{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T08:54:20Z","timestamp":1753520060028},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,5,12]],"date-time":"2011-05-12T00:00:00Z","timestamp":1305158400000},"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 Obstet and Gynaecol"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hypophosphatasia is an inheritable disorder characterized by defective bone mineralization and a deficiency of tissue\u2010nonspecific alkaline phosphatase (TNSALP) activity. Screening for mutations in the <jats:italic>TNSALP<\/jats:italic> gene allows genetic counseling and prenatal diagnosis of the disease in families with severe forms of hypophosphatasia. A 33\u2010year\u2010old, gravida 4, para 3 Japanese woman was referred to Nagoya City University Hospital for prenatal genetic counseling because of two previous occurrences of fetal bone anomalies. The molecular examination showed that the fetus was homozygous for the <jats:italic>TNSALP<\/jats:italic> gene mutation c.1559delT, each parent being heterozygous. Genetic counseling was offered and at the next pregnancy, chorionic villus sampling was performed, whereupon genetic analysis confirmed that the fetus did not carry the familial mutation c.1559delT. Postnatal molecular genetic analysis using the cord tissue can provide a diagnosis of lethal hypophosphatasia and prenatal genetic diagnosis of the <jats:italic>TNSALP<\/jats:italic> gene allows time for parental counseling and delivery planning.<\/jats:p>","DOI":"10.1111\/j.1447-0756.2011.01526.x","type":"journal-article","created":{"date-parts":[[2011,5,12]],"date-time":"2011-05-12T11:23:15Z","timestamp":1305199395000},"page":"1470-1473","source":"Crossref","is-referenced-by-count":7,"title":["Prenatal diagnosis of familial lethal hypophosphatasia using imaging, blood enzyme levels, chorionic villus sampling and archived fetal tissue"],"prefix":"10.1111","volume":"37","author":[{"given":"Nobuhiro","family":"Suzumori","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Etienne","family":"Mornet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eita","family":"Mizutani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shintaro","family":"Obayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhiko","family":"Ozaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mayumi","family":"Sugiura\u2010Ogasawara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,5,12]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C"},{"key":"e_1_2_5_3_2","first-page":"286","article-title":"Infantile hypophosphatasia localization within chromosome region 1p36.1.1\u201034 and prenatal diagnosis using linked DNA markers","volume":"46","author":"Greenberg CR","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.20.7666"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1612-9"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.696"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1272\/jnms.74.65"},{"key":"e_1_2_5_8_2","first-page":"951","volume-title":"Principles of Bone Biology","author":"Whyte MP","year":"1996"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2088"},{"key":"e_1_2_5_10_2","first-page":"439","article-title":"Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization","volume":"15","author":"Whyte MP","year":"1994","journal-title":"Endocr Rev"}],"container-title":["Journal of Obstetrics and Gynaecology Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1447-0756.2011.01526.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1447-0756.2011.01526.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T03:02:34Z","timestamp":1697338954000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/j.1447-0756.2011.01526.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5,12]]},"references-count":9,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["10.1111\/j.1447-0756.2011.01526.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1447-0756.2011.01526.x","archive":["Portico"],"relation":{},"ISSN":["1341-8076","1447-0756"],"issn-type":[{"value":"1341-8076","type":"print"},{"value":"1447-0756","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5,12]]}}}