Literature DB >> 33984018

Ethnic-specific reference range affects the efficacy of quadruple test as a universal screening for Down syndrome in a developing country.

Savitree Pranpanus1, Ounjai Kor-Anantakul1, Thitima Suntharasaj1, Chitkasaem Suwanrath1, Tharangrut Hanprasertpong1, Ninlapa Pruksanusak1, Chusana Petpichetchian1, Manaphat Suksai1, Natthicha Chainarong1, Rapphon Sawaddisan1.   

Abstract

OBJECTIVE: To evaluate the efficacy of the quadruple test for potential use as a Thai national policy for Down syndrome (DS) screening and establish an accurate equation for risk estimation of Down syndrome based on gestational age, weight and the ethnic-specific reference range of our population.
METHODS: A prospective study was conducted on singleton pregnancies at 14 to 21 weeks of gestation to evaluate the efficacy of quadruple DS screening using the automatically calculated Western European descent factor (WF) in our population and the impact of screening using a specific Thai ethnic factor as well as to establish an equation for the risk estimation of DS based on gestational age, weight and a local Thai ethnic factor to correct for the impact of ethnic factor on the screening efficacy.
RESULTS: Of a total of 5,515 women, 12 cases of DS and 8 cases of other aneuploidies were found. The detection rate, false positive rate and specificity were 75.0%, 9.1% and 90.9%, respectively, by automatic calculation with the widely used WF; the screening efficacy was lower when used in Asian populations than in other studies. The best-fitted regression equation of serum quadruple screening of AFP, free β-hCG, uE3 and inhibin A was established by adjustment for gestational age (GA) in days, maternal weight and our Thai-specific ethnic reference range which was created for this study. Calculations with our Thai-specific ethnic model gave a better detection rate of 83.3%, a false positive rate of 9.6% and specificity of 90.4%.
CONCLUSION: The serum quadruple test had a lower detection rate than expected when the risk estimation was based on the WF reference range. The serum quadruple test using WF had significantly different levels when corrected with our ethnic-specific factor. Using our local ethnic specific model could increase the detection rate of DS screening in Thailand with a minimal increase in false positive rates. Our findings indicate that DS screening should be adjusted with an appropriate individual ethnic factor when used for national screening.

Entities:  

Year:  2021        PMID: 33984018      PMCID: PMC8118253          DOI: 10.1371/journal.pone.0251381

Source DB:  PubMed          Journal:  PLoS One        ISSN: 1932-6203            Impact factor:   3.240


  32 in total

1.  Prenatal diagnosis of Down syndrome: ten year experience in the Israeli population.

Authors:  Mordechai Shohat; Helena Frimer; Vered Shohat-Levy; Hormoz Esmailzadeh; Zvi Appelman; Ziva Ben-Neriah; Hanna Dar; Avi Orr-Urtreger; Aliza Amiel; Ruth Gershoni; Esther Manor; Gad Barkai; Stavit Shalev; Zully Gelman-Kohen; Orit Reish; Dorit Lev; Bella Davidov; Boleslaw Goldman
Journal:  Am J Med Genet A       Date:  2003-10-15       Impact factor: 2.802

2.  Antenatal screening for Down's syndrome with the quadruple test.

Authors:  Nicholas J Wald; Wayne J Huttly; Allan K Hackshaw
Journal:  Lancet       Date:  2003-03-08       Impact factor: 79.321

3.  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.

Authors:  Tak Yeung Leung; Kevin Spencer; Tse Ngong Leung; Tak Yuen Fung; Tze Kin Lau
Journal:  Fetal Diagn Ther       Date:  2006       Impact factor: 2.587

4.  Fewer women aged 35 and older choose serum screening for Down's syndrome: Impact and implications.

Authors:  Geralyn Lambert-Messerlian; Glenn E Palomaki
Journal:  J Med Screen       Date:  2018-09-25       Impact factor: 2.136

Review 5.  Down Syndrome Screening in India: Are We There Yet?

Authors:  K Manikandan; Suresh Seshadri
Journal:  J Obstet Gynaecol India       Date:  2017-08-17

6.  Effect of ethnicity on first trimester biomarkers for combined trisomy 21 screening: results from a multicenter study in six Asian countries.

Authors:  Saknan Manotaya; Juergen Zitzler; Xiaotian Li; Noroyono Wibowo; Thi Mai Pham; Myung Seo Kang; Chien-Nan Lee
Journal:  Prenat Diagn       Date:  2015-05-27       Impact factor: 3.050

7.  First-trimester or second-trimester screening, or both, for Down's syndrome.

Authors:  Fergal D Malone; Jacob A Canick; Robert H Ball; David A Nyberg; Christine H Comstock; Radek Bukowski; Richard L Berkowitz; Susan J Gross; Lorraine Dugoff; Sabrina D Craigo; Ilan E Timor-Tritsch; Stephen R Carr; Honor M Wolfe; Kimberly Dukes; Diana W Bianchi; Alicja R Rudnicka; Allan K Hackshaw; Geralyn Lambert-Messerlian; Nicholas J Wald; Mary E D'Alton
Journal:  N Engl J Med       Date:  2005-11-10       Impact factor: 91.245

8.  Second-trimester maternal serum quadruple test for Down syndrome screening: a Taiwanese population-based study.

Authors:  S W Steven Shaw; Shin-Yu Lin; Chia-Hui Lin; Yi-Ning Su; Po-Jen Cheng; Chien-Nan Lee; Chih-Ping Chen
Journal:  Taiwan J Obstet Gynecol       Date:  2010-03       Impact factor: 1.705

9.  SURUSS in perspective.

Authors:  N J Wald; C Rodeck; A K Hackshaw; A Rudnicka
Journal:  Semin Perinatol       Date:  2005-08       Impact factor: 3.300

10.  Fetal Aneuploidy: Screening and Diagnostic Testing.

Authors:  Nicholas M LeFevre; Richard L Sundermeyer
Journal:  Am Fam Physician       Date:  2020-04-15       Impact factor: 3.292

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  1 in total

1.  Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population.

Authors:  Savitree Pranpanus; Kanokkarn Keatkongkaew; Manaphat Suksai
Journal:  BMC Pregnancy Childbirth       Date:  2022-01-11       Impact factor: 3.007

  1 in total

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