Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies

Manotaya, Saknan; Uerpairojkit, Boonchai; Chen, F.; Charoenvidhya, Dhiraphongs; Liu, H.; Petcharaburanin, N.; Liu, Y.; Tang, Shaoqiang; Wang, X.; Dansakul, S.; Thomsopa, T.; Gao, Ya; Zhang, H.; Hu, Xu; Jiang, Hui

doi:10.1002/pd.4775

Cited by 19 publications

(20 citation statements)

References 20 publications

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“…The detection rate of 75.0%, false‐positive rate of 8.6%, and accuracy of 91.4% confirm the effectiveness of the quadruple test in clinical settings in Thailand. The prevalence of Down syndrome in the project was 1.7 cases in 1000 (1 in 595), which is similar to the national rate of 1.9 cases in 1000, but higher than was found during a Thai study published in 2017 (1.2 cases in 1000) …”

Section: Discussionsupporting

confidence: 70%

“…However, in a previous study in Thailand, measurement of second‐trimester nuchal skinfold thickness showed a poor and unreliable performance in Down syndrome screening. Manotaya et al . recommended that non‐invasive prenatal testing for chromosomal disorders should be offered in Thailand before making a decision to undergo amniocentesis.…”

Section: Introductionmentioning

confidence: 99%

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Prospective study of the feasibility and effectiveness of a second‐trimester quadruple test for Down syndrome in Thailand

Kaewsuksai¹,

Jitsurong

2017

Intl J Gynecology & Obste

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Section: Discussionsupporting

confidence: 70%

Section: Introductionmentioning

confidence: 99%

Prospective study of the feasibility and effectiveness of a second‐trimester quadruple test for Down syndrome in Thailand

Kaewsuksai¹,

Jitsurong

2017

Intl J Gynecology & Obste

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“…Therefore, NIPT is rapidly being employed to detect the fetal chromosome aneuploidies of T21, T18, T13, and SCAs around the world. The American College of Medical Genetics and Genomics (ACMG), along with several other professional associations, has issued statements and guidelines suggesting that NIPT is a screening test to identify pregnancies at risk for common autosomal aneuploidies [8][9][10][11]. In addition, a continuously updated meta-analysis of Gil MM showed that screening by analysis of cfDNA in maternal blood (including NIPT) in singleton pregnancies could detect > 99% of fetuses with T21, 98% of fetuses with T18, and 99% of fetuses with T13 at a combined FPR of 0.13%, and the performance of cfDNA testing for T21 in twin pregnancy is similar to that reported in singleton pregnancy [12,13].…”

Section: Introductionmentioning

confidence: 99%

Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China

Huang

Wang

et al. 2020

J Assist Reprod Genet

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Purpose To evaluate the noninvasive prenatal testing (NIPT) results of 36,913 cases in Jiangxi province of central China and explore its application value in prenatal screening and diagnosis. Methods This retrospective analysis included 36,913 singleton pregnant women who underwent NIPT because of moderate-/high-risk pregnancy or voluntary requirements between January 2017 and December 2019 in our hospital. Chromosomal abnormalities such as trisomies 21, 18, and 13 (T21, T18, T13) and sex chromosome aneuploidies (SCAs) were judged by standard Z-score analysis. Positive NIPT results were confirmed by amniocentesis and karyotyping. Pregnancy outcomes were followed up via telephone interview. Results A total of 1.01% (371/36,913) positive cases were detected by NIPT, comprising 137, 46, 31, and 157 cases of T21, T18, T13, and SCAs, respectively. A total of 116 of T21, 27 of T18, 13 of T13, and 51 of SCAs were confirmed to be true positive; all normal cases that had been followed up were verified to be true negative. The NIPT sensitivity in T21, T18, T13, and SCAs was 100.00% individually, whereas the specificity was 99.94% (36,488/36,509), 99.95% (36,579/36,598), 99.95% (36,594/36,612), and 99.72% (36,472/36,574), respectively. Furthermore, the negative predictive values of T21, T18, T13, and SCAs were all 100%, while the positive predictive values were 84.67%, 58.70%, 41.94%, and 33.33%, respectively. Conclusion NIPT is highly sensitive and has a low false positive rate in testing clinically significant fetal aneuploidies of general reproductive women. However, this technique cannot substitute for amniocentesis and karyotyping, and detailed genetic counseling is also essential for the high-risk group of NIPT.

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“… 13 However, there are few publications on the use of NIPT for SCAs and little clinical experience. 18 …”

Section: Introductionmentioning

confidence: 99%

Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood

Zhang

et al. 2017

J Int Med Res

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ObjectiveTo explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs).MethodsThe study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother’s peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping.ResultsThe study enrolled 10 275 pregnant women who were prepared to undergo NIPT. Of these, 57 pregnant women (0.55%) showed fetal SCA, including 27 with Turner syndrome (45,X), eight with Triple X syndrome (47,XXX), 12 with Klinefelter syndrome (47,XXY) and three with 47,XYY. Thirty-three pregnant women agreed to undergo fetal karyotyping and 18 had results consistent with NIPT, while 15 patients received a normal karyotype result. The overall positive predictive value of NIPT for detecting SCAs was 54.54% (18/33) and for detecting Turner syndrome (45,X) was 29.41% (5/17).ConclusionNIPT can be used to identify fetal SCAs by analysing cffDNA using massively parallel genomic sequencing, although the accuracy needs to be improved particularly for Turner syndrome (45,X).

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Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies

Abstract: With stringent protocol, our prospective large-scale multicenter nationwide study demonstrated that NIPT showed excellent performance as screening tests for the detection of fetal T21, T18, and T13 in mixed-risk pregnancies in Thailand.

Cited by 19 publications

References 20 publications

Prospective study of the feasibility and effectiveness of a second‐trimester quadruple test for Down syndrome in Thailand

Prospective study of the feasibility and effectiveness of a second‐trimester quadruple test for Down syndrome in Thailand

Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China

Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood

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