Download PDF
CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2014; 01(01): 17-24
DOI: 10.1007/s40556-014-0001-3
Original Article

Prenatal Diagnosis of Lysosomal Storage Disorders by Enzymes Study Using Chorionic Villus and Amniotic Fluid

Jayesh Sheth
1   Department of Biochemical and Molecular Genetics, FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, 380015, Ahmadabad, Gujarat, India
,
Mehul Mistri
1   Department of Biochemical and Molecular Genetics, FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, 380015, Ahmadabad, Gujarat, India
,
Frenny Sheth
1   Department of Biochemical and Molecular Genetics, FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, 380015, Ahmadabad, Gujarat, India
,
Chaitanya Datar
2   Rare Genetic Disorder Clinic, Sahyadri Medical Genetics and Tissue Engineering Facility (SMGTEF), Pune, India
,
Koumudi Godbole
3   Department of Genetics, Deenanath Mangeshkar Hospital & Research Center, Erandawane, Pune, India
,
Mahesh Kamate
4   Department of Pediatric Neurology and Child Development Center, KLES PK Hospital, Belgaum, India
,
Kamal Patil
5   Department of Obstetrics & Gynecology, KLES PK Hospital, Belgaum, India
› Author Affiliations
› Further Information
  PDF Download Permissions and Reprints

Abstract

The reported prevalence of lysosomal storage disorder (LSD) is 1:5,000–7,000 live births and with the limited availability of therapeutic option; prenatal diagnosis (PD) remains the only preventable cure for storage disorders. One hundred forty pregnancies having confirmed diagnosis of LSDs in index case were selected for enzymes study during PD from uncultured and/or cultured chorionic villus (CV/CCV) and cultured amniotic fluid (CAF) cells. In seven pregnancies, molecular analysis was additionally carried out where mutation was known in an index case. Of 140 pregnancies, 60 (42.9 %) were diagnosed as affected, 13 (9.3 %) had an intermediate enzyme activity and 67 (47.8 %) had normal enzyme activity. Results were confirmed in 83 cases whereas 57 cases were lost from the follow-up. In one case, enzyme β-galactose-6 sulphate sulphatase specific for Morquio-A disorder [mucopolysaccharidosis-IVA (MPS-IVA)] had shown 30 % reduced activity in CV cells and the case was diagnosed as carrier for MPS-IVA while it delivered an affected child. Further molecular analysis in seven cases that included six with Tay-Sachs and one with Gaucher disease, confirmed the results obtained by enzymatic study during PD. PD of LSDs can be carried out by enzymes study from CV/CCV and CAF with an accuracy of molecular method. However, in cases of MPS and mucolipidosis, Amniotic fluid (AF) is preferred over CV/CCV. In addition, special care is needed while interpreting enzyme results encompassing carrier status and they need to be further evaluated by molecular studies.

Keywords

Lysosomal storage disorders - Prenatal diagnosis - Enzyme assays - Chorionic villus sampling - Amniotic fluid studies


Publication History

Received: 17 April 2014

Accepted: 20 May 2014

Article published online:
08 May 2023

© 2014. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India