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Cell-free fetal DNA analysis in maternal plasma as screening test for trisomies 21, 18 and 13 in twin pregnancy.
Ultrasound Obstet Gynecol 2018; 52(3):318-324UO

Abstract

OBJECTIVES

To evaluate in twin pregnancy the utility of non-invasive prenatal testing using circulating cell-free fetal DNA (cfDNA) in screening for the three main autosomal fetal trisomies.

METHODS

cfDNA testing was offered to 492 patients with a twin pregnancy without ultrasound anomaly as a first-line screening test or after routine serum screening. Data were collected prospectively and a retrospective analysis was performed. cfDNA analysis was performed by massively parallel sequencing. The fetal-fraction threshold used for test evaluation was 8%. Regression analysis was performed to investigate the effect on the test failure rate of maternal and pregnancy characteristics, and the performance of the test was also reported.

RESULTS

cfDNA analysis was performed as a first-line test (after the first-trimester scan) in 377 patients and following serum screening in 115. Of the 420 pregnancies for which outcome was available and cfDNA screening was assessed, 78.7% were dichorionic-diamniotic. The test failed on the first attempt in 12 (2.9%) pregnancies, and regression analysis demonstrated that only maternal weight was a significant independent predictor of test failure. A result was subsequently achieved in the 10 cases for which a second sample was obtained. cfDNA analysis identified all three cases of trisomy 21 and the only case of trisomy 18. For trisomy 21, the specificity was 99.8% (95% CI, 98.7-100.0%). When considering pregnancies according to whether they were conceived spontaneously or after assisted reproductive technology, there were no significant differences in terms of maternal weight or no-result rate for cfDNA screening between these two groups.

CONCLUSIONS

In twin pregnancy without fetal ultrasound abnormality, cfDNA screening for trisomies 21, 18 and 13 had a high success rate and good performance. Therefore, in routine practice, cfDNA analysis could be considered as a first- or second-line screening test. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Authors+Show Affiliations

Service de Gynécologie-Obstétrique et Médecine de la Reproduction, Hôpital Antoine Béclère, Assistance Publique-Hôpitaux de Paris, Clamart, France. Université Paris Sud, Kremlin Bicêtre, France.Service de Gynécologie-Obstétrique et Médecine de la Reproduction, Hôpital Antoine Béclère, Assistance Publique-Hôpitaux de Paris, Clamart, France. Université Paris Sud, Kremlin Bicêtre, France.Department of Obstetrics and Gynecology, University Hospital Brugmann, Université Libre de Bruxelles, Brussels, Belgium.Laboratoire CERBA, Saint-Ouen l'Aumône, France.Laboratoire CERBA, Saint-Ouen l'Aumône, France.Laboratoire CERBA, Saint-Ouen l'Aumône, France.Service de Gynécologie-Obstétrique et Médecine de la Reproduction, Hôpital Antoine Béclère, Assistance Publique-Hôpitaux de Paris, Clamart, France. Université Paris Sud, Kremlin Bicêtre, France.

Pub Type(s)

Evaluation Studies
Journal Article

Language

eng

PubMed ID

28833712

Citation

Le Conte, G, et al. "Cell-free Fetal DNA Analysis in Maternal Plasma as Screening Test for Trisomies 21, 18 and 13 in Twin Pregnancy." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 52, no. 3, 2018, pp. 318-324.
Le Conte G, Letourneau A, Jani J, et al. Cell-free fetal DNA analysis in maternal plasma as screening test for trisomies 21, 18 and 13 in twin pregnancy. Ultrasound Obstet Gynecol. 2018;52(3):318-324.
Le Conte, G., Letourneau, A., Jani, J., Kleinfinger, P., Lohmann, L., Costa, J. M., & Benachi, A. (2018). Cell-free fetal DNA analysis in maternal plasma as screening test for trisomies 21, 18 and 13 in twin pregnancy. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 52(3), pp. 318-324. doi:10.1002/uog.18838.
Le Conte G, et al. Cell-free Fetal DNA Analysis in Maternal Plasma as Screening Test for Trisomies 21, 18 and 13 in Twin Pregnancy. Ultrasound Obstet Gynecol. 2018;52(3):318-324. PubMed PMID: 28833712.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cell-free fetal DNA analysis in maternal plasma as screening test for trisomies 21, 18 and 13 in twin pregnancy. AU - Le Conte,G, AU - Letourneau,A, AU - Jani,J, AU - Kleinfinger,P, AU - Lohmann,L, AU - Costa,J-M, AU - Benachi,A, Y1 - 2018/08/13/ PY - 2017/03/31/received PY - 2017/07/11/revised PY - 2017/08/09/accepted PY - 2017/8/24/pubmed PY - 2018/12/19/medline PY - 2017/8/24/entrez KW - cell-free DNA KW - non-invasive prenatal testing KW - twin pregnancy SP - 318 EP - 324 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 52 IS - 3 N2 - OBJECTIVES: To evaluate in twin pregnancy the utility of non-invasive prenatal testing using circulating cell-free fetal DNA (cfDNA) in screening for the three main autosomal fetal trisomies. METHODS: cfDNA testing was offered to 492 patients with a twin pregnancy without ultrasound anomaly as a first-line screening test or after routine serum screening. Data were collected prospectively and a retrospective analysis was performed. cfDNA analysis was performed by massively parallel sequencing. The fetal-fraction threshold used for test evaluation was 8%. Regression analysis was performed to investigate the effect on the test failure rate of maternal and pregnancy characteristics, and the performance of the test was also reported. RESULTS: cfDNA analysis was performed as a first-line test (after the first-trimester scan) in 377 patients and following serum screening in 115. Of the 420 pregnancies for which outcome was available and cfDNA screening was assessed, 78.7% were dichorionic-diamniotic. The test failed on the first attempt in 12 (2.9%) pregnancies, and regression analysis demonstrated that only maternal weight was a significant independent predictor of test failure. A result was subsequently achieved in the 10 cases for which a second sample was obtained. cfDNA analysis identified all three cases of trisomy 21 and the only case of trisomy 18. For trisomy 21, the specificity was 99.8% (95% CI, 98.7-100.0%). When considering pregnancies according to whether they were conceived spontaneously or after assisted reproductive technology, there were no significant differences in terms of maternal weight or no-result rate for cfDNA screening between these two groups. CONCLUSIONS: In twin pregnancy without fetal ultrasound abnormality, cfDNA screening for trisomies 21, 18 and 13 had a high success rate and good performance. Therefore, in routine practice, cfDNA analysis could be considered as a first- or second-line screening test. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/28833712/Cell_free_fetal_DNA_analysis_in_maternal_plasma_as_screening_test_for_trisomies_21_18_and_13_in_twin_pregnancy_ L2 - https://doi.org/10.1002/uog.18838 DB - PRIME DP - Unbound Medicine ER -