Analysis of first-trimester combined test results in preparation for a cell-free fetal DNA era

作者：Kose Semir^*; Cimrin Dilek; Yildirim Nuri; Aksel Ozge; Keskinoglu Pembe; Bora Elcin; Cankaya Tufan; Altunyurt Sabahattin

来源：International Journal of Gynecology & Obstetrics, 2016, 135(2): 187-191.

DOI：10.1016/j.ijgo.2016.05.014

• Cell-free fetal DNA
• First-trimester combined test
• Invasive diagnostic test
• Noninvasive prenatal testing
• Trisomy 21

Objective: To survey experience with the first-trimester combined test (FCT) for trisomy 21 (T21) in different risk score groups to determine the most useful clinical application of cell-free fetal DNA (cffDNA) screening. Methods: In a retrospective study, the records of FCT results obtained at a center in Turkey between January 2009 and January 2014 were reviewed. The FCT results and rates of uptake of invasive diagnostic testing were compared among different risk score groups. Results: FCT results were available for 4804 pregnancies; 276 (5.7%) had IDT results. Ten (72.7%) of 11 cases of T21 had a risk score of 1:300 or more. The IDT uptake rates were 54.5%, 51.9%, and 47.4% at risk scores of 1:100 or more, 1:200 or more, and 1:300 or more, respectively. In the group at intermediate risk (1:1001-1:3000), no pregnancy had an FCT result of both low pregnancy associated plasma protein A and high free beta-human chorionic gonadotropin, but 30 (3.9%) of 766 pregnancies had both advanced maternal age and high beta-human chorionic gonadotropin. Conclusion: cffDNA screening should be used to optimize IDT uptake in pregnancies with a risk score of 1:101-1:1000. The selective power of the FCT diminishes beyond the 1:1001 score and cffDNA screening cannot yet be recommended routinely.

• 出版日期2016-11