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

Kose S., Çımrın D., Yildirim N., Aksel O., Keskinoğlu P., Bora E., ...More

INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS, vol.135, no.2, pp.187-191, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 135 Issue: 2
  • Publication Date: 2016
  • Doi Number: 10.1016/j.ijgo.2016.05.014
  • Journal Name: INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.187-191
  • Keywords: Cell-free fetal DNA, First-trimester combined test, Invasive diagnostic test, Noninvasive prenatal testing, Trisomy 21, DOWN-SYNDROME, NUCHAL TRANSLUCENCY, PERFORMANCE, TRISOMY-21, ABNORMALITIES, ANEUPLOIDY, MARKERS
  • Dokuz Eylül University Affiliated: Yes

Abstract

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. (C) 2016 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.