31826d7dc1. PMID: 23090532
High-dose gammaglobulin (IVIG) followed by intrauterine transfusions (IUTs): a new alternative for the treatment of severe fetal hemolytic disease.
Voto LS, Mathet ER, Zapaterio JL, Orti J, Lede RL, Margulies M
J Perinat Med 1997;25(1):85-8. doi: 10.1515/jpme.1997.25.1.85. PMID: 9085208

Recent clinical studies

Etiology

A retrospective clinical analysis of 20 cases of congenital lung masses.
Gilad N, Furman Y, Weissmann-Brenner A
J Matern Fetal Neonatal Med 2022 Oct;35(19):3640-3645. Epub 2020 Oct 27 doi: 10.1080/14767058.2020.1836149. PMID: 33108914
Management and prevention of red cell alloimmunization in pregnancy: a systematic review.
Moise KJ Jr, Argoti PS
Obstet Gynecol 2012 Nov;120(5):1132-9. doi: 10.1097/aog.0b013e31826d7dc1. PMID: 23090532
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
Grünewald S
Biochim Biophys Acta 2009 Sep;1792(9):827-34. Epub 2009 Jan 14 doi: 10.1016/j.bbadis.2009.01.003. PMID: 19272306
Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus.
MacDermot KD, Buckley B, Van Someren V
Clin Genet 1995 Oct;48(4):217-20. doi: 10.1111/j.1399-0004.1995.tb04092.x. PMID: 8591675
Intrauterine supraventricular tachycardia.
Valerius NH, Jacobsen JR
Acta Obstet Gynecol Scand 1978;57(5):407-10. doi: 10.3109/00016347809156520. PMID: 726873

Diagnosis

A retrospective clinical analysis of 20 cases of congenital lung masses.
Gilad N, Furman Y, Weissmann-Brenner A
J Matern Fetal Neonatal Med 2022 Oct;35(19):3640-3645. Epub 2020 Oct 27 doi: 10.1080/14767058.2020.1836149. PMID: 33108914
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW
Haematologica 2018 Jun;103(6):949-958. Epub 2018 Mar 29 doi: 10.3324/haematol.2017.177980. PMID: 29599205Free PMC Article
Management and prevention of red cell alloimmunization in pregnancy: a systematic review.
Moise KJ Jr, Argoti PS
Obstet Gynecol 2012 Nov;120(5):1132-9. doi: 10.1097/aog.0b013e31826d7dc1. PMID: 23090532
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
Grünewald S
Biochim Biophys Acta 2009 Sep;1792(9):827-34. Epub 2009 Jan 14 doi: 10.1016/j.bbadis.2009.01.003. PMID: 19272306
Intrauterine supraventricular tachycardia.
Valerius NH, Jacobsen JR
Acta Obstet Gynecol Scand 1978;57(5):407-10. doi: 10.3109/00016347809156520. PMID: 726873

Therapy

Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature.
Kreger EM, Singer ST, Witt RG, Sweeters N, Lianoglou B, Lal A, Mackenzie TC, Vichinsky E
Prenat Diagn 2016 Dec;36(13):1242-1249. Epub 2016 Dec 7 doi: 10.1002/pd.4966. PMID: 27862048
Management and prevention of red cell alloimmunization in pregnancy: a systematic review.
Moise KJ Jr, Argoti PS
Obstet Gynecol 2012 Nov;120(5):1132-9. doi: 10.1097/aog.0b013e31826d7dc1. PMID: 23090532
Fetal supraventricular tachycardia and hydrops fetalis: combined intensive, direct, and transplacental therapy.
Hallak M, Neerhof MG, Perry R, Nazir M, Huhta JC
Obstet Gynecol 1991 Sep;78(3 Pt 2):523-5. PMID: 1870815
Insufficient transplacental digoxin transfer in severe hydrops fetalis.
Younis JS, Granat M
Am J Obstet Gynecol 1987 Nov;157(5):1268-9. doi: 10.1016/s0002-9378(87)80309-5. PMID: 3688087
Intrauterine supraventricular tachycardia.
Valerius NH, Jacobsen JR
Acta Obstet Gynecol Scand 1978;57(5):407-10. doi: 10.3109/00016347809156520. PMID: 726873

