{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T02:11:49Z","timestamp":1776132709663,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,12,8]],"date-time":"2006-12-08T00:00:00Z","timestamp":1165536000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2007,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Achondroplasia is the most common form of short\u2010limbed dwarfism in humans and is caused by mutations in the <jats:italic>FGFR3<\/jats:italic> gene. Currently, prenatal diagnosis of this disorder relies on invasive procedures. Recent studies have shown that fetal single gene point mutations could be detected in cell\u2010free DNA (cf\u2010DNA) from maternal plasma by either the matrix\u2010assisted laser desorption\/ionization time\u2010of\u2010flight mass spectrometry (MALDI\u2010TOF MS) assay with single allele base extension reaction (SABER) approach or the size fractionation of cf\u2010DNA in maternal plasma. Here, we combined the two approaches to non\u2010invasively examine the fetal G1138A mutation in maternal plasma.<\/jats:p><jats:p>cf\u2010DNA was extracted from maternal plasma samples obtained from two pregnant women at risk for achondroplasia. The fetal G1138A mutation was determined by the analysis of size\u2010fractionated cf\u2010DNA in maternal plasma using MALDI\u2010TOF MS with SABER approach and homogenous MassEXTEND (hME) assay, respectively.<\/jats:p><jats:p>The fetal G1138A mutation was detectable in the two achondroplasia\u2010affected pregnancies by the analysis of cf\u2010DNA in maternal plasma using MALDI\u2010TOF MS. However, the size\u2010fractionation approach led to a more precise detection of the fetal mutation in both analyses.<\/jats:p><jats:p>This analysis would be suitable for non\u2010invasive prenatal diagnosis of diseases caused by fetal single gene point mutations. Copyright \u00a9 2007 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.1608","type":"journal-article","created":{"date-parts":[[2006,12,8]],"date-time":"2006-12-08T11:47:07Z","timestamp":1165578427000},"page":"11-17","source":"Crossref","is-referenced-by-count":74,"title":["Non\u2010invasive prenatal detection of achondroplasia in size\u2010fractionated cell\u2010free DNA by MALDI\u2010TOF MS assay"],"prefix":"10.1002","volume":"27","author":[{"given":"Ying","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Godelieve C. M. L.","family":"Page\u2010Christiaens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johan J. P.","family":"Gille","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"Holzgreve","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sinuhe","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,12,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.024893"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0403962101"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.5.787"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003081-200209000-00008"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1030"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.029835"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.293.7.843"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)02174-0"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199812103392402"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199606)16:6<525::AID-PD909>3.0.CO;2-N"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.AOG.0000103996.44503.F1"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/371252a0"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02767-7"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90302-6"},{"key":"e_1_2_1_16_1","first-page":"70","article-title":"Risk free simultaneous prenatal identification of fetal Rhesus D status and sex by multiplex real\u2010time PCR using cell free fetal DNA in maternal plasma","volume":"131","author":"Zhong XY","year":"2001","journal-title":"Swiss Med Wkly"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1608","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1608","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T17:24:44Z","timestamp":1700069084000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1608"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,8]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,1]]}},"alternative-id":["10.1002\/pd.1608"],"URL":"https:\/\/doi.org\/10.1002\/pd.1608","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12,8]]}}}