{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:17:29Z","timestamp":1790457449409,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,8,19]],"date-time":"2018-08-19T00:00:00Z","timestamp":1534636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81601294"],"award-info":[{"award-number":["81601294"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To explore the feasibility and accuracy of a noninvasive prenatal test for fibroblast growth factor receptor 3 (<jats:italic>FGFR3<\/jats:italic>)\u2010related skeletal dysplasia based on next\u2010generation sequencing (NGS) of plasma cell\u2010free DNA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Fragmented genome DNA (gDNA) of fetuses with achondroplasia (ACH) and thanatophoric dysplasia type I (TD I) was mixed with postdelivery maternal plasma cell\u2010free DNA to generate spiked samples of different modeled fetal fractions. Multiplex polymerase chain reaction was used to amplify the 19 <jats:italic>FGFR3<\/jats:italic> loci, and the amplification products were then sequenced by NGS to detect the fetal mutant alleles. Then, maternal plasma samples of pregnant women carrying ACH (<jats:italic>n<\/jats:italic>\u00a0=\u00a04) and TD I fetuses (<jats:italic>n<\/jats:italic>\u00a0=\u00a02), as well as healthy controls (<jats:italic>n<\/jats:italic>\u00a0=\u00a015), were tested by NGS, and the test performance was evaluated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fetal <jats:italic>FGFR3<\/jats:italic> mutations were detected in all artificial mixtures with fetal gDNA concentrations above 3%. In clinical validation, our method identified all fetal <jats:italic>FGFR3<\/jats:italic> mutant alleles from maternal plasma, with no false positive results. The sensitivity and specificity of our method were 100% (95% CI, 54.1%\u2010100%) and 100% (78.2%\u2010100%), respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our method had a favorable performance for noninvasively detecting fetal <jats:italic>FGFR3<\/jats:italic> mutations in maternal plasma, highlighting its promising value in developing a noninvasive prenatal test for <jats:italic>de novo<\/jats:italic> and paternally inherited disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5334","type":"journal-article","created":{"date-parts":[[2018,7,26]],"date-time":"2018-07-26T16:58:50Z","timestamp":1532624330000},"page":"821-828","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Noninvasive prenatal test for <i>FGFR3<\/i>\u2010related skeletal dysplasia based on next\u2010generation sequencing and plasma cell\u2010free DNA: Test performance analysis and feasibility 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