{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:55:21Z","timestamp":1761101721094},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[1993,2,11]],"date-time":"1993-02-11T00:00:00Z","timestamp":729388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1993,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Prenatal diagnosis has been undertaken in 17 pregnancies in 15 families at risk for aspartoacylase deficiency. Amniocentesis was at 14\u201318 weeks gestation followed by measurement of amniotic fluid<jats:italic>N<\/jats:italic>\u2010acetyl\u2010<jats:sc>l<\/jats:sc>\u2010aspartate (NAA) levels in all pregnancies and amniocyte aspartoacylase activity in most pregnancies. In one case amniocentesis was performed at 11 weeks gestation in conjunction with chorionic villus sampling. At 14\u201318 weeks of gestation, control levels of NAA were 0.30\u20132.55 \u00b5mol\/L. The fetus was predicted to be affected in 8 of the pregnancies, 4 of which were confirmed by enzyme analysis on fetal tissue and 2 by the clinical and metabolic expression of Canavan disease in a newborn. In two cases there was no fetal tissue available for enzyme confirmation. One of these had the highest amniotic fluid NAA level (8.68 \u00b5mol\/L) and in the other pregnancy there were two amniocenteses, both with markedly elevated levels. Of 9 fetuses predicted to be normal, 8 newborns were clinically and biochemically normal. A single case with amniotic fluid NAA in the normal range (1.56 \u00b5mol\/L, measured in one laboratory only) resulted in an aborted fetus in whom aspartoacylase was deficient in cultured skin fibroblasts. We propose that amniotic fluid NAA levels remain the best predictor of an affected fetus and recommend that the assay be performed in multiple laboratories.<\/jats:p>","DOI":"10.1007\/bf00714274","type":"journal-article","created":{"date-parts":[[2004,12,2]],"date-time":"2004-12-02T03:42:42Z","timestamp":1101958962000},"page":"831-836","source":"Crossref","is-referenced-by-count":43,"title":["Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis"],"prefix":"10.1002","volume":"16","author":[{"given":"M. J.","family":"Bennett","sequence":"first","affiliation":[{"name":"Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center Baylor University Medical Center  3500 Gaston Avenue Dallas TX 75246 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. M.","family":"Gibson","sequence":"additional","affiliation":[{"name":"Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center Baylor University Medical Center  3500 Gaston Avenue Dallas TX 75246 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. G.","family":"Sherwood","sequence":"additional","affiliation":[{"name":"Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center Baylor University Medical Center  3500 Gaston Avenue Dallas TX 75246 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Divry","sequence":"additional","affiliation":[{"name":"Centre d'Etude des Malades Metaboliques Hopital Debrousse  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. O.","family":"Rolland","sequence":"additional","affiliation":[{"name":"Centre d'Etude des Malades Metaboliques Hopital Debrousse  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O. N.","family":"Elpeleg","sequence":"additional","affiliation":[{"name":"Metabolic Screening Laboratory Shaare Zedek Medical Center  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Rinaldo","sequence":"additional","affiliation":[{"name":"Department of Genetics Yale University School of Medicine  New Haven CT 06510 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Jakobs","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Free University Hospital  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1993,2,11]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320425"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800378"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.12.1876"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800038"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957737"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799929"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800351"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(86)90285-8"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02435985"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290234"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1991.tb14967.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)90323-H"},{"key":"e_1_2_1_14_1","unstructured":"RollandMO DivryP MandonG FiumaraA(1992)First trimester prenatal diagnosis of Canavan disease.Proc 30th Symposium Society for the Study of Inborn Errors of Metabolism Abstract P45.."}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00714274","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00714274","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T12:50:38Z","timestamp":1694868638000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00714274"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,2,11]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1993,9]]}},"alternative-id":["10.1007\/BF00714274"],"URL":"https:\/\/doi.org\/10.1007\/bf00714274","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,2,11]]}}}