Elsevier

Clinica Chimica Acta

Volume 248, Issue 2, 30 April 1996, Pages 143-155
Clinica Chimica Acta

Research communication
Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis)

https://doi.org/10.1016/0009-8981(95)06250-5Get rights and content

Abstract

Seventy amniotic fluids (AF) were sampled because of abnormal ultrasound findings (mainly non-immune hydrops fetalis (54 cases) or of the presence of vacuolated lymphocytes in fetal blood (3 cases)). They were analysed by a procedure involving AF supernatant analysis (glycosaminoglycans, oligosaccharides, free sialic acid and acid hydrolase activities) and biochemical study of cultured AF cells. Ten cases of lysosomal storage diseases (LSD) were diagnosed. The reported procedure allows an orientating screening within 3 days by analysis of 15 ml of third trimester AF supernatant (except for Gaucher and Niemann-Pick diseases). In some cases, the results allow an LSD diagnosis and a medical abortion without waiting for the formal diagnosis (in cultured AF cells that needs 3 more weeks), considering the poor prognosis of these LSD presenting in utero. Furthermore, the formal assessment of the diagnosis in the cultured fetal cells allows accurate genetic counselling for the couple.

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  • Cited by (33)

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      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.

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      2015, American Journal of Obstetrics and Gynecology
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      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%).

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      2013, Handbook of Clinical Neurology
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      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.

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