title: 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.
authors.affiliation: FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380 015, India. jshethad1@gmail.com.
authors.forename: Jayesh
authors.initials: J
authors.lastname: Sheth
authors.affiliation: FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380 015, India.
authors.forename: Mehul
authors.initials: M
authors.lastname: Mistri
authors.affiliation: FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380 015, India.
authors.forename: Krati
authors.initials: K
authors.lastname: Shah
authors.affiliation: Department of Fetal Medicine, May Flower Hospital, Ahmedabad, 380 009, Gujarat, India.
authors.forename: Mayank
authors.initials: M
authors.lastname: Chaudhary
authors.affiliation: Department of Genetics, Deenanath Mangeshkar Hospital, Pune, India.
authors.forename: Koumudi
authors.initials: K
authors.lastname: Godbole
authors.affiliation: FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380 015, India.
authors.forename: Frenny
authors.initials: F
authors.lastname: Sheth