Maternal prenatal screening programs that predict trisomy 21, trisomy 18, and neural tube defects in offspring

<h4>Objective</h4> To determine the efficacy of three different maternal screening programs (first-trimester screening [FTS], individual second-trimester screening [ISTS], and first- and second-trimester combined screening [FSTCS]) in predicting offspring with trisomy 21, trisomy 18, and...

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Main Authors: Yiming Chen, Wenwen Ning, Yezhen Shi, Yijie Chen, Wen Zhang, Liyao Li, Xiaoying Wang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2023-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9942960/?tool=EBI
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author Yiming Chen
Wenwen Ning
Yezhen Shi
Yijie Chen
Wen Zhang
Liyao Li
Xiaoying Wang
author_facet Yiming Chen
Wenwen Ning
Yezhen Shi
Yijie Chen
Wen Zhang
Liyao Li
Xiaoying Wang
author_sort Yiming Chen
collection DOAJ
description <h4>Objective</h4> To determine the efficacy of three different maternal screening programs (first-trimester screening [FTS], individual second-trimester screening [ISTS], and first- and second-trimester combined screening [FSTCS]) in predicting offspring with trisomy 21, trisomy 18, and neural tube defects (NTDs). <h4>Methods</h4> A retrospective cohort involving 108,118 pregnant women who received prenatal screening tests during the first (9–13+6 weeks) and second trimester (15–20+6 weeks) in Hangzhou, China from January–December 2019, as follows: FTS, 72,096; ISTS, 36,022; and FSTCS, 67,631 gravidas. <h4>Result</h4> The high and intermediate risk positivity rates for trisomy 21 screening with FSTCS (2.40% and 5.57%) were lower than ISTS (9.02% and 16.14%) and FTS (2.71% and 7.19%); there were statistically significant differences in the positivity rates among the screening programs (all P < 0.05). Detection of trisomy 21 was as follows: ISTS, 68.75%; FSTCS, 63.64%; and FTS, 48.57%. Detection of trisomy 18 was as follows; FTS and FSTCS, 66.67%; and ISTS, 60.00%. There were no statistical differences in the detection rates for trisomy 21 and 18 among the 3 screening programs (all P > 0.05). The positive predictive values (PPVs) for trisomy 21 and 18 were highest with FTS, while the false positive rate (FPR) was lowest with FSTCS. <h4>Conclusion</h4> FSTCS was superior to FTS and ISTS screening and substantially reduced the number of high risk pregnancies for trisomy 21 and 18; however, FSTCS was not significantly different in detecting fetal trisomy 21 and 18 and other confirmed cases with chromosomal abnormalities.
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spelling doaj.art-a4481cdfdbd84e89aafa99c12f28062f2023-02-26T05:31:40ZengPublic Library of Science (PLoS)PLoS ONE1932-62032023-01-01182Maternal prenatal screening programs that predict trisomy 21, trisomy 18, and neural tube defects in offspringYiming ChenWenwen NingYezhen ShiYijie ChenWen ZhangLiyao LiXiaoying Wang<h4>Objective</h4> To determine the efficacy of three different maternal screening programs (first-trimester screening [FTS], individual second-trimester screening [ISTS], and first- and second-trimester combined screening [FSTCS]) in predicting offspring with trisomy 21, trisomy 18, and neural tube defects (NTDs). <h4>Methods</h4> A retrospective cohort involving 108,118 pregnant women who received prenatal screening tests during the first (9–13+6 weeks) and second trimester (15–20+6 weeks) in Hangzhou, China from January–December 2019, as follows: FTS, 72,096; ISTS, 36,022; and FSTCS, 67,631 gravidas. <h4>Result</h4> The high and intermediate risk positivity rates for trisomy 21 screening with FSTCS (2.40% and 5.57%) were lower than ISTS (9.02% and 16.14%) and FTS (2.71% and 7.19%); there were statistically significant differences in the positivity rates among the screening programs (all P < 0.05). Detection of trisomy 21 was as follows: ISTS, 68.75%; FSTCS, 63.64%; and FTS, 48.57%. Detection of trisomy 18 was as follows; FTS and FSTCS, 66.67%; and ISTS, 60.00%. There were no statistical differences in the detection rates for trisomy 21 and 18 among the 3 screening programs (all P > 0.05). The positive predictive values (PPVs) for trisomy 21 and 18 were highest with FTS, while the false positive rate (FPR) was lowest with FSTCS. <h4>Conclusion</h4> FSTCS was superior to FTS and ISTS screening and substantially reduced the number of high risk pregnancies for trisomy 21 and 18; however, FSTCS was not significantly different in detecting fetal trisomy 21 and 18 and other confirmed cases with chromosomal abnormalities.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9942960/?tool=EBI
spellingShingle Yiming Chen
Wenwen Ning
Yezhen Shi
Yijie Chen
Wen Zhang
Liyao Li
Xiaoying Wang
Maternal prenatal screening programs that predict trisomy 21, trisomy 18, and neural tube defects in offspring
PLoS ONE
title Maternal prenatal screening programs that predict trisomy 21, trisomy 18, and neural tube defects in offspring
title_full Maternal prenatal screening programs that predict trisomy 21, trisomy 18, and neural tube defects in offspring
title_fullStr Maternal prenatal screening programs that predict trisomy 21, trisomy 18, and neural tube defects in offspring
title_full_unstemmed Maternal prenatal screening programs that predict trisomy 21, trisomy 18, and neural tube defects in offspring
title_short Maternal prenatal screening programs that predict trisomy 21, trisomy 18, and neural tube defects in offspring
title_sort maternal prenatal screening programs that predict trisomy 21 trisomy 18 and neural tube defects in offspring
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9942960/?tool=EBI
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