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Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis
Author(s) -
Li Duan,
Lin Yunting,
Huang Yonglan,
Zhang Wen,
Jiang Minyan,
Li Xiuzhen,
Zhao Xiaoyuan,
Sheng Huiying,
Yin Xi,
Su Xueying,
Shao Yongxian,
Liu Zongcai,
Li Dongzhi,
Li Fatao,
Liao Can,
Liu Li
Publication year - 2018
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5329
Subject(s) - prenatal diagnosis , amniotic fluid , fetus , chorionic villus sampling , umbilical cord , metachromatic leukodystrophy , chorionic villi , medicine , glucocerebrosidase , lysosomal storage disease , enzyme , mucopolysaccharidosis , enzyme assay , pregnancy , pathology , disease , chemistry , biology , immunology , biochemistry , genetics
Objective To report the 4‐year experience of early prenatal diagnosis of lysosomal storage disorders (LSDs) at a center in mainland China. Method Forty‐seven pregnancies affected with LSDs were assed using enzymes and/or molecular studies. Prenatal studies were performed on 43 uncultured chorionic villi (CV) samples, two amniotic fluid samples, and two umbilical cord blood samples. Results Of the 47 fetuses, 23 (48.9%) were determined to normal, 13 (27.7%) to be carriers, and 11 (23.4%) diagnosed as affected. In this cohort, mucopolysaccharidoses (MPS) type II was the most common LSD, followed by Pompe disease and then metachromatic leucodystrophy. In the 17 MPS II cases, the four affected fetuses showed MPS II enzyme activity expression levels of 1.4% to 6.7%, while the enzyme activity levels of the 13 normal fetuses ranged from 72% to 240.4%. In the seven Pompe cases, three fetuses were normal with Pompe enzyme activity expression levels of 20%, 38.8%, and 77.3%, while four carrier pregnancies showed enzyme activity levels of 17.5%, 17.5%, 33.4%, and 13.8%, respectively. Conclusion Based on different enzyme properties in uncultured CV, different prenatal diagnostic strategies should be adopted for MPS II and Pompe disease. Combining enzyme assay and molecular studies in uncultured CV improves the reliability of prenatal diagnosis of LSDs.