Accuracy of the Combined First Trimester Down Syndrome Screening Test and the Optimum Range of the Cut-off Point for Intermediate-risk Identification: Twelve years’ experience

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Published: May 2, 2024
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combined first-trimester cut-off point Down syndrome intermediate risk screening

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Thanapa Rekhawasin Pinnington
Department of Obstetrics and Gynecology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
Jenjira Arthan
Department of Obstetrics and Gynecology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
Chulaluk Komoltri
Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Pharuhas Chanprapaph
Department of Obstetrics and Gynecology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand

Abstract

Objectives: This study aimed to determine the performance of the combined first trimester Down syndrome screening test and the appropriate cut-off points for intermediate-risk identification.
Materials and Methods: This was a retrospective study conducted from May 2019 to May 2021. All the medical charts of women with singleton pregnancy who had a first-trimester combined screening test performed between 2007 - 2018 were reviewed. A total of 3,928 women with singleton pregnancy were included in the final analysis. Data regarding neonatal outcomes were recorded, and a telephone follow-up was performed with the women who had given birth elsewhere. Statistical analysis was performed using SPSS version 18.0 software.
Results: With a high-risk cut-off point of 1:250, the test had a sensitivity of 75%, and a specificity and accuracy of 94%. When an intermediate-risk cut-off point between 1:500 and 1:1,000 was applied, the specificity and accuracy increased to 83% - 90%. When using a cut-off point between 1:251 and 1:1,000, the specificity and accuracy was 83%, while the rate of intermediate risk was 11.6%.
Conclusion: Our combined first-trimester screening test had a detection rate of 75%, and a high specificity and accuracy of 94%. The recommended cut-off point for intermediate risk was between 1:251 and 1:1,000, since this offered good specificity and accuracy with an acceptable rate of intermediate risk.

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Pinnington, T. R.; Arthan, J. .; Komoltri, C. .; Chanprapaph, P. Accuracy of the Combined First Trimester Down Syndrome Screening Test and the Optimum Range of the Cut-off Point for Intermediate-Risk Identification: Twelve years’ Experience. Thai J Obstet Gynaecol 2024, 28, 1-8.
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