{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:40:49Z","timestamp":1760737249270,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,10]]},"abstract":"<jats:p>Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder characterised by the deficient activity of iduronidase and by the presence of MPS vacuoles in many tissues of affected patients. We studied whether these characteristics could be used for the antenatal diagnosis of the disease. We obtained amniotic fluid cells from two pregnancies at risk for MPS I, one pregnancy at risk for GSD II (another lysosomal disease), and eight normal control pregnancies. Measurements of iduronidase activity in cultured amniotic fluid cells indicated the presence of a MPS I fetus in one high risk pregnancy and an unaffected fetus in the other. This diagnosis was confirmed at delivery. On electron microscopy the uncultured amniotic fluid cells exhibited MPS-like vacuoles in the pregnancy with a GSD II fetus, in three of eight normal pregnancies, and in the pregnancy at risk for MPS I that had a normal fetus. No such vacuoles were seen in the pregnancy with the MPS I fetus. These false positive and false negative findings indicate that antenatal diagnosis of MPS I cannot be based on the electron microscopic presence or absence of MPS I vacuoles in uncultured amniotic fluid cells.<\/jats:p>","DOI":"10.1136\/jmg.21.5.359","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"359-363","source":"Crossref","is-referenced-by-count":2,"title":["Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells."],"prefix":"10.1136","volume":"21","author":[{"given":"G","family":"Hug","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Soukup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Chuck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Ryan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,10,1]]},"reference":[{"key":"ref_1","first-page":"751","article-title":"The mucopolysaccharide storage diseases. In: The metabolic basis of inherited disease","author":"McKusick, V.A.; Neufeld, E.F.","year":"1983","unstructured":"McKusick VA, Neufeld EF. The mucopolysaccharide storage diseases. In: The metabolic basis of inherited disease. New York: McGraw-Hill, 1983:751-77."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/0076-6879(78)50048-7","article-title":"Enzyme diagnosis of the genetic mucopolysaccharide storage disorders","volume":"50","year":"1978","unstructured":"Hall CW, Liebaers 1, Di Natale P, Neufeld EF. Enzyme diagnosis of the genetic mucopolysaccharide storage disorders. Methods Enzymol 1978;50:439-56.","journal-title":"Methods Enzymol"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1159\/000401562","article-title":"Electron microscopy of cultured skin fibroblasts and amniotic fluid cells in the diagnosis of hereditary storage diseases","volume":"10","author":"Ornoy, A.; Sekeles, E.; Cohen, R.; Kohn, G.","year":"1978","unstructured":"Ornoy A, Sekeles E, Cohen R, Kohn G. Electron microscopy of cultured skin fibroblasts and amniotic fluid cells in the diagnosis of hereditary storage diseases. Monogr Hum Genet 1978;10:32-9.","journal-title":"Monogr Hum Genet"},{"key":"ref_4","first-page":"1002","article-title":"Prenatal diagnosis of type II glycogenosis","volume":"i:","author":"Hug, G.; Schubert, W.K.; Soukup, S.","year":"1970","unstructured":"Hug G, Schubert WK, Soukup S. Prenatal diagnosis of type II glycogenosis. Lancet 1970;i:1002.","journal-title":"Lancet"},{"key":"ref_5","first-page":"709","article-title":"Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone marrow transplantation","volume":"ii:","author":"Hobbs, JR, Barret; AJ, Chambers; D.","year":"1981","unstructured":"Hobbs JR, Barret AJ, Chambers D, et al. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone marrow transplantation. Lancet 1981;ii:709-12.","journal-title":"Lancet"},{"key":"ref_6","article-title":"The molecular basis of lysosomal storage disorders","author":"Brady, R.O.","year":"1984","unstructured":"Brady RO, Barranger JA, eds. The molecular basis of lysosomal storage disorders. New York: Academic Press, 1984."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1126\/science.6879201","article-title":"First trimester prenatal diagnosis. a new method of prenatal diagnosis may largely replace amniocentesis","volume":"221","author":"Kolata, G.","year":"1983","unstructured":"Kolata G. First trimester prenatal diagnosis. a new method of prenatal diagnosis may largely replace amniocentesis. Science 1983;221:1031-2.","journal-title":"Science"},{"key":"ref_8","first-page":"\"7A.\" # \"1018","article-title":"Alpha1-antitrypsin deficiency and pulmonary emphysema: prenatal diagnosis by analysis of the chromosomal alpha1-antitrypsin gene","volume":"17","author":"Kidd, V.J.; Tan, Z.K.; Wallace, B.R.; Itakura, K.; Woo, S.L.C.","year":"1983","unstructured":"Kidd VJ, Tan ZK, Wallace BR, Itakura K, Woo SLC. Alpha1-antitrypsin deficiency and pulmonary emphysema: prenatal diagnosis by analysis of the chromosomal alpha1-antitrypsin gene. Pediatr Res 1983;17:7A. Hug G, Soukup S, Ryan M, Chuck G. Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells. N Engl J Med 1984;310:1018-22.","journal-title":"Pediatr Res; Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.21.5.359","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:03:23Z","timestamp":1760735003000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.21.5.359"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,10]]},"references-count":8,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1984,10,1]]},"published-print":{"date-parts":[[1984,10]]}},"alternative-id":["10.1136\/jmg.21.5.359"],"URL":"https:\/\/doi.org\/10.1136\/jmg.21.5.359","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1984,10]]}}}