{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:55:17Z","timestamp":1781657717871,"version":"3.54.5"},"reference-count":52,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,7,17]],"date-time":"2018-07-17T00:00:00Z","timestamp":1531785600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"This study was supported by the fund from Guangzhou Women and Children's Medical Center\/Guangzhou Institute of Pediatrics"},{"name":"the Major Medical Collaboration and Innovation Program of Guangzhou Science Technology and Innovation Commission","award":["201604020020"],"award-info":[{"award-number":["201604020020"]}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To report the 4\u2010year experience of early prenatal diagnosis of lysosomal storage disorders (LSDs) at a center in mainland China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Forty\u2010seven 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5329","type":"journal-article","created":{"date-parts":[[2018,7,2]],"date-time":"2018-07-02T21:44:47Z","timestamp":1530567887000},"page":"779-787","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis"],"prefix":"10.1002","volume":"38","author":[{"given":"Duan","family":"Li","sequence":"first","affiliation":[{"name":"Department of Genetics and Endocrinology Guangzhou Women and Children's Medical Center  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunting","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology Guangzhou Women and Children's Medical Center  Guangzhou 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