Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

Molecular Genetics and Metabolism
Nadia LéticéeTania Attié-Bitach

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.

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Citations

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
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
Apr 15, 2018·Journal of Inherited Metabolic Disease·Carlos R FerreiraEva 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

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