Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience

Abstract

Lysosomal storage disorders (LSD) are rare inherited neurovisceral inborn errors of metabolism which may present as nonimmune hydrops fetalis (NIHF) during pregnancy. Although causes of NIHF are highly diverse, LSDs are one of the underlying causes of NIHF. The aim of this study was to elucidate most frequent causes of LSDs presenting as NIHF in Indian population. Several fetal tissues were investigated for enzymatic diagnosis of LSDs using modified fluorometric assays in the current prospective study carried out at our national tertiary center from 2006 through 2016. Other general causes of NIHF were ruled out. Twenty-one percent (7/33) of cases were confirmed to have LSDs. Two patients were diagnosed with Hurler syndrome; two had Sly syndrome and one each of Niemann-Pick disease type A/B, Gaucher's disease, and mucolipidosis. Four of eleven cases (36%) with recurrent NIHF were found to have LSDs. In spite of extreme rarity of LSDs, they should be considered as a potential cause of NIHF, especially with recurrent NIHF. Specific investigations of LSD leading to definitive diagnosis may aid the clinician in providing accurate genetic counseling and prenatal diagnosis to the patients and help in subsequent pregnancies to the families. Furthermore, early intervention and management with enzyme replacement therapy may be planned for the lysosomal storage disorders where available.

Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis

“…A higher diagnostic rate (36%) was noticed in our study compared with other studies (Moreno et al, 2013;Sheth et al, 2017;Sudrie-Arnaud et al, 2018;Lord et al, 2019;Sparks et al, 2019Sparks et al, , 2020. One reason was that recurrent fetal hydrops in the study represented a highly selected study group, which indicated that a higher incidence of single-gene disorders and non-genetic reasons contributing to NIHF has been ruled out as much as possible in the study following systematic work-up for NIHF.…”

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study

“…Ultimately, three additional cohorts were identified. The largest had 108 fetuses with both NIHF and LSD, followed by a cohort of seven fetuses and another cohort of five fetuses …”

Non-immune Hydrops in Neonates: A Tertiary Care Center Experience

“…In a study from India reporting a 10 year experience of 33 cases, LSDs were observed to make up 22% of the etiology [10]. With the advent of newer diagnostic tools like next generation sequencing (NGS), it is possible to diagnose metabolic disorders causing NIH, like inborn errors of metabolism (IEM), which previously remained underdiagnosed.…”