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Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies.
Fetal Diagn Ther 2014; 35(3):204-11FD

Abstract

OBJECTIVE

To examine the clinical implementation of chromosome-selective sequencing of cell-free DNA (cfDNA) in maternal blood and an algorithm that relies on the lower fetal fraction contribution of the 2 fetuses in the assessment of risk for trisomies in twin pregnancies.

METHODS

Risk for trisomies 21, 18 and 13 by cfDNA testing were estimated in stored plasma samples obtained at 11-13 weeks' gestation from 207 pregnancies with known outcome and prospectively in 68 twin pregnancies undergoing screening at 10-13 weeks.

RESULTS

Risk scores for trisomies were provided for 192 (92.8%) of stored plasma and for 63 (92.6%) of the prospective cases. In the retrospective study, 10 of 11 trisomic pregnancies were correctly identified with no false positive results. In the prospective study, 3 trisomic pregnancies were correctly identified with no false positive results. The median of the lower fetal fraction in the prospective study of twins was 7.4% (IQR range 5.9-10.0%), which was lower than in our previous study in singletons (median 10.0%, IQR 7.8-13.0%).

CONCLUSIONS

cfDNA testing in twins is feasible but the reporting rate of results is lower than in singletons due to a lower fetal fraction.

Authors+Show Affiliations

Harris Birthright Research Centre of 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
Twin Study

Language

eng

PubMed ID

24247435

Citation

del Mar Gil, Maria, et al. "Cell-free DNA Analysis for Trisomy Risk Assessment in First-trimester Twin Pregnancies." Fetal Diagnosis and Therapy, vol. 35, no. 3, 2014, pp. 204-11.
del Mar Gil M, Quezada MS, Bregant B, et al. Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies. Fetal Diagn Ther. 2014;35(3):204-11.
del Mar Gil, M., Quezada, M. S., Bregant, B., Syngelaki, A., & Nicolaides, K. H. (2014). Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies. Fetal Diagnosis and Therapy, 35(3), pp. 204-11. doi:10.1159/000356495.
del Mar Gil M, et al. Cell-free DNA Analysis for Trisomy Risk Assessment in First-trimester Twin Pregnancies. Fetal Diagn Ther. 2014;35(3):204-11. PubMed PMID: 24247435.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies. AU - del Mar Gil,Maria, AU - Quezada,Maria Soledad, AU - Bregant,Barbara, AU - Syngelaki,Argyro, AU - Nicolaides,Kypros H, Y1 - 2013/11/15/ PY - 2013/09/12/received PY - 2013/10/21/accepted PY - 2013/11/20/entrez PY - 2013/11/20/pubmed PY - 2015/2/7/medline SP - 204 EP - 11 JF - Fetal diagnosis and therapy JO - Fetal. Diagn. Ther. VL - 35 IS - 3 N2 - OBJECTIVE: To examine the clinical implementation of chromosome-selective sequencing of cell-free DNA (cfDNA) in maternal blood and an algorithm that relies on the lower fetal fraction contribution of the 2 fetuses in the assessment of risk for trisomies in twin pregnancies. METHODS: Risk for trisomies 21, 18 and 13 by cfDNA testing were estimated in stored plasma samples obtained at 11-13 weeks' gestation from 207 pregnancies with known outcome and prospectively in 68 twin pregnancies undergoing screening at 10-13 weeks. RESULTS: Risk scores for trisomies were provided for 192 (92.8%) of stored plasma and for 63 (92.6%) of the prospective cases. In the retrospective study, 10 of 11 trisomic pregnancies were correctly identified with no false positive results. In the prospective study, 3 trisomic pregnancies were correctly identified with no false positive results. The median of the lower fetal fraction in the prospective study of twins was 7.4% (IQR range 5.9-10.0%), which was lower than in our previous study in singletons (median 10.0%, IQR 7.8-13.0%). CONCLUSIONS: cfDNA testing in twins is feasible but the reporting rate of results is lower than in singletons due to a lower fetal fraction. SN - 1421-9964 UR - https://www.unboundmedicine.com/medline/citation/24247435/Cell_free_DNA_analysis_for_trisomy_risk_assessment_in_first_trimester_twin_pregnancies_ L2 - https://www.karger.com?DOI=10.1159/000356495 DB - PRIME DP - Unbound Medicine ER -