Objective: To examine the distribution of risks for fetal trisomies after first-trimester combined screening in twins and to investigate different strategies for clinical implementation of cell-free DNA (cfDNA) testing. Methods: We retrospectively analyzed all twin pregnancies undergoing first-trimester combined screening over a 10 years' period. The population was stratified according to various risk cut-offs, and we examined different screening strategies for implementation of cfDNA testing in terms of impact on invasive testing rate, cfDNA test failure rate, and economic costs. Results: We included 572 twin pregnancies: 480 (83.92%) dichorionic and 92 (16.08%) monochorionic. Performing a first-line combined screening and offering cfDNA testing to the group with a risk between 1 in 10 and 1 in 1,000, would lead to an invasive testing rate of 2.45%, and cfDNA testing would be performed in 22.20% of the population. This strategy would be cost-neutral compared to universal combined screening alone. Conclusions: First-trimester combined screening results can be used to stratify twin pregnancies into different risk categories and select those that could be offered cfDNA testing. A contingent screening strategy would substantially decrease the need for invasive testing in twins and it would be cost-neutral compared to combined testing alone.
Screening for Common Fetal Trisomies in Twin Pregnancies : First-Trimester Combined, Cell-Free DNA, or Both? / L. Pasquini, I. Ponziani, E. Periti, L. Marchi, C. Luchi, V. Accurti, F. D'Ambrosi, N. Persico. - In: FETAL DIAGNOSIS AND THERAPY. - ISSN 1015-3837. - 46:4(2019 Oct), pp. 217-222. [10.1159/000494055]
Screening for Common Fetal Trisomies in Twin Pregnancies : First-Trimester Combined, Cell-Free DNA, or Both?
F. D'Ambrosi;N. Persico
2019
Abstract
Objective: To examine the distribution of risks for fetal trisomies after first-trimester combined screening in twins and to investigate different strategies for clinical implementation of cell-free DNA (cfDNA) testing. Methods: We retrospectively analyzed all twin pregnancies undergoing first-trimester combined screening over a 10 years' period. The population was stratified according to various risk cut-offs, and we examined different screening strategies for implementation of cfDNA testing in terms of impact on invasive testing rate, cfDNA test failure rate, and economic costs. Results: We included 572 twin pregnancies: 480 (83.92%) dichorionic and 92 (16.08%) monochorionic. Performing a first-line combined screening and offering cfDNA testing to the group with a risk between 1 in 10 and 1 in 1,000, would lead to an invasive testing rate of 2.45%, and cfDNA testing would be performed in 22.20% of the population. This strategy would be cost-neutral compared to universal combined screening alone. Conclusions: First-trimester combined screening results can be used to stratify twin pregnancies into different risk categories and select those that could be offered cfDNA testing. A contingent screening strategy would substantially decrease the need for invasive testing in twins and it would be cost-neutral compared to combined testing alone.File | Dimensione | Formato | |
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