BACKGROUND: At least 20 inborn errors of metabolism may cause hydrops fetalis. Most of these are lysosomal storage diseases. The study proposes a diagnostic flowchart for prenatal diagnosis of non-immune hydrops fetalis. METHODS: This study contains a series of 75 non-immune hydrops fetalis pregnancies. Mucopolysaccharides, oligosaccharides, neuraminic acid and 21 lysosomal enzymes were measured in amniotic fluid and cultured amniotic cells. RESULTS: The study gives reference values for mucopolysaccharides and neuraminic acid at various stages of gestation. Four definite and two probable lysosomal diagnoses were found among the 75 investigated cases (=5.3-8%). Fetal death was found to cause false positive values for mucopolysaccharides in amniotic fluid. In the galactosialidosis case, two novel mutations were found in the cathepsin A gene. CONCLUSIONS: Reference values for mucopolysaccharides and neuraminic acid depend on gestational age. In a relatively high percentage of the hydrops foetalis pregnancies, a lysosomal aetiology is found. This study provides a strategy to diagnose lysosomal diseases in hydrops fetalis pregnancies. Awareness of lysosomal storage diseases causing hydrops fetalis is useful as it gives an opportunity for risk evaluation, genetic counseling to parents and targeted prenatal diagnostics for ensuing pregnancies.
BACKGROUND: At least 20 inborn errors of metabolism may cause hydrops fetalis. Most of these are lysosomal storage diseases. The study proposes a diagnostic flowchart for prenatal diagnosis of non-immune hydrops fetalis. METHODS: This study contains a series of 75 non-immune hydrops fetalis pregnancies. Mucopolysaccharides, oligosaccharides, neuraminic acid and 21 lysosomal enzymes were measured in amniotic fluid and cultured amniotic cells. RESULTS: The study gives reference values for mucopolysaccharides and neuraminic acid at various stages of gestation. Four definite and two probable lysosomal diagnoses were found among the 75 investigated cases (=5.3-8%). Fetal death was found to cause false positive values for mucopolysaccharides in amniotic fluid. In the galactosialidosis case, two novel mutations were found in the cathepsin A gene. CONCLUSIONS: Reference values for mucopolysaccharides and neuraminic acid depend on gestational age. In a relatively high percentage of the hydrops foetalis pregnancies, a lysosomal aetiology is found. This study provides a strategy to diagnose lysosomal diseases in hydrops fetalis pregnancies. Awareness of lysosomal storage diseases causing hydrops fetalis is useful as it gives an opportunity for risk evaluation, genetic counseling to parents and targeted prenatal diagnostics for ensuing pregnancies.
Authors: Teresa N Sparks; Kao Thao; Billie R Lianoglou; Nina M Boe; Kari G Bruce; Ilina Datkhaeva; Nancy T Field; Victoria M Fratto; Jennifer Jolley; Louise C Laurent; Anne H Mardy; Aisling M Murphy; Emily Ngan; Naseem Rangwala; Catherine A M Rottkamp; Lisa Wilson; Erica Wu; Cherry C Uy; Priscila Valdez Lopez; Mary E Norton Journal: Genet Med Date: 2018-11-09 Impact factor: 8.822
Authors: Jeroen van den Bosch; Linda F Oemardien; Malgorzata I Srebniak; Monique Piraud; Jan G M Huijmans; Frans W Verheijen; George J G Ruijter Journal: J Inherit Metab Dis Date: 2011-05-27 Impact factor: 4.982
Authors: Adriana M Montaño; Ngu Lock-Hock; Robert D Steiner; Brett H Graham; Marina Szlago; Robert Greenstein; Mercedes Pineda; Antonio Gonzalez-Meneses; Mahmut Çoker; Dennis Bartholomew; Mark S Sands; Raymond Wang; Roberto Giugliani; Alfons Macaya; Gregory Pastores; Anastasia K Ketko; Fatih Ezgü; Akemi Tanaka; Laila Arash; Michael Beck; Rena E Falk; Kaustuv Bhattacharya; José Franco; Klane K White; Grant A Mitchell; Loreta Cimbalistiene; Max Holtz; William S Sly Journal: J Med Genet Date: 2016-02-23 Impact factor: 6.318
Authors: Catharina Whybra; Eugen Mengel; Alexandra Russo; Franz Bahlmann; Christoph Kampmann; Michael Beck; Elke Eich; Eva Mildenberger Journal: Orphanet J Rare Dis Date: 2012-11-08 Impact factor: 4.123