{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T15:55:14Z","timestamp":1765382114084,"version":"3.37.3"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,4,15]],"date-time":"2018-04-15T00:00:00Z","timestamp":1523750400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["H27\u2010nanchitou (nan)\u2010ippan\u2010024"],"award-info":[{"award-number":["H27\u2010nanchitou (nan)\u2010ippan\u2010024"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Thanatophoric dysplasia and achondroplasia are allelic disorders caused by a constitutively active mutation in the <jats:italic>FGFR3<\/jats:italic> gene. Because thanatophoric dysplasia is a lethal disorder and achondroplasia is non\u2010lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell\u2010free fetal DNA in the maternal circulation to distinguish thanatophoric dysplasia and achondroplasia. A multiplex PCR system encompassing five mutation hotspots in the <jats:italic>FGFR3<\/jats:italic> gene allowed us to efficiently identify the responsible mutation in cell\u2010free DNA in all examined pregnancies with a suspected thanatophoric dysplasia or achondroplasia fetus. This system will be helpful in the differential diagnosis of thanatophoric dysplasia and achondroplasia in early gestation and in couples concerned about the recurrence of thanatophoric dysplasia due to germinal mosaicism.<\/jats:p>","DOI":"10.1111\/cga.12278","type":"journal-article","created":{"date-parts":[[2018,3,15]],"date-time":"2018-03-15T12:31:39Z","timestamp":1521117099000},"page":"4-10","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Multiplex PCR in noninvasive prenatal diagnosis for <i>FGFR3<\/i>\u2010related disorders"],"prefix":"10.1111","volume":"59","author":[{"given":"Sumire","family":"Terasawa","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Fujita Health University, School of Medicine  Toyoake Japan"},{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science, Fujita Health University  Toyoake 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