Research communicationAmniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis)
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Cited by (33)
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation
2018, Clinica Chimica ActaCitation Excerpt :In addition, other IEM have been associated with this condition, including glycogenosis type IV [8], peroxisomal disorders [9], transaldolase deficiency [10], cholesterol metabolism inborn errors [11], citric cycle defects and congenital disorders of glycosylation [12–16]. Usually, the recommended IEM investigations are limited to exploring the possibility of LSDs, including biochemical analyses of oligosaccharides, mucopolysaccharides, and sialic acid and an assessment of a subset of lysosomal enzyme activities, using the amniotic fluid supernatant and cultured amniocytes [17,18]. The systematic LSD investigations performed in our institution are summarized in Table 1.
Lysosomal storage disease as an etiology of nonimmune hydrops
2015, American Journal of Obstetrics and GynecologyCitation Excerpt :One study27 reported genetic diagnoses but did not define what was included in that category. Another series28 had 10 cases of LSDs, but not all were NIH and we were unable to find out which cases were associated with NIH and which ones were not correlated. In comparison, in the other 39 series without an LSD workup, a diagnosis was achieved in 2028 of 2464 cases (82.3%).
Gaucher disease
2013, Handbook of Clinical NeurologyCitation Excerpt :It is as rare as type II with which it is usually associated, although it is characterized by specific clinical signs deserving a description (Mignot et al., 2003). Hydrops fetalis, hepatomegaly, splenomegaly, thrombopenia, and vacuolated lymphocytes in fetal blood are classic signs of fetal lysosomal storage diseases, including Gaucher disease (Piraud et al., 1996). In fetuses with signs of Gaucher disease, nonimmunological hydrops fetalis is reported in about two thirds of the pregnancies.
Prenatal symptoms and diagnosis of inherited metabolic diseases
2012, Archives de PediatrieLysosomal storage diseases in non-immune hydrops fetalis pregnancies
2006, Clinica Chimica ActaA novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred
2004, Molecular Genetics and Metabolism