The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations

PurposeTo evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) in screening for fetal chromosome aneuploidy and copy number variations (CNVs) among pregnant women with different risk factors to investigate how the target population of cell-free fetal DNA may change...

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Main Authors: Shaozhe Yang, Yanqi He, Jingshang Lv, Rongxiang Li, Xiuhong Fu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Medicine
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Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2025.1522680/full
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author Shaozhe Yang
Yanqi He
Jingshang Lv
Rongxiang Li
Xiuhong Fu
author_facet Shaozhe Yang
Yanqi He
Jingshang Lv
Rongxiang Li
Xiuhong Fu
author_sort Shaozhe Yang
collection DOAJ
description PurposeTo evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) in screening for fetal chromosome aneuploidy and copy number variations (CNVs) among pregnant women with different risk factors to investigate how the target population of cell-free fetal DNA may change in NIPT-plus.MethodsThe clinical data, test results, confirmatory invasive testing outcomes, and follow-up results of 6,220 pregnant women who underwent NIPT-plus were re-viewed. The performance indicators of the positive predictive value (PPV), positive rate (PR), specificity, and sensitivity in screening for common trisomies, sex chromosomal abnormalities (SCAs), rare autosomal aneuploidies (RAAs), and CNVs were calculated. The PR or PPV of NIPT-plus for screening chromosome aneuploidy and CNVs in women of varying ages, risk factors, and clinical indications were determined.ResultsThe PRs of common trisomies, SCAs, RAAs, and CNVs in NIPT-plus were 0.71, 0.45, 0.32, and 0.59%, respectively, with 100% sensitivity and specificities ranging from 99.69 to 99.87%. The PPVs were 80.95, 30.77, 13.33, and 44.12%, respectively. The high-risk group had higher PRs and PPVs for chromosome aneuploidy, with no significant difference in screening for CNVs. NIPT-plus showed greater PR for aneuploidy in the older age group than in the younger age group, with no significant differences in CNVs screening.ConclusionNIPT-plus was able to effectively screen for chromosome aneuploidy and CNVs. The performance of CNVs screening was not significantly different among different risk factors and age groups. The target population for NIPT-plus should include all pregnant women, not just those at high risk.
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spelling doaj-art-7484b2d14804456582a99244685b1cd82025-01-21T05:43:20ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2025-01-011210.3389/fmed.2025.15226801522680The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populationsShaozhe YangYanqi HeJingshang LvRongxiang LiXiuhong FuPurposeTo evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) in screening for fetal chromosome aneuploidy and copy number variations (CNVs) among pregnant women with different risk factors to investigate how the target population of cell-free fetal DNA may change in NIPT-plus.MethodsThe clinical data, test results, confirmatory invasive testing outcomes, and follow-up results of 6,220 pregnant women who underwent NIPT-plus were re-viewed. The performance indicators of the positive predictive value (PPV), positive rate (PR), specificity, and sensitivity in screening for common trisomies, sex chromosomal abnormalities (SCAs), rare autosomal aneuploidies (RAAs), and CNVs were calculated. The PR or PPV of NIPT-plus for screening chromosome aneuploidy and CNVs in women of varying ages, risk factors, and clinical indications were determined.ResultsThe PRs of common trisomies, SCAs, RAAs, and CNVs in NIPT-plus were 0.71, 0.45, 0.32, and 0.59%, respectively, with 100% sensitivity and specificities ranging from 99.69 to 99.87%. The PPVs were 80.95, 30.77, 13.33, and 44.12%, respectively. The high-risk group had higher PRs and PPVs for chromosome aneuploidy, with no significant difference in screening for CNVs. NIPT-plus showed greater PR for aneuploidy in the older age group than in the younger age group, with no significant differences in CNVs screening.ConclusionNIPT-plus was able to effectively screen for chromosome aneuploidy and CNVs. The performance of CNVs screening was not significantly different among different risk factors and age groups. The target population for NIPT-plus should include all pregnant women, not just those at high risk.https://www.frontiersin.org/articles/10.3389/fmed.2025.1522680/fullcell-free fetal DNAprenatal screeningexpanded non-invasive prenatal testingcopy number variationschromosome aneuploidies
spellingShingle Shaozhe Yang
Yanqi He
Jingshang Lv
Rongxiang Li
Xiuhong Fu
The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations
Frontiers in Medicine
cell-free fetal DNA
prenatal screening
expanded non-invasive prenatal testing
copy number variations
chromosome aneuploidies
title The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations
title_full The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations
title_fullStr The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations
title_full_unstemmed The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations
title_short The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations
title_sort evolution of cell free fetal dna testing expanded non invasive prenatal testing and its effect on target populations
topic cell-free fetal DNA
prenatal screening
expanded non-invasive prenatal testing
copy number variations
chromosome aneuploidies
url https://www.frontiersin.org/articles/10.3389/fmed.2025.1522680/full
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