Prognosis

Functional analysis of a novel splice site variant in the ASAH1 gene.
Yan S, Fu F, Zhou H, Huang R, Wang Y, Liao C
Mol Genet Genomic Med 2024 Jan;12(1):e2317. Epub 2023 Nov 14 doi: 10.1002/mgg3.2317. PMID: 37962265Free PMC Article
A retrospective clinical analysis of 20 cases of congenital lung masses.
Gilad N, Furman Y, Weissmann-Brenner A
J Matern Fetal Neonatal Med 2022 Oct;35(19):3640-3645. Epub 2020 Oct 27 doi: 10.1080/14767058.2020.1836149. PMID: 33108914
Case report of neonatal ductus venosus atresia.
Baller SE, Reinehr M, Haslinger C, Restin T, Fauchère JC
J Neonatal Perinatal Med 2021;14(2):307-312. doi: 10.3233/NPM-190398. PMID: 32925113
Prenatal sonographic features of fetal mediastinal teratoma.
Srisupundit K, Sukpan K, Tongsong T, Traisrisilp K
J Clin Ultrasound 2020 Sep;48(7):419-422. Epub 2020 Jun 7 doi: 10.1002/jcu.22876. PMID: 32506587
Acardiac twin fetus with severe hydrops fetalis and bilateral talipes varus deformity.
Thelmo ML, Fok RY, Shertukde SP
Fetal Pediatr Pathol 2007 Sep-Dec;26(5-6):235-42. doi: 10.1080/15513810701863730. PMID: 18363156

Clinical prediction guides

Functional analysis of a novel splice site variant in the ASAH1 gene.
Yan S, Fu F, Zhou H, Huang R, Wang Y, Liao C
Mol Genet Genomic Med 2024 Jan;12(1):e2317. Epub 2023 Nov 14 doi: 10.1002/mgg3.2317. PMID: 37962265Free PMC Article
A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.
Abdelrahman HA, Al-Shamsi A, John A, Hertecant J, Lootah A, Ali BR, Al-Gazali L
Am J Med Genet A 2018 Sep;176(9):1996-2003. Epub 2018 Jul 28 doi: 10.1002/ajmg.a.40424. PMID: 30055085
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW
Haematologica 2018 Jun;103(6):949-958. Epub 2018 Mar 29 doi: 10.3324/haematol.2017.177980. PMID: 29599205Free PMC Article
Fetal morbidity and mortality after acute human parvovirus B19 infection in pregnancy: prospective evaluation of 1018 cases.
Enders M, Weidner A, Zoellner I, Searle K, Enders G
Prenat Diagn 2004 Jul;24(7):513-8. doi: 10.1002/pd.940. PMID: 15300741
Hydrops fetalis and fibrosarcoma: case report of an uncommon association.
Navajas A, Astigarraga I, Fernández-Teijeiro A, Lopez-Heredia J, Biritxinaga B, Camarero C
Eur J Pediatr 1997 Jan;156(1):62-4. doi: 10.1007/s004310050554. PMID: 9007494

Recent systematic reviews

Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature.
Kreger EM, Singer ST, Witt RG, Sweeters N, Lianoglou B, Lal A, Mackenzie TC, Vichinsky E
Prenat Diagn 2016 Dec;36(13):1242-1249. Epub 2016 Dec 7 doi: 10.1002/pd.4966. PMID: 27862048
Management and prevention of red cell alloimmunization in pregnancy: a systematic review.
Moise KJ Jr, Argoti PS
Obstet Gynecol 2012 Nov;120(5):1132-9. doi: 10.1097/aog.0b013e31826d7dc1. PMID: 23090532

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