A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening
Objective: To assess the results of the first trimester combined test to design a prenatal protocol for the introduction of the cell-free fetal DNA test as a contingent screening model. Method: An observational retrospective study in 12,327 singleton pregnancies to analyze the results of the combine...
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2019-01-01T00:00:00Z.
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| 001 | doaj_5c1b1b06c6e94d82b4023d1b9bec2296 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Carmen Cotarelo-Pérez |e author |
| 700 | 1 | 0 | |a Raluca Oancea-Ionescu |e author |
| 700 | 1 | 0 | |a Eloy Asenjo- |e author |
| 700 | 1 | 0 | |a Dolores Ortega- |e author |
| 700 | 1 | 0 | |a Patricia Soler-Ruiz |e author |
| 700 | 1 | 0 | |a Pluvio Coronado-Martín |e author |
| 700 | 1 | 0 | |a María Fenollar-Cortés |e author |
| 245 | 0 | 0 | |a A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening |
| 260 | |b Elsevier, |c 2019-01-01T00:00:00Z. | ||
| 500 | |a 2590-1613 | ||
| 500 | |a 10.1016/j.eurox.2019.100002 | ||
| 520 | |a Objective: To assess the results of the first trimester combined test to design a prenatal protocol for the introduction of the cell-free fetal DNA test as a contingent screening model. Method: An observational retrospective study in 12,327 singleton pregnancies to analyze the results of the combined first trimester screening, the nuchal translucency ≥97.5 percentile, their cytogenetic results and birth outcomes. Results: A total of 533 (4.3%) pregnant women had a risk in combined first trimester screening above 1/300. In this group, sixty nine had an unbalanced karyotype. The abnormal/normal karyotype ratio was 1/28 in pregnant women with intermediate risk (1/51-1/300) for trisomy 21 and trisomy 18, 1/58 with intermediate risk just for trisomy 21 and 1/37 with intermediate risk just for trisomy 18. A 19.8% of the unbalanced karyotypes had chromosomal abnormalities other than trisomies 21, 18 and 13. Two false negatives cases at first trimester combined screening presented a nuchal translucency ≥ p97.5th. Conclusion: We propose the introduction of the cell-free fetal DNA test when the risk of first trimester combined screening is intermediate (1/51-1/300) and when nuchal translucency is ≥ p97.5th with a low risk in the combined screening. This policy would allow us to continue to detect uncommon chromosomal abnormalities. Keywords: Cell-free fetal DNA test, Chromosomal abnormalities, Aneuploidy, First trimester combined screening, Contingent model | ||
| 546 | |a EN | ||
| 690 | |a Gynecology and obstetrics | ||
| 690 | |a RG1-991 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n European Journal of Obstetrics & Gynecology and Reproductive Biology: X, Vol 1, Iss , Pp - (2019) | |
| 787 | 0 | |n http://www.sciencedirect.com/science/article/pii/S2590161319300018 | |
| 787 | 0 | |n https://doaj.org/toc/2590-1613 | |
| 856 | 4 | 1 | |u https://doaj.org/article/5c1b1b06c6e94d82b4023d1b9bec2296 |z Connect to this object online. |