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Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks.
Ultrasound Obstet Gynecol 2015; 45(1):36-41UO

Abstract

OBJECTIVE

To examine in a general population the performance of cell-free DNA (cfDNA) testing for trisomies 21, 18 and 13 at 10-11 weeks' gestation and compare it to that of the combined test at 11-13 weeks.

METHODS

In 2905 singleton pregnancies, prospective screening for trisomies was performed by chromosome-selective sequencing of cfDNA in maternal blood at 10-11 weeks' gestation and by the combined test at 11-13 weeks' gestation.

RESULTS

Median maternal age of the study population was 36.9 (range, 20.4-51.9) years. Results from cfDNA analysis were provided for 2851 (98.1%) cases and these were available within 14 days from sampling in 2848 (98.0%) cases. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or clinical examination of the neonates. Of the 2785 pregnancies with a cfDNA result and known trisomic status, cfDNA testing correctly identified all 32 cases with trisomy 21, nine of 10 with trisomy 18 and two of five with trisomy 13, with false-positive rates of 0.04%, 0.19% and 0.07%, respectively. In cases with discordant results between cfDNA testing and fetal karyotype, the median fetal fraction was lower than in those with concordant results (6% vs 11%). Using the combined test, the estimated risk for trisomy 21 was ≥ 1/100 in all trisomic cases and in 4.4% of the non-trisomic pregnancies.

CONCLUSION

The performance of first-trimester cfDNA testing for trisomies 21 and 18 in the general population is similar to that in high-risk pregnancies. Most false-positive and false-negative results from cfDNA testing could be avoided if the a priori risk from the combined test is taken into account in the interpretation of individual risk.

Authors+Show Affiliations

Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

25251385

Citation

Quezada, M S., et al. "Screening for Trisomies 21, 18 and 13 By Cell-free DNA Analysis of Maternal Blood at 10-11 Weeks' Gestation and the Combined Test at 11-13 Weeks." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 45, no. 1, 2015, pp. 36-41.
Quezada MS, Gil MM, Francisco C, et al. Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks. Ultrasound Obstet Gynecol. 2015;45(1):36-41.
Quezada, M. S., Gil, M. M., Francisco, C., Oròsz, G., & Nicolaides, K. H. (2015). Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 45(1), pp. 36-41. doi:10.1002/uog.14664.
Quezada MS, et al. Screening for Trisomies 21, 18 and 13 By Cell-free DNA Analysis of Maternal Blood at 10-11 Weeks' Gestation and the Combined Test at 11-13 Weeks. Ultrasound Obstet Gynecol. 2015;45(1):36-41. PubMed PMID: 25251385.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks. AU - Quezada,M S, AU - Gil,M M, AU - Francisco,C, AU - Oròsz,G, AU - Nicolaides,K H, Y1 - 2014/11/20/ PY - 2014/09/16/received PY - 2014/09/16/accepted PY - 2014/9/25/entrez PY - 2014/9/25/pubmed PY - 2015/9/15/medline KW - cell-free DNA KW - combined test KW - fetal fraction KW - first trimester KW - prenatal diagnosis KW - screening KW - trisomies SP - 36 EP - 41 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 - OBJECTIVE: To examine in a general population the performance of cell-free DNA (cfDNA) testing for trisomies 21, 18 and 13 at 10-11 weeks' gestation and compare it to that of the combined test at 11-13 weeks. METHODS: In 2905 singleton pregnancies, prospective screening for trisomies was performed by chromosome-selective sequencing of cfDNA in maternal blood at 10-11 weeks' gestation and by the combined test at 11-13 weeks' gestation. RESULTS: Median maternal age of the study population was 36.9 (range, 20.4-51.9) years. Results from cfDNA analysis were provided for 2851 (98.1%) cases and these were available within 14 days from sampling in 2848 (98.0%) cases. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or clinical examination of the neonates. Of the 2785 pregnancies with a cfDNA result and known trisomic status, cfDNA testing correctly identified all 32 cases with trisomy 21, nine of 10 with trisomy 18 and two of five with trisomy 13, with false-positive rates of 0.04%, 0.19% and 0.07%, respectively. In cases with discordant results between cfDNA testing and fetal karyotype, the median fetal fraction was lower than in those with concordant results (6% vs 11%). Using the combined test, the estimated risk for trisomy 21 was ≥ 1/100 in all trisomic cases and in 4.4% of the non-trisomic pregnancies. CONCLUSION: The performance of first-trimester cfDNA testing for trisomies 21 and 18 in the general population is similar to that in high-risk pregnancies. Most false-positive and false-negative results from cfDNA testing could be avoided if the a priori risk from the combined test is taken into account in the interpretation of individual risk. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/25251385/Screening_for_trisomies_21_18_and_13_by_cell_free_DNA_analysis_of_maternal_blood_at_10_11_weeks'_gestation_and_the_combined_test_at_11_13_weeks_ L2 - https://doi.org/10.1002/uog.14664 DB - PRIME DP - Unbound Medicine ER -