Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis

Abstract

Objective Nonimmune hydrops fetalis (NIHF) is defined by the excessive fluid accumulation in more than one foetal compartments and body cavities because of nonimmune reasons. It has been described that 14 lysosomal diseases may be causative of NIHF. The aim of this study was to design a fast protocol to investigate the most frequent lysosomal diseases that are reported that may cause NIHF.Method We analysed the glycosaminoglycans excretion in the amniotic fluid supernatant and four different lysosomal enzymatic activities in the amniotic cultured cells of the different NIHF amniotic fluids we received.Results We investigated 30 NIHF cases, using this fast protocol. We detected two cases of NIHF because of lysosomal diseases, which represent 6.6%. We diagnosed one case of mucopolysaccharidosis type VII and one case of Gaucher disease. ConclusionThe fast protocol we designed analyses seven of the most frequent lysosomal pathologies that have been described that may cause NIHF, with only five different determinations, which make the analysis of NIHF fast, cost-effective and without need of too much amniotic fluid. We believe this protocol may be useful for the analysis of lysosomal diseases in NIHF.

Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases

“…Noonan syndrome). Sequential protocols for investigation of NIFH have been proposed to optimize diagnosis and avoid cost prohibitive investigations . Despite these efforts, such protocols are not universally practiced.…”

Amniotic fluid glycosaminoglycans in the prenatal diagnosis of mucopolysaccharidoses - A useful biomarker

“…Gaber KR et al reported MPS II with 2-DE on the AMF in a case with high maternal serum α-fetoprotein (3.6 MoM), and neural tube defect [19]. Fetal hydrops is a manifestation in some types of MPS especially in MPS VII [20,21]. Nasr et al reported the sensitiveness of 2-DE on the Egyptian population for the PND of MPS [22].…”

“…The analytical method employed in the current study is simple, rapid, and has been found completely reliable in the prenatal diagnosis. In pregnancies with high serum α-fetoprotein and neural tube defect, AMF GAG estimation is recommended [18][19][20][21]. Patients affected with Hunter syndrome and closed cephalocele were generally overlooked in the fetal ultrasound evaluation.…”

Recurrent non immune hydrops fetalis: a case report

“…4 However, despite this there are many families have had more than one child with fetal or neonatal hydrops in whom the underlying genetic defect could not be discovered.…”

“…4,5 The identification of a single gene disorder not only helps in predicting the outcome of the current pregnancy, but also has an impact on the management or screening of future pregnancies in the family.…”