{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T03:16:07Z","timestamp":1761016567281},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":6078,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1989,4]]},"abstract":"Abstract<\/jats:title>One of the most common hereditary, progressive encephalopathies in children\u2014juvenile neuronal ceroid lipofuscinosis (NCL)\u2014lacks methods for carrier detection and prenatal diagnosis. A transcervical chorionic villus biopsy was performed at 9 completed weeks in a fetus at high risk of this disease. The syncytiotrophoblast of the chorionic villi contained fingerprint inclusions similar to those observed in various cells from children with this disease. Together with previous reports of second\u2010trimester diagnosis in a case with late\u2010infantile NCL (MacLeod et al.<\/jats:italic>, 1984, 1985), the presence of typical inclusions in placental tissue sampled at term in the infantile NCL (Rapola et al<\/jats:italic>., 1987) and the lack of pathological alterations in one fetus at high risk of juvenile NCL and without clinical and morphological signs of disease at the age of 15 months (Kohlschutter et al.<\/jats:italic>, 1989), our findings strongly indicate that an early prenatal diagnosis of (juvenile) NCL is possible.<\/jats:p>","DOI":"10.1002\/pd.1970090407","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T02:43:58Z","timestamp":1172976238000},"page":"283-287","source":"Crossref","is-referenced-by-count":30,"title":["First\u2010trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi"],"prefix":"10.1002","volume":"9","author":[{"given":"N. G.","family":"Conradi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Uvebrant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.\u2010H.","family":"H\u00f6keg\u00e5rd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Wahlstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Mellqvist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/BF02889252","article-title":"Distribution of cytoplasmic vacuoles in blood T and B lymphocytes in two lysosomal disorders","volume":"18","author":"Aula P.","year":"1975","journal-title":"Virchows Arch. 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Psychiatry"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970090408"},{"key":"e_1_2_1_8_1","first-page":"595","article-title":"Prenatal diagnosis of neuronal ceroid lipofuscinosis","volume":"319","author":"MacLeod P. M.","year":"1984","journal-title":"N. Engl. J. Med."},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220413"},{"key":"e_1_2_1_10_1","first-page":"120","article-title":"Diagnosis of INCL from placental villi (Abstract)","volume":"18","author":"Rapola J.","year":"1987","journal-title":"Neuropediatrics"},{"key":"e_1_2_1_11_1","unstructured":"Rayner S.(1962).Juvenile amaurotic idiocy in Sweden. Thesis. Lund: H\u00e5kan Ohlssons Boktryckeri."},{"key":"e_1_2_1_12_1","first-page":"117","article-title":"First trimester diagnosis of neuronal ceroid lipofuscinosis on chorionic villi (Abstract)","volume":"18","author":"Uvebrant P.","year":"1987","journal-title":"Neuropediatrics"},{"key":"e_1_2_1_13_1","first-page":"588","volume-title":"Leucodystrophies and Poliodystrophies","author":"Zeman W.","year":"1970"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970090407","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970090407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T02:36:50Z","timestamp":1697942210000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970090407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,4]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1989,4]]}},"alternative-id":["10.1002\/pd.1970090407"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970090407","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,4]]}}}