{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T12:34:31Z","timestamp":1789734871497,"version":"4.0.1"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T00:00:00Z","timestamp":1543363200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006005","name":"Agence de la Biom\u00e9decine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To assess the performance of non\u2010invasive prenatal testing (NIPT) for achondroplasia using high\u2010resolution melting (HRM) analysis, and to propose an optimal diagnostic strategy combining ultrasound examination and cell\u2010free fetal DNA (cffDNA) analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this prospective multicenter study, cffDNA was extracted from blood of pregnant women at risk for fetal achondroplasia (owing to paternal achondroplasia, previous affected child or suspected rhizomelic shortening) and of pregnant low\u2010risk controls. The presence of either one of the two main fibroblast growth factor receptor 3 gene (<jats:italic>FGFR3<\/jats:italic>) mutations was determined using HRM combined with confirmation by SNaPshot minisequencing. Results were compared with phenotypes obtained using three\u2010dimensional computed tomography or postnatal examination, and\/or molecular diagnosis by an invasive procedure. Fetal biometry (head circumference and femur length) was analyzed in order to develop a strategy in which cffDNA analysis for diagnosis of\n achondroplasia is offered only in selected cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eighty\u2010six blood samples from women at risk for fetal achondroplasia and 65 from controls were collected. The overall sensitivity and specificity of NIPT were 1.00 (95% CI, 0.87\u20131.00) and 1.00 (95% CI, 0.96\u20131.00), respectively. Critical reduction in femur length of affected fetuses could be observed from 26\u2009weeks' gestation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>HRM combined with SNaPshot minisequencing is a reliable method for NIPT for achondroplasia. Its implementation in routine clinical care combined with ultrasonography is an efficient strategy for the non\u2010invasive diagnosis of achondroplasia. Copyright \u00a9 2018 ISUOG. Published by John Wiley &amp; Sons Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.19018","type":"journal-article","created":{"date-parts":[[2018,1,30]],"date-time":"2018-01-30T14:46:08Z","timestamp":1517323568000},"page":"87-94","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Optimal non\u2010invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell\u2010free fetal DNA analysis"],"prefix":"10.1002","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4921-0047","authenticated-orcid":false,"given":"A. 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