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

Main Article Content

Thanapa Rekhawasin Pinnington
Jenjira Arthan
Chulaluk Komoltri
Pharuhas Chanprapaph

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.

Article Details

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(1)
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, 32, 269-277.
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Original Article

References

Committee on Practice Bulletins-Obstetrics CoG, the Society for Maternal-Fetal M. Practice Bulletin No. 163: Screening for fetal aneuploidy. Obstet Gynecol 2016;127:e123-37.

Jaruratanasirikul S, Kor-Anantakul O, Chowvichian M, Limpitikul W, Dissaneevate P, Intharasangkanawin N, et al. A population-based study of prevalence of Down syndrome in Southern Thailand. World J Pediatr 2017;13:63-9.

Guanciali-Franchi P, Iezzi I, Soranno A, de Volo CP, Alfonsi M, Calabrese G, et al. Optimal cut-offs for Down syndrome contingent screening in a population of 10,156 pregnant women. Prenat Diagn 2012;32:1147-50.

Crossley JA, Aitken DA, Cameron AD, McBride E, Connor JM. Combined ultrasound and biochemical screening for Down’s syndrome in the first trimester: a Scottish multicentre study. BJOG 2002;109:667-76.

Lan RY, Chou CT, Wang PH, Chen RC, Hsiao CH. Trisomy 21 screening based on first and second trimester in a Taiwanese population. Taiwan J Obstet Gynecol 2018;57:551-4.

Maxwell S, James I, Dickinson JE, O’Leary P. First trimester screening cut-offs for noninvasive prenatal testing as a contingent screen: Balancing detection and screen-positive rates for trisomy 21. Aust N Z J Obstet Gynaecol 2016;56:29-35.

Park SY, Jang IA, Lee MA, Kim YJ, Chun SH, Park MH. Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy. Obstet Gynecol Sci 2016;59:357-66.

Schielen PC, Wildschut HI, Loeber JG. Down syndrome screening: determining the cutoff level of risk for invasive testing. Prenat Diagn 2009;29:190-2.

Soergel P, Pruggmayer M, Schwerdtfeger R, Muhlhaus K, Scharf A. Screening for trisomy 21 with maternal age, fetal nuchal translucency and maternal serum biochemistry at 11-14 weeks: a regional experience from Germany. Fetal Diagn Ther 2006;21:264-8.

Spencer K, Spencer CE, Power M, Dawson C, Nicolaides KH. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience. BJOG 2003;110:281-6.

Manotaya S, Zitzler J, Li X, Wibowo N, Pham TM, Kang MS, et al. Effect of ethnicity on first trimester biomarkers for combined trisomy 21 screening: results from a multicenter study in six Asian countries. Prenat Diagn 2015;35:735-40.

Spencer K, Ong CY, Liao AW, Nicolaides KH. The influence of ethnic origin on first trimester biochemical markers of chromosomal abnormalities. Prenat Diagn 2000;20:491-4.

Leung TY, Spencer K, Leung TN, Fung TY, Lau TK. Higher median levels of free beta-hCG and PAPP-A in the first trimester of pregnancy in a Chinese ethnic group. Implication for first trimester combined screening for Down’s syndrome in the Chinese population. Fetal Diagn Ther 2006;21:140-3.

Luewan S, Sirichotiyakul S, Yanase Y, Traisrisilp K, Tongsong T. Median levels of serum biomarkers of fetal Down syndrome detected during the first trimester among pregnant Thai women. Int J Gynaecol Obstet 2012;117:140-3.

Kor-Anantakul O, Suntharasaj T, Suwanrath C, Hanprasertpong T, Pranpanus S, Pruksanusak N, et al. Normative weight-adjusted models for the median levels of first trimester serum biomarkers for trisomy 21 screening in a specific ethnicity. PLoS One 2017;12:e0182538.

Luo W, He B, Han D, Yuan L, Chen X, Pang L, et al. A retrospective analysis of different contingent screening models for fetal Down syndrome In southwestern China. Sci Rep 2020;10:9457.

Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, et al. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med 2005;353:2001-11.

Santorum M, Wright D, Syngelaki A, Karagioti N, Nicolaides KH. Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstet Gynecol 2017;49:714-20.

Li SW, Barrett AN, Gole L, Tan WC, Biswas A, Tan HK, et al. The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort. Singapore Med J 2015;56:47-52.

Charoenratana C, Wanapirak C, Sirichotiyakul S, Tongprasert F, Srisupundit K, Luewan S, et al. Optimal risk cut-offs for Down syndrome contingent maternal serum screening. J Matern Fetal Neonatal Med 2018;31:3009-13.

Gil MM, Revello R, Poon LC, Akolekar R, Nicolaides KH. Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test. Ultrasound Obstet Gynecol 2016;47:45-52.

Schmid M, Klaritsch P, Arzt W, Burkhardt T, Duba HC, Hausler M, et al. Cell-Free DNA testing for fetal chromosomal anomalies in clinical practice: Austrian-German-Swiss Recommendations for non-invasive prenatal tests (NIPT). Ultraschall Med 2015;36:507-10.

Lund IC, Christensen R, Petersen OB, Vogel I, Vestergaard EM. Chromosomal microarray in fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol 2015;45:95-100.

Yoshida S, Miura K, Yamasaki K, Miura S, Shimada T, Tanigawa T, et al. Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan J Hum Genet 2008;53:688-93.

Chanprapaph P, Dulyakasem C, Phattanchindakun B. Sensitivity of multiple first trimester sonomarkers in fetal aneuploidy detection. J Perinat Med 2015;43:359-65.