Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies
Abstract Background Noninvasive prenatal testing (NIPT) for fetal aneuploidies by scanning cell-free fetal DNA in maternal plasma is rapidly becoming a first-tier aneuploidy screening test in clinical practices. With the development of whole-genome sequencing technology, small subchromosomal deletio...
Main Authors: | , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2019-03-01
|
Series: | Human Genomics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s40246-019-0198-2 |
id |
doaj-da7832e1a2a34c66bd6be7b6c0ea4d28 |
---|---|
record_format |
Article |
spelling |
doaj-da7832e1a2a34c66bd6be7b6c0ea4d282020-11-25T03:02:27ZengBMCHuman Genomics1479-73642019-03-011311910.1186/s40246-019-0198-2Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnanciesHua Hu0Li Wang1Jiayan Wu2Peng Zhou3Jingli Fu4Jiuchen Sun5Weiyi Cai6Hailiang Liu7Ying Yang8Second Affiliated Hospital, Army Military Medical UniversitySecond Affiliated Hospital, Army Military Medical UniversitySecond Affiliated Hospital, Army Military Medical UniversitySecond Affiliated Hospital, Army Military Medical UniversitySecond Affiliated Hospital, Army Military Medical UniversitySecond Affiliated Hospital, Army Military Medical UniversityCapitalBio Technology Inc.CapitalBio Technology Inc.Second Affiliated Hospital, Army Military Medical UniversityAbstract Background Noninvasive prenatal testing (NIPT) for fetal aneuploidies by scanning cell-free fetal DNA in maternal plasma is rapidly becoming a first-tier aneuploidy screening test in clinical practices. With the development of whole-genome sequencing technology, small subchromosomal deletions and duplications that could not be detected by conventional karyotyping are now able to be detected with NIPT technology. Methods In the present study, we examined 8141 single pregnancies with NIPT to calculate the positive predictive values of each of the chromosome aneuploidies and the subchromosomal microdeletions and microduplications. Results We confirmed that the positive predictive values (PPV) for trisomy 13, trisomy 18, trisomy 21, and sex chromosome aneuploidy were 14.28%, 60%, 80%, and 45.83%, respectively. At the same time, we also found 51 (0.63%) positive cases for chromosomal microdeletions or microduplications but only 13 (36.11%) true-positive cases. These results indicate that NIPT for trisomy 21 detection had the highest accuracy, while accuracy was low for chromosomal microdeletion and microduplications. Conclusions Therefore, it is very important to improve the specificity, accuracy, and sensitivity of NIPT technology for the detection of subchromosomal microdeletions and microduplications.http://link.springer.com/article/10.1186/s40246-019-0198-2Noninvasive prenatal testing (NIPT)Chromosome aneuploidiesSex chromosome aneuploidySubchromosomal microdeletions/microduplications |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Hua Hu Li Wang Jiayan Wu Peng Zhou Jingli Fu Jiuchen Sun Weiyi Cai Hailiang Liu Ying Yang |
spellingShingle |
Hua Hu Li Wang Jiayan Wu Peng Zhou Jingli Fu Jiuchen Sun Weiyi Cai Hailiang Liu Ying Yang Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies Human Genomics Noninvasive prenatal testing (NIPT) Chromosome aneuploidies Sex chromosome aneuploidy Subchromosomal microdeletions/microduplications |
author_facet |
Hua Hu Li Wang Jiayan Wu Peng Zhou Jingli Fu Jiuchen Sun Weiyi Cai Hailiang Liu Ying Yang |
author_sort |
Hua Hu |
title |
Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies |
title_short |
Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies |
title_full |
Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies |
title_fullStr |
Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies |
title_full_unstemmed |
Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies |
title_sort |
noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies |
publisher |
BMC |
series |
Human Genomics |
issn |
1479-7364 |
publishDate |
2019-03-01 |
description |
Abstract Background Noninvasive prenatal testing (NIPT) for fetal aneuploidies by scanning cell-free fetal DNA in maternal plasma is rapidly becoming a first-tier aneuploidy screening test in clinical practices. With the development of whole-genome sequencing technology, small subchromosomal deletions and duplications that could not be detected by conventional karyotyping are now able to be detected with NIPT technology. Methods In the present study, we examined 8141 single pregnancies with NIPT to calculate the positive predictive values of each of the chromosome aneuploidies and the subchromosomal microdeletions and microduplications. Results We confirmed that the positive predictive values (PPV) for trisomy 13, trisomy 18, trisomy 21, and sex chromosome aneuploidy were 14.28%, 60%, 80%, and 45.83%, respectively. At the same time, we also found 51 (0.63%) positive cases for chromosomal microdeletions or microduplications but only 13 (36.11%) true-positive cases. These results indicate that NIPT for trisomy 21 detection had the highest accuracy, while accuracy was low for chromosomal microdeletion and microduplications. Conclusions Therefore, it is very important to improve the specificity, accuracy, and sensitivity of NIPT technology for the detection of subchromosomal microdeletions and microduplications. |
topic |
Noninvasive prenatal testing (NIPT) Chromosome aneuploidies Sex chromosome aneuploidy Subchromosomal microdeletions/microduplications |
url |
http://link.springer.com/article/10.1186/s40246-019-0198-2 |
work_keys_str_mv |
AT huahu noninvasiveprenataltestingforchromosomeaneuploidiesandsubchromosomalmicrodeletionsmicroduplicationsinacohortof8141singlepregnancies AT liwang noninvasiveprenataltestingforchromosomeaneuploidiesandsubchromosomalmicrodeletionsmicroduplicationsinacohortof8141singlepregnancies AT jiayanwu noninvasiveprenataltestingforchromosomeaneuploidiesandsubchromosomalmicrodeletionsmicroduplicationsinacohortof8141singlepregnancies AT pengzhou noninvasiveprenataltestingforchromosomeaneuploidiesandsubchromosomalmicrodeletionsmicroduplicationsinacohortof8141singlepregnancies AT jinglifu noninvasiveprenataltestingforchromosomeaneuploidiesandsubchromosomalmicrodeletionsmicroduplicationsinacohortof8141singlepregnancies AT jiuchensun noninvasiveprenataltestingforchromosomeaneuploidiesandsubchromosomalmicrodeletionsmicroduplicationsinacohortof8141singlepregnancies AT weiyicai noninvasiveprenataltestingforchromosomeaneuploidiesandsubchromosomalmicrodeletionsmicroduplicationsinacohortof8141singlepregnancies AT hailiangliu noninvasiveprenataltestingforchromosomeaneuploidiesandsubchromosomalmicrodeletionsmicroduplicationsinacohortof8141singlepregnancies AT yingyang noninvasiveprenataltestingforchromosomeaneuploidiesandsubchromosomalmicrodeletionsmicroduplicationsinacohortof8141singlepregnancies |
_version_ |
1724689446604898304 |