TY - JOUR
T1 - Clinical experience from Thailand noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies
AU - Manotaya, S.
AU - Xu, H.
AU - Uerpairojkit, B.
AU - Chen, F.
AU - Charoenvidhya, D.
AU - Liu, H.
AU - Petcharaburanin, N.
AU - Liu, Y.
AU - Tang, S.
AU - Wang, X.
AU - Dansakul, S.
AU - Thomsopa, T.
AU - Gao, Y.
AU - Zhang, H.
AU - Xu, H.
AU - Jiang, Hui
PY - 2016/3/1
Y1 - 2016/3/1
N2 - PurposeThe purpose of this article is to report the clinical experience and performance of massively parallel sequencing-based noninvasive prenatal testing (NIPT) as a screening method in detecting trisomy 21, 18, and 13 (T21/T18/T13) in a mixed-risk population in Thailand.
MethodsIn a 30-month period, 121 medical centers in Thailand offered NIPT as clinical screening tests for fetal T21, T18, and T13 in the mixed-risk population. All NIPT-positive cases were recommended to undergo invasive prenatal diagnosis.
ResultsA total of 4736 participants received the NIPT test, including 2840 high-risk pregnancies, either with advanced maternal age or positive serum biochemical tests, and 1889 low-risk pregnancies without conventional indications; 99.9% (4732/4736) of the participants with a median maternal age of 35years old received reports, and 1.3% (63/4732) were classified as test positive, including 36T21, 19T18, and 8T13; 82.5% (52/63) took prenatal diagnosis, and 11.5% (6/52) false-positive cases were observed. The positive predictive values for the detection of T21, T18, and T13 were 94.4%, 79.0%, and 87.5%, respectively.
ConclusionWith 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. (c) 2016 John Wiley & Sons, Ltd.
What's already known about this topic? Cell-free DNA sequencing-based noninvasive prenatal testing (NIPT) has enabled efficient and accurate screening for T21, T18 and T13. Various professional societies suggested that NIPT could be considered as a second-tier screening test for women at high risk for aneuploidy.
What does this study add? This study reports the performance of NIPT as the screening test in a large-scale mixed-risk population in Thailand for the first time. It provides the experience of implementing NIPT in a developing country with patient-funded prenatal screening system and continuous quests for applicable nationwide uptake of prenatal screening and diagnosis.
AB - PurposeThe purpose of this article is to report the clinical experience and performance of massively parallel sequencing-based noninvasive prenatal testing (NIPT) as a screening method in detecting trisomy 21, 18, and 13 (T21/T18/T13) in a mixed-risk population in Thailand.
MethodsIn a 30-month period, 121 medical centers in Thailand offered NIPT as clinical screening tests for fetal T21, T18, and T13 in the mixed-risk population. All NIPT-positive cases were recommended to undergo invasive prenatal diagnosis.
ResultsA total of 4736 participants received the NIPT test, including 2840 high-risk pregnancies, either with advanced maternal age or positive serum biochemical tests, and 1889 low-risk pregnancies without conventional indications; 99.9% (4732/4736) of the participants with a median maternal age of 35years old received reports, and 1.3% (63/4732) were classified as test positive, including 36T21, 19T18, and 8T13; 82.5% (52/63) took prenatal diagnosis, and 11.5% (6/52) false-positive cases were observed. The positive predictive values for the detection of T21, T18, and T13 were 94.4%, 79.0%, and 87.5%, respectively.
ConclusionWith 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. (c) 2016 John Wiley & Sons, Ltd.
What's already known about this topic? Cell-free DNA sequencing-based noninvasive prenatal testing (NIPT) has enabled efficient and accurate screening for T21, T18 and T13. Various professional societies suggested that NIPT could be considered as a second-tier screening test for women at high risk for aneuploidy.
What does this study add? This study reports the performance of NIPT as the screening test in a large-scale mixed-risk population in Thailand for the first time. It provides the experience of implementing NIPT in a developing country with patient-funded prenatal screening system and continuous quests for applicable nationwide uptake of prenatal screening and diagnosis.
U2 - 10.1002/pd.4775
DO - 10.1002/pd.4775
M3 - Journal article
C2 - 26748603
SN - 0197-3851
VL - 36
SP - 224
EP - 231
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
IS - 3
ER -