{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:47:55Z","timestamp":1760730475772},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2013,8,23]],"date-time":"2013-08-23T00:00:00Z","timestamp":1377216000000},"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":[[2013,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study used a high\u2010resolution melting (HRM) technique to detect paternal mutations for the noninvasive prenatal diagnosis (NIPD) of \u03b2\u2010thalassemia and sickle cell anemia (HbS). We also determined the levels of cell\u2010free fetal DNA and total cell\u2010free DNA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We used the HRM technique for fetal genotyping of paternal mutations in maternal plasma from 32 pregnancies at risk of \u03b2\u2010thalassemia and 57 pregnancies at risk of HbS. The DNA levels in maternal plasma were measured using real\u2010time quantitative PCR. Multiples of the median (MoM) values were calculated in women at risk for \u03b2\u2010thalassemia or HbS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010two paternal mutations were detected in 89 pregnant women. Although we were successfully able to detect the paternal \u03b2\u2010thalassemia mutations, the mutant HbS fetuses could not be distinguished from maternal background in the early weeks of pregnancy. The detection of <jats:italic>DYS14<\/jats:italic> in male fetuses was 100%. The MoM values of women at high risk of having HbS\u2010affected fetuses were higher than those for the other groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>High\u2010resolution melting is a useful method for NIPD of \u03b2\u2010thalassemias by detecting paternal mutations in the maternal plasma. Cell\u2010free fetal DNA quantification and MoM values were not informative for HbS or \u03b2\u2010thalassemias in early pregnancy. \u00a9 2013 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4196","type":"journal-article","created":{"date-parts":[[2013,7,9]],"date-time":"2013-07-09T04:56:18Z","timestamp":1373345778000},"page":"1054-1062","source":"Crossref","is-referenced-by-count":20,"title":["Noninvasive prenatal diagnosis experience in the \u00c7ukurova Region of Southern Turkey: detecting paternal mutations of sickle cell anemia and \u03b2\u2010thalassemia in cell\u2010free fetal DNA using high\u2010resolution melting analysis"],"prefix":"10.1002","volume":"33","author":[{"given":"Ebru D\u00fcndar","family":"Yenilmez","sequence":"first","affiliation":[{"name":"\u00c7ukurova University, Faculty of Medicine Department of Medical Biochemistry  Adana Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdullah","family":"Tuli","sequence":"additional","affiliation":[{"name":"\u00c7ukurova University, Faculty of Medicine Department of Medical Biochemistry  Adana Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130. C\u00fcneyt","family":"Evr\u00fcke","sequence":"additional","affiliation":[{"name":"\u00c7ukurova University, Faculty of Medicine Department of Gynecology Obstetrics  Adana Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,8,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2011.08742.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199603)16:3<252::AID-PD839>3.0.CO;2-W"},{"issue":"2","key":"e_1_2_5_4_1","first-page":"61","article-title":"Population at risk for hemoglobinopathies in \u00c7ukurova, Turkey: need for prenatal diagnosis","volume":"4","author":"Y\u00fcregir GT","year":"1995","journal-title":"Ann Med Sci"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1986.tb05543.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2006.01.003"},{"issue":"1","key":"e_1_2_5_7_1","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1515\/cclm-2012-0601","article-title":"Clinical applications of maternal plasma fetal DNA analysis","volume":"51","author":"Chiu RWK","year":"2013","journal-title":"Clin Chem Lab Med"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)02174-0"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2008.01670.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.39518.463206.25"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02767-7"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)11086-5"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0403962101"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0051024"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3864"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2009.07.017"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2008.01173.x"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2012.03.004"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4018"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2004.01.005"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)02174-0"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/301800"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2006.06357.x"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1067\/mob.2003.27"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(03)00224-9"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.trsl.2007.06.006"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2007.12.019"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4196","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4196","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.4196","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T21:13:07Z","timestamp":1698700387000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.4196"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,23]]},"references-count":26,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["10.1002\/pd.4196"],"URL":"https:\/\/doi.org\/10.1002\/pd.4196","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,23]]}}}