1. A new contingent screening strategy increased detection rate of trisomy 21 in the first trimester.
- Author
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Luo W, He B, Han D, Yuan L, Tang J, Pang L, Zou F, Zhao K, Liu S, and Hu T
- Subjects
- Pregnancy, Humans, Female, Pregnancy Trimester, First, Chorionic Gonadotropin, beta Subunit, Human, Prenatal Diagnosis methods, Retrospective Studies, Nuchal Translucency Measurement, Biomarkers, Pregnancy-Associated Plasma Protein-A analysis, Trisomy, Down Syndrome diagnosis
- Abstract
Background: Although the traditional contingent screening strategy is effective, there are still undetected low-risk trisomy 21. This study aims to define appropriate cut-off values of serum biochemical markers at low-risk and develop a strategy for sequential prenatal testing associated with first-trimester screening to increase the detection rate of trisomy 21., Methods: This was a 9-year retrospective analysis of singleton pregnant women who underwent serum biochemical screening or combined first-trimester screening (CFTS) in the first trimester. For the low-risk group, the cut-off values of the serum biochemical markers were adjusted to determine the appropriate detection efficiency. Gravidas with abnormal serum biochemical markers at low-risk were advised to undergo further non-invasive prenatal screening (NIPS), whereas others continued with routine prenatal care., Results: When cut-off values of free beta subunit of human chorionic gonadotropin (free β-hCG) multiples of the median (MoM) or pregnancy-associated plasma protein A (PAPP-A) MoM were defined with ≥ 2.75 or ≤ 0.5, 7.72% (2,194/28,405) in the serum biochemical screening group and 12.36% (4,005/32,403) in CFTS group could be detected as abnormal results for further NIPS. Finally, 55.56% (5/9) and 85.71% (6/7) of trisomy 21 cases with false-negative results were detected, and the overall detection rate for trisomy 21 was improved by 10.64% (5/47) and 12.77% (6/47), respectively., Conclusions: The new contingent screening strategy can increase the detection rate of trisomy 21 compared with the traditional contingent screening strategy., (© 2023. The Author(s).)
- Published
- 2023
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