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Noninvasive prenatal testing in routine clinical practice for a high-risk population: Experience from a center

This study aimed to summarize the effects of noninvasive prenatal testing (NIPT) on aneuploidy among high-risk participants in Tangshan Maternal and Children Health Hospital. NIPT or invasive prenatal diagnosis was recommended to patients with a high risk of fetal aneuploidy from February 2013 to Fe...

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Autores principales: Qi, Guijie, Yi, Jianping, Han, Baosheng, Liu, Heng, Guo, Wanru, Shi, Chong, Yin, Lirong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5072963/
https://www.ncbi.nlm.nih.gov/pubmed/27741136
http://dx.doi.org/10.1097/MD.0000000000005126
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author Qi, Guijie
Yi, Jianping
Han, Baosheng
Liu, Heng
Guo, Wanru
Shi, Chong
Yin, Lirong
author_facet Qi, Guijie
Yi, Jianping
Han, Baosheng
Liu, Heng
Guo, Wanru
Shi, Chong
Yin, Lirong
author_sort Qi, Guijie
collection PubMed
description This study aimed to summarize the effects of noninvasive prenatal testing (NIPT) on aneuploidy among high-risk participants in Tangshan Maternal and Children Health Hospital. NIPT or invasive prenatal diagnosis was recommended to patients with a high risk of fetal aneuploidy from February 2013 to February 2014. Patients who exhibited eligibility and applied for NIPT from January 2012 to January 2013 were included in a comparison group. The rates of patients who underwent invasive testing, declined to undergo further testing, and manifested trisomies 21, 18, and 13 were compared between two groups. Follow-up data were obtained from the participants who underwent NIPT from 2013 to 2014. A total of 7223 patients (3018 and 4205 individuals before and after NIPT) were eligible for analysis. After NIPT was introduced in 2013 to 2014, 727 patients (17.3%) underwent invasive testing, 2828 preferred NIPT (67.3%), and 650 declined to undergo further testing (15.5%). A total of 34 cases of trisomies 21, 18, and 13 (0.8%) were found. In 2012 to 2013, 565 patients (18.7%) underwent invasive testing and 2453 declined to undergo further testing (81.3%). A total of 7 cases of trisomies 21, 18, and 13 were documented (0.2%). Of these cases, 24 were found from NIPT and 10 cases were found from invasive testing. The number of participants who declined to undergo further testing significantly decreased after NIPT was introduced (81.3% vs. 15.5%, P < 0.001). The sensitivity and specificity of NIPT for trisomies 21, 18, and 13 were 100% and 99.9%, respectively. The detection rates of NIPT for trisomies 21, 18, and 13 also significantly increased (0.2% vs. 0.8%, P < 0.001). By contrast, the overall rates of invasive testing remained unchanged (18.7% vs. 17.3%, P = 0.12). The positive predictive values of NIPT for trisomies 21, 18, and 13 were 100%, 83.3%, and 50.0%, respectively. The false positive rates of NIPT were 0% and 0.04%. With NIPT implementation in clinical practice, the rate of declining a follow-up test among high-risk women was decreased and the detection rate of prenatal chromosomal aneuploidy for trisomies 21, 18, and 13 was increased without requiring numerous invasive procedures.
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spelling pubmed-50729632016-10-28 Noninvasive prenatal testing in routine clinical practice for a high-risk population: Experience from a center Qi, Guijie Yi, Jianping Han, Baosheng Liu, Heng Guo, Wanru Shi, Chong Yin, Lirong Medicine (Baltimore) 3500 This study aimed to summarize the effects of noninvasive prenatal testing (NIPT) on aneuploidy among high-risk participants in Tangshan Maternal and Children Health Hospital. NIPT or invasive prenatal diagnosis was recommended to patients with a high risk of fetal aneuploidy from February 2013 to February 2014. Patients who exhibited eligibility and applied for NIPT from January 2012 to January 2013 were included in a comparison group. The rates of patients who underwent invasive testing, declined to undergo further testing, and manifested trisomies 21, 18, and 13 were compared between two groups. Follow-up data were obtained from the participants who underwent NIPT from 2013 to 2014. A total of 7223 patients (3018 and 4205 individuals before and after NIPT) were eligible for analysis. After NIPT was introduced in 2013 to 2014, 727 patients (17.3%) underwent invasive testing, 2828 preferred NIPT (67.3%), and 650 declined to undergo further testing (15.5%). A total of 34 cases of trisomies 21, 18, and 13 (0.8%) were found. In 2012 to 2013, 565 patients (18.7%) underwent invasive testing and 2453 declined to undergo further testing (81.3%). A total of 7 cases of trisomies 21, 18, and 13 were documented (0.2%). Of these cases, 24 were found from NIPT and 10 cases were found from invasive testing. The number of participants who declined to undergo further testing significantly decreased after NIPT was introduced (81.3% vs. 15.5%, P < 0.001). The sensitivity and specificity of NIPT for trisomies 21, 18, and 13 were 100% and 99.9%, respectively. The detection rates of NIPT for trisomies 21, 18, and 13 also significantly increased (0.2% vs. 0.8%, P < 0.001). By contrast, the overall rates of invasive testing remained unchanged (18.7% vs. 17.3%, P = 0.12). The positive predictive values of NIPT for trisomies 21, 18, and 13 were 100%, 83.3%, and 50.0%, respectively. The false positive rates of NIPT were 0% and 0.04%. With NIPT implementation in clinical practice, the rate of declining a follow-up test among high-risk women was decreased and the detection rate of prenatal chromosomal aneuploidy for trisomies 21, 18, and 13 was increased without requiring numerous invasive procedures. Wolters Kluwer Health 2016-10-14 /pmc/articles/PMC5072963/ /pubmed/27741136 http://dx.doi.org/10.1097/MD.0000000000005126 Text en Copyright © 2016 the Author(s). Published by Wolters Kluwer Health, Inc. All rights reserved. http://creativecommons.org/licenses/by/4.0 This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0
spellingShingle 3500
Qi, Guijie
Yi, Jianping
Han, Baosheng
Liu, Heng
Guo, Wanru
Shi, Chong
Yin, Lirong
Noninvasive prenatal testing in routine clinical practice for a high-risk population: Experience from a center
title Noninvasive prenatal testing in routine clinical practice for a high-risk population: Experience from a center
title_full Noninvasive prenatal testing in routine clinical practice for a high-risk population: Experience from a center
title_fullStr Noninvasive prenatal testing in routine clinical practice for a high-risk population: Experience from a center
title_full_unstemmed Noninvasive prenatal testing in routine clinical practice for a high-risk population: Experience from a center
title_short Noninvasive prenatal testing in routine clinical practice for a high-risk population: Experience from a center
title_sort noninvasive prenatal testing in routine clinical practice for a high-risk population: experience from a center
topic 3500
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5072963/
https://www.ncbi.nlm.nih.gov/pubmed/27741136
http://dx.doi.org/10.1097/MD.0000000000005126
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