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Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases

Molecular cytogenetics, 2021-06, Vol.14 (1), p.1-31, Article 31 [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: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-021-00550-5 ;PMID: 34127051

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  • Title:
    Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases
  • Author: Pang, Yu ; Wang, Chaohong ; Tang, Junxiang ; Zhu, Jiansheng
  • Subjects: Amniocentesis ; Amniotic fluid ; Aneuploidy ; Bioinformatics ; Birth defects ; Chromosomal microarray analysis ; Chromosome aneuploidy ; Chromosomes ; Copy number ; Copy number variation ; Diagnosis ; Fetuses ; Genetic counseling ; In vitro fertilization ; Karyotypes ; Miscarriage ; Noninvasive prenatal testing ; Patau's syndrome ; Pregnancy ; Pregnant women ; Sex chromosomes ; Stem cells ; Trisomy ; Ultrasonic imaging ; Womens health
  • Is Part Of: Molecular cytogenetics, 2021-06, Vol.14 (1), p.1-31, Article 31
  • Description: Abstract Objective To assess the detection efficiency of noninvasive prenatal testing (NIPT) for fetal autosomal aneuploidy, sex chromosome aneuploidy (SCA), other chromosome aneuploidy, copy number variation (CNV), and to provide further data for clinical application of NIPT. Materials and methods 25,517 pregnant women who underwent NIPT testing in Anhui Province Maternity and Child Health Hospital from September 2019 to September 2020 were selected, and samples with high-risk test results were subjected to karyotype analysis for comparison by using amniotic fluid, with some samples subjected to further validation by chromosomal microarray analysis, and followed up for pregnancy outcome. Results A total of 25,517 pregnant women who received NIPT, 25,502 cases were tested successfully, and 294 high-risk samples (1.15%) were detected, there were 96 true positive samples, 117 false positive samples and 81 cases were refused further diagnosis. Samples with high risk of autosomal aneuploidy were detected in 71 cases (0.28%), and 51 cases were confirmed, including: trisomy 21 (T21) in 44 cases, trisomy 18 (T18) in 5 cases, and trisomy 13 (T13) in 2 cases; the positive predictive value (PPV) was 91.67%, 45.45%, and 33.33%, respectively, and the negative predictive value was 100%, the false positive rate (FPR) was 0.02%, 0.02%, and 0.02%, respectively.13 samples with high risk of mosaic trisomies 21, 18, and 13 were detected, and 1 case of T21mos was confirmed with a PPV of 8.33%. Samples with high risk of SCA were detected in 72 cases (0.28%), and the diagnosis was confirmed in 23 cases, with a PPV of 41.07% and a FPR of 0.13%. These included 3 cases of 45,X, 6 cases of 47,XXY, 8 cases of 47,XXX and 6 cases of 47,XYY, with PPVs of 12.00%, 50.00%, 72.73%, and 75.00%, respectively, and false-positive rates of 0.09%, 0.02%, 0.01% and 0.01% respectively. Samples with high risk of CNV were detected in 104 cases (0.41%) and confirmed in 18 cases, with a PPV of 32.14% and a FPR of 0.15%. Samples with high risk of other chromosomal aneuploidy were detected in 34 cases (0.13%), and the diagnosis was confirmed in 3 cases, which were T2, T9, and T16 respectively. The overall PPV for other chromosome aneuