The Evaluation of Integrated Test as an Antenatal Screening Test for Down's Syndrome in Korea

Dae Young Yi; Bochan Jung; Myung Seo Kang; Ji Young Huh; Jin Young Paek; Dong Hyun Cha; Suk Ho Kang

doi:10.3343/lmo.2011.1.1.3

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Yi, Jung, Kang, Huh, Paek, Cha, and Kang: The Evaluation of Integrated Test as an Antenatal Screening Test for Down's Syndrome in Korea

Original Article

Clinical Chemistry

Laboratory Medicine Online

Laboratory Medicine Online 2011; 1(1): 10-18.

Published online: 1 January 2011

DOI: https://doi.org/10.3343/lmo.2011.1.1.3

The Evaluation of Integrated Test as an Antenatal Screening Test for Down's Syndrome in Korea

Dae Young Yi¹, Bochan Jung¹, Myung Seo Kang¹, Ji Young Huh¹, Jin Young Paek¹, Dong Hyun Cha², Suk Ho Kang²

¹Department of Laboratory Medicine, CHA University, Seongnam, Korea.

²Department of Obstetrics and Gyncology, CHA University, Seongnam, Korea.

Corresponding author: Ji Young Huh. Department of Laboratory Medicine, CHA University, 351 Yatap-dong, Bundang-gu, Seongnam 463-712, Korea. Tel: +82-31-780-5451, Fax: +82-31-780-5476, jiyoungh@cha.ac.kr

Received 18 October 2010 Revised 18 October 2010 Accepted 19 October 2010

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background

Antenatal screening for Down's syndrome has been developed and improved over the past 20 yr. Recently, integrated test, which combines the first and second trimester markers has shown the highest detection rate (DR) and lowest false positive rate (FPR) among Down's syndrome screening tests currently in use. The purposes of this study were to evaluate the screening performance of integrated test and to compare the results with triple test studies in Korea.

Methods

The study population consisted of Korean pregnant women who underwent triple or integrated test between April 2005 and December 2008. Triple test was performed using measurements of alpha-fetoprotein (AFP), unconjugated estriol (uE3), and human chorionic gonadotropin (hCG) in the second trimester. Integrated test was performed using nuchal translucency (NT) by ultrasonography and pregnancy-associated plasma protein A (PAPP-A) from maternal serum in the first trimester, and AFP, uE3, hCG, and inhibin-A in the second trimester. The screening performance of each test was evaluated by DR and FPR.

Results

Twenty-seven Down's syndrome pregnancies were confirmed in women screened by triple (N=6,736) or integrated test (N=7,688). At 1:100, 1:270, and 1:300 of risk cutoff, triple test showed 45%, 73%, and 73% of DR and 4.7%, 11.2%, and 12.4% of FPR, respectively. At 1:100, 1:150, and 1:300 of risk cutoff, integrated test showed 63%, 69%, and 75% of DR and 1.5%, 1.9%, and 3.0% of FPR, respectively.

Conclusions

Integrated test showed higher DR and lower FPR, demonstrating better screening performance than triple test.

Keywords: Down's syndrome, Integrated test, Triple test, Detection rate, False positive rate

Figures and Tables

Fig. 1

Flow chart of screening for Down's syndrome pregnancy by triple test.

Fig. 2

Estimated risk for Down's syndrome pregnancies and selected centiles of unaffected pregnancies in triple test.

Fig. 3

Flow chart of screening for Down's syndrome pregnancy by integrated test.

Fig. 4

Estimated risk for Down's syndrome pregnancies and selected centiles of unaffected pregnancies in integrated test.

Table 1

Demographic characteristics of the women screened for Down's syndrome

^*Data are number of cases (%); ^†Data are range of gestational age (median); ^‡Data are mean (SD).

Abbreviation: NA, not applicable.

Table 2

Screening performance of screening tests according to risk cutoff in the women screened by triple or integrated test

Abbreviations: SPR, screen positive rate; DR, detection rate; FPR, false positive rate; OAPR, odds of being affected given a positive result (true-positives to false-positives).

Table 3

The characteristics of Down's syndrome pregnancies diagnosed by amniocentesis or chorionic villous sampling without any screening tests

Abbreviation: NT, nuchal translucency.

Table 4

Comparison of the screening performance of integrated test in this study with the previous studies

Abbreviations: DR, detection rate; FPR, false positive rate; FASTER, first and second trimester evaluation of risk for fetal aneuploidy; ND, not determined; SURUSS, the serum, urine and ultrasound screening study.

Notes

This study was the first evaluation for integrated test in Koreans and presented at the 50th Annual Meeting of the Korean Society for Laboratory Medicine, Seoul, Korea, 2009.

This article is available from http://www.labmedonline.org

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