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Routine first-trimester screening for fetal trisomies in twin pregnancy: cell-free DNA test contingent on results from combined test.
Ultrasound Obstet Gynecol 2019; 53(2):208-213UO

Abstract

OBJECTIVE

To report on the routine clinical implementation of cell-free DNA (cfDNA) analysis of maternal blood for trisomies 21, 18 and 13, contingent on the results of the first-trimester combined test in twin pregnancy.

METHODS

Screening for trisomies 21, 18 and 13 was carried out in 959 twin pregnancies by assessment of a combination of maternal age, fetal nuchal translucency thickness, and serum free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A at 11-13 weeks' gestation in two UK NHS hospitals. Women in the high-risk group (risk ≥ 1 in 100) were offered the option of invasive testing, cfDNA testing or no further testing, and those in the intermediate-risk group (risk 1 in 101 to 1 in 2500 in the first phase of the study and 1 in 101 to 1 in 500 in the second phase) were offered cfDNA or no further testing. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or examination of the neonates.

RESULTS

In 42 (4.4%) of the 959 pregnancies, there was termination, miscarriage or stillbirth with no known karyotype or there was loss to follow-up. The 917 pregnancies with known trisomic status of both twins included six that were discordant for trisomy 21, four that were discordant for trisomy 18 and 907 with no trisomy 21, 18 or 13. Following combined screening, 47 (5.1%), 203 (22.1%) and 667 (72.7%) of the pregnancies were classified as high risk, intermediate risk and low risk, respectively. The high-risk group included five (83.3%) cases of trisomy 21 and three (75.0%) of trisomy 18. The cfDNA test was carried out in 224 pregnancies and results were provided in 214 (95.5%); this group included six pregnancies with trisomy 21, three with trisomy 18 and 206 with no trisomy 21, 18 or 13. The cfDNA test classified correctly as screen positive all six cases of trisomy 21 and two of the three with trisomy 18, and as screen negative for each of the trisomies all 206 unaffected pregnancies. Contingent screening led to prenatal detection of all cases of trisomy 21 and three of four with trisomy 18.

CONCLUSION

This study has demonstrated the feasibility of introducing cfDNA testing, contingent on the results of the first-trimester combined test for major trisomies, in a routine population of twin pregnancies. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Authors+Show Affiliations

Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK. Department of Fetal Medicine, Medway Maritime Hospital, Gillingham, UK.Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK. Universidad Francisco de Vitoria, UFV, Pozuelo de Alarcón, Madrid, Spain.Department of Fetal Medicine, Medway Maritime Hospital, Gillingham, UK.Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.

Pub Type(s)

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

Language

eng

PubMed ID

30353581

Citation

Galeva, S, et al. "Routine First-trimester Screening for Fetal Trisomies in Twin Pregnancy: Cell-free DNA Test Contingent On Results From Combined Test." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 53, no. 2, 2019, pp. 208-213.
Galeva S, Konstantinidou L, Gil MM, et al. Routine first-trimester screening for fetal trisomies in twin pregnancy: cell-free DNA test contingent on results from combined test. Ultrasound Obstet Gynecol. 2019;53(2):208-213.
Galeva, S., Konstantinidou, L., Gil, M. M., Akolekar, R., & Nicolaides, K. H. (2019). Routine first-trimester screening for fetal trisomies in twin pregnancy: cell-free DNA test contingent on results from combined test. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 53(2), pp. 208-213. doi:10.1002/uog.20160.
Galeva S, et al. Routine First-trimester Screening for Fetal Trisomies in Twin Pregnancy: Cell-free DNA Test Contingent On Results From Combined Test. Ultrasound Obstet Gynecol. 2019;53(2):208-213. PubMed PMID: 30353581.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Routine first-trimester screening for fetal trisomies in twin pregnancy: cell-free DNA test contingent on results from combined test. AU - Galeva,S, AU - Konstantinidou,L, AU - Gil,M M, AU - Akolekar,R, AU - Nicolaides,K H, Y1 - 2018/12/07/ PY - 2018/10/01/received PY - 2018/10/16/accepted PY - 2018/10/26/pubmed PY - 2019/3/20/medline PY - 2018/10/25/entrez KW - cell-free DNA KW - combined test KW - first-trimester screening KW - non-invasive prenatal testing KW - trisomy 13 KW - trisomy 18 KW - trisomy 21 KW - twin pregnancy SP - 208 EP - 213 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 53 IS - 2 N2 - OBJECTIVE: To report on the routine clinical implementation of cell-free DNA (cfDNA) analysis of maternal blood for trisomies 21, 18 and 13, contingent on the results of the first-trimester combined test in twin pregnancy. METHODS: Screening for trisomies 21, 18 and 13 was carried out in 959 twin pregnancies by assessment of a combination of maternal age, fetal nuchal translucency thickness, and serum free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A at 11-13 weeks' gestation in two UK NHS hospitals. Women in the high-risk group (risk ≥ 1 in 100) were offered the option of invasive testing, cfDNA testing or no further testing, and those in the intermediate-risk group (risk 1 in 101 to 1 in 2500 in the first phase of the study and 1 in 101 to 1 in 500 in the second phase) were offered cfDNA or no further testing. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or examination of the neonates. RESULTS: In 42 (4.4%) of the 959 pregnancies, there was termination, miscarriage or stillbirth with no known karyotype or there was loss to follow-up. The 917 pregnancies with known trisomic status of both twins included six that were discordant for trisomy 21, four that were discordant for trisomy 18 and 907 with no trisomy 21, 18 or 13. Following combined screening, 47 (5.1%), 203 (22.1%) and 667 (72.7%) of the pregnancies were classified as high risk, intermediate risk and low risk, respectively. The high-risk group included five (83.3%) cases of trisomy 21 and three (75.0%) of trisomy 18. The cfDNA test was carried out in 224 pregnancies and results were provided in 214 (95.5%); this group included six pregnancies with trisomy 21, three with trisomy 18 and 206 with no trisomy 21, 18 or 13. The cfDNA test classified correctly as screen positive all six cases of trisomy 21 and two of the three with trisomy 18, and as screen negative for each of the trisomies all 206 unaffected pregnancies. Contingent screening led to prenatal detection of all cases of trisomy 21 and three of four with trisomy 18. CONCLUSION: This study has demonstrated the feasibility of introducing cfDNA testing, contingent on the results of the first-trimester combined test for major trisomies, in a routine population of twin pregnancies. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/30353581/Routine_first_trimester_screening_for_fetal_trisomies_in_twin_pregnancy:_cell_free_DNA_test_contingent_on_results_from_combined_test_ L2 - https://doi.org/10.1002/uog.20160 DB - PRIME DP - Unbound Medicine ER -