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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

An ongoing problem: Rhesus hemolytic disease of the newborn - A decade of experience in a single centre.
Yilmaz Yegit C, Yasa B, Ince EZ, Sarac Sivrikoz T, Coban A
Pediatr Neonatol 2024 Sep;65(5):482-486. Epub 2024 Mar 7 doi: 10.1016/j.pedneo.2024.02.004. PMID: 38490905
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
Intrauterine supraventricular tachycardia.
Valerius NH, Jacobsen JR
Acta Obstet Gynecol Scand 1978;57(5):407-10. doi: 10.3109/00016347809156520. PMID: 726873

Diagnosis

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
The prenatal diagnosis of a rare circular shunt with absent pulmonary valve syndrome.
Inamura N, Takada N, Marutani S
J Clin Ultrasound 2022 Jan;50(1):86-89. Epub 2021 Jun 16 doi: 10.1002/jcu.23031. PMID: 34137049
Second trimester fetal death caused by varicella-zoster virus infection.
Tanimura K, Kojima N, Yamazaki T, Semba S, Yokozaki H, Yamada H
J Med Virol 2013 May;85(5):935-8. Epub 2013 Jan 30 doi: 10.1002/jmv.23531. PMID: 23364880
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

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
Thoracoscopic treatment of a neonatal traumatic pneumatocele.
Jackson CC, Bettolli M, De Carli C, Rubin S, Sweeney B
J Laparoendosc Adv Surg Tech A 2008 Feb;18(1):170-3. doi: 10.1089/lap.2007.0137. PMID: 18266598
Direct intrauterine fetal treatment of fetal tachyarrhythmia with severe hydrops fetalis by antiarrhythmic drugs.
Gembruch U, Hansmann M, Bald R
Fetal Ther 1988;3(4):210-5. doi: 10.1159/000263358. PMID: 3152584
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
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
Transient abnormal myelopoiesis associated with Down syndrome presenting as severe hydrops fetalis: a case report.
Malin GL, Kilby MD, Velangi M
Fetal Diagn Ther 2010;27(3):171-3. Epub 2010 Feb 16 doi: 10.1159/000284928. PMID: 20160425
Jumping translocation in a newborn boy with dup(4q) and severe hydrops fetalis.
Duval E, van den Enden A, Vanhaesebrouck P, Speleman F
Am J Med Genet 1994 Aug 15;52(2):214-7. doi: 10.1002/ajmg.1320520217. PMID: 7802011
An unusual case of rhesus isoimmunization.
Younis J, Ohel G, Sadovsky E
Aust N Z J Obstet Gynaecol 1986 Nov;26(4):313-6. doi: 10.1111/j.1479-828x.1986.tb01598.x. PMID: 3103600

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
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
Ultrasound-guided fetal intravascular transfusion in severe rhesus immunization.
Seeds JW, Bowes WA Jr
Am J Obstet Gynecol 1986 May;154(5):1105-7. doi: 10.1016/0002-9378(86)90764-7. PMID: 3085503

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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