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Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

BMC medical genomics, 2021-04, Vol.14 (1), p.106-106, Article 106 [Peer Reviewed Journal]

COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2021 ;ISSN: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-021-00955-6 ;PMID: 33853619

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  • Title:
    Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases
  • Author: Ge, Yunsheng ; Li, Jia ; Zhuang, Jianlong ; Zhang, Jian ; Huang, Yanru ; Tan, Meihua ; Li, Wei ; Chen, Jiayan ; Zhou, Yulin
  • Subjects: Age ; Amniocentesis ; Aneuploidy ; Beliefs, opinions and attitudes ; Births ; Chromosome aberrations ; Common trisomies ; Copy number ; Copy number variations ; Deoxyribonucleic acid ; Diagnosis ; Diagnostic tests ; DNA ; DNA Copy Number Variations ; Expanded noninvasive prenatal test ; Fetuses ; Genetic counseling ; Genetic screening ; Identification and classification ; Karyotypes ; Methods ; Parents ; Patau's syndrome ; Performance evaluation ; Plasma ; Pregnancy ; Pregnant women ; Prenatal diagnosis ; Rare autosomal aneuploidies ; Sex chromosomal aneuploidies ; Trisomy ; Ultrasonic imaging ; Variation ; Womens health
  • Is Part Of: BMC medical genomics, 2021-04, Vol.14 (1), p.106-106, Article 106
  • Description: Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs). This study was performed to investigate the performance of expanded noninvasive prenatal testing (expanded NIPT) in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare autosomal aneuploidies (RATs), and copy number variations (CNVs) and parental willingness for invasive prenatal diagnosis in a Chinese prenatal diagnosis center. A total of 24,702 pregnant women were retrospectively analyzed at the Women and Children's Hospital from January 2013 to April 2019, among which expanded NIPT had been successfully conducted in 24,702 pregnant women. The high-risk expanded NIPT results were validated by karyotype analysis and chromosomal microarray analysis. All the tested pregnant women were followed up for pregnancy outcomes. Of the 24,702 cases, successful follow-up was conducted in 98.77% (401/446) of cases with common trisomies and SCAs, 91.95% (80/87) of RAT and CNV cases, and 76.25% (18,429/24,169) of cases with low-risk screening results. The sensitivity of expanded NIPT was 100% (95% confidence interval[CI], 97.38-100%), 96.67%(95%CI, 82.78-99.92%), and 100%(95%CI, 66.37-100.00%), and the specificity was 99.92%(95%CI, 99.87-99.96%), 99.96%(95%CI, 99.91-99.98%), and 99.88% (95%CI, 99.82-99.93%) for the detection of trisomies 21, 18, and 13, respectively. Expanded NIPT detected 45,X, 47,XXX, 47,XXY, XYY syndrome, RATs, and CNVs with positive predictive values of 25.49%, 75%, 94.12%, 76.19%, 6.45%, and 50%, respectively. The women carrying fetuses with Trisomy 21/Trisomy 18/Trisomy 13 underwent invasive prenatal diagnosis and terminated their pregnancies at higher rates than those at high risk for SCAs, RATs, and CNVs. Our study demonstrates that the expanded NIPT detects fetal trisomies 21, 18, and 13 with high sensitivity and specificity. The accuracy of detecting SCAs, RATs, and CNVs is still relatively poor and needs to be improved. With a high-risk expanded NIPT result, the women at high risk for common trisomies are more likely to undergo invasive prenatal diagnosis procedures and terminate their pregnancies than those with unusual chromosome abnormalities.
  • Publisher: England: BioMed Central Ltd
  • Language: English
  • Identifier: ISSN: 1755-8794
    EISSN: 1755-8794
    DOI: 10.1186/s12920-021-00955-6
    PMID: 33853619
  • Source: GFMER Free Medical Journals
    MEDLINE
    PubMed Central
    Springer Nature OA/Free Journals
    ROAD: Directory of Open Access Scholarly Resources
    ProQuest Central
    DOAJ Directory of Open Access Journals
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