Abstract
Hydrops fetalis (HF) is characterized by an accumulation of fluid in the extracellular compartments and in body cavities. Non-immune HF (NIHF) is caused by a wide variety of disorders and overall, 20-25% of NIHF remain unexplained. Inborn errors of metabolism, mostly lysosomal storage diseases have been estimated to account for 1-2% of cases, leading to HF by anemia or liver failure. Very few cases of NIHF and Congenital Disorder of Glycosylation (CDG) have been reported. We present here a case of recurrence of HF in a non-related couple in which the diagnosis of CDG type I was suspected at fetal pathological examination then confirmed at the enzymatic and molecular levels, as well as on a characteristic CDG I serum transferrin profile at 30weeks of gestation. We also provide a systematic review of reported cases with CDG type I and NIHF reported thus far. When NIHF remains unexplained despite exhaustive obstetrical screening, analysis of PMM activity in the parents' leucocytes is possible and might be performed easily during pregnancy. The accurate diagnosis is important in terms of counseling during pregnancy or later, in order to allow an early molecular prenatal diagnosis for the following pregnancies.
References
Jul 1, 1994·Pediatric Neurology·H Stibler, F Skovby
Oct 29, 1996·Clinica Chimica Acta; International Journal of Clinical Chemistry·N SetaG Durand
Dec 22, 1999·European Journal of Human Genetics : EJHG·S KjaergaardM Schwartz
Jun 15, 2000·European Journal of Human Genetics : EJHG·E SchollenG Matthijs
Jan 3, 2001·Journal of Medical Genetics·P de LonlayV Cormier-Daire
Feb 20, 2004·Prenatal Diagnosis·Gert MatthijsEmile Van Schaftingen
Aug 12, 2004·Prenatal Diagnosis·Maira G BurinRoberto Giugliani
Jan 13, 2005·European Journal of Pediatrics·Vera NoelleChristoph Vogtmann
Feb 17, 2005·Acta Neuropathologica·E AronicaJ M Rozemuller-Kwakkel
Apr 22, 2005·Human Mutation·Christiane Le BizecNathalie Seta
Jul 12, 2005·Pediatric Research·Jonas DeneckeThorsten Marquardt
Aug 15, 2006·American Journal of Medical Genetics. Part a·Małgorzata J M NowaczykJames D Douketis
Aug 18, 2006·Prenatal Diagnosis·Matthew EdwardsJanice Fletcher
Nov 11, 2006·The Journal of Pediatrics·Vassili ValayannopoulosJean-Marie Saudubray
Dec 13, 2006·Journal of Medical Genetics·J M van de KampR A Wevers
May 17, 2007·American Journal of Medical Genetics. Part a·Christian KranzHudson H Freeze
Aug 1, 2007·American Journal of Medical Genetics. Part a·F A McKenzieJ Jaeken
Nov 24, 2007·Journal of Perinatology : Official Journal of the California Perinatal Association·D WurmL Gortner
Jun 24, 2008·Molecular Genetics and Metabolism·Gerben TruinEva Morava
Mar 11, 2009·Biochimica Et Biophysica Acta·Stephanie Grünewald
Apr 1, 2009·American Journal of Medical Genetics. Part a·Carlo BelliniEugenio Bonioli
Apr 2, 2009·Pediatrics·Orna Staretz-ChachamEllen Sidransky
Aug 19, 2009·Journal of Inherited Metabolic Disease·K VeselaJ Zeman
Citations
Nov 10, 2012·Orphanet Journal of Rare Diseases·Catharina WhybraEva Mildenberger
Aug 14, 2012·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·A BrassierP de Lonlay
Sep 15, 2015·Indian Journal of Pediatrics·Nalinikanta PanigrahyAlla Venkatlakshmi
Dec 17, 2014·Orphanet Journal of Rare Diseases·Marie-Lorraine MoninDelphine Héron
May 1, 2016·Indian Journal of Pediatrics·Seema Alam, Vikrant Sood
Nov 18, 2016·Journal of Inherited Metabolic Disease·Laurent GuibaudChristine Vianey-Saban
Dec 5, 2012·Acta Cirúrgica Brasileira·Patrícia Veruska Ribeiro Barbosa LemosSílvio Romero Gonçalves e Silva
Jul 26, 2017·American Journal of Medical Genetics. Part a·Sarah AlsubhiBrahim Tabarki
Sep 29, 2017·Journal of Medical Genetics·Manuel SchiffPascale De Lonlay
Apr 15, 2018·Journal of Inherited Metabolic Disease·Carlos R FerreiraEva Morava
Feb 12, 2019·Journal of Inherited Metabolic Disease·Ruqaiah AltassanEva Morava
Aug 20, 2019·Journal of Inherited Metabolic Disease·Mona M MakhamrehHuda B Al-Kouatly
Apr 24, 2016·Journal of Inherited Metabolic Disease·Sophie Collardeau-FrachonChristine Vianey-Saban
Jul 10, 2016·Journal of Inherited Metabolic Disease·Christine Vianey-SabanRoseline Froissart
Jan 29, 2019·American Journal of Medical Genetics. Part a·Veronica AroraIshwar Verma