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Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies.
Ultrasound Obstet Gynecol 2015; 45(1):61-6UO

Abstract

OBJECTIVES

To report clinical implementation of cell-free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test.

METHODS

cfDNA testing was performed in 515 twin pregnancies at 10-28 weeks' gestation. The failure rate of the test to provide results was compared with that in 1847 singleton pregnancies, and logistic regression analysis was used to determine which factors among maternal and pregnancy characteristics were significant predictors of test failure.

RESULTS

Failure rate of the cfDNA test at first sampling was 1.7% in singletons and 5.6% in twins. Of those with a test result, the median fetal fraction in twins was 8.7% (range, 4.1-30.0%), which was lower than that in singletons (11.7% (range, 4.0-38.9%)). Multivariable regression analysis demonstrated that twin pregnancy, higher maternal weight and conception by in-vitro fertilization provided significant independent prediction of test failure. Follow-up was available in 351 (68.2%) of the twin pregnancies and comprised 334 with euploid fetuses, 12 discordant for trisomy 21 and five discordant for trisomy 18. In all 323 euploid cases with a result, the risk score for each trisomy was < 1:10 000. In 11 of the 12 cases with trisomy 21 and in the five with trisomy 18, the cfDNA test gave a high-risk result, but in one case of trisomy 21, the score was < 1:10 000.

CONCLUSION

In twin pregnancies screening by cfDNA testing is feasible, but the failure rate is higher and detection rate may be lower than in singletons.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, University Hospital Brugmann, Brussels, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

25297464

Citation

Bevilacqua, E, et al. "Performance of Screening for Aneuploidies By Cell-free DNA Analysis of Maternal Blood in Twin Pregnancies." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 45, no. 1, 2015, pp. 61-6.
Bevilacqua E, Gil MM, Nicolaides KH, et al. Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. Ultrasound Obstet Gynecol. 2015;45(1):61-6.
Bevilacqua, E., Gil, M. M., Nicolaides, K. H., Ordoñez, E., Cirigliano, V., Dierickx, H., ... Jani, J. C. (2015). Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 45(1), pp. 61-6. doi:10.1002/uog.14690.
Bevilacqua E, et al. Performance of Screening for Aneuploidies By Cell-free DNA Analysis of Maternal Blood in Twin Pregnancies. Ultrasound Obstet Gynecol. 2015;45(1):61-6. PubMed PMID: 25297464.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. AU - Bevilacqua,E, AU - Gil,M M, AU - Nicolaides,K H, AU - Ordoñez,E, AU - Cirigliano,V, AU - Dierickx,H, AU - Willems,P J, AU - Jani,J C, Y1 - 2014/12/04/ PY - 2014/09/23/received PY - 2014/09/25/accepted PY - 2014/10/10/entrez PY - 2014/10/10/pubmed PY - 2015/9/15/medline KW - aneuploidies KW - cell-free DNA KW - screening test KW - trisomies KW - twin pregnancies SP - 61 EP - 6 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 45 IS - 1 N2 - OBJECTIVES: To report clinical implementation of cell-free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test. METHODS: cfDNA testing was performed in 515 twin pregnancies at 10-28 weeks' gestation. The failure rate of the test to provide results was compared with that in 1847 singleton pregnancies, and logistic regression analysis was used to determine which factors among maternal and pregnancy characteristics were significant predictors of test failure. RESULTS: Failure rate of the cfDNA test at first sampling was 1.7% in singletons and 5.6% in twins. Of those with a test result, the median fetal fraction in twins was 8.7% (range, 4.1-30.0%), which was lower than that in singletons (11.7% (range, 4.0-38.9%)). Multivariable regression analysis demonstrated that twin pregnancy, higher maternal weight and conception by in-vitro fertilization provided significant independent prediction of test failure. Follow-up was available in 351 (68.2%) of the twin pregnancies and comprised 334 with euploid fetuses, 12 discordant for trisomy 21 and five discordant for trisomy 18. In all 323 euploid cases with a result, the risk score for each trisomy was < 1:10 000. In 11 of the 12 cases with trisomy 21 and in the five with trisomy 18, the cfDNA test gave a high-risk result, but in one case of trisomy 21, the score was < 1:10 000. CONCLUSION: In twin pregnancies screening by cfDNA testing is feasible, but the failure rate is higher and detection rate may be lower than in singletons. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/25297464/Performance_of_screening_for_aneuploidies_by_cell_free_DNA_analysis_of_maternal_blood_in_twin_pregnancies_ L2 - https://doi.org/10.1002/uog.14690 DB - PRIME DP - Unbound Medicine ER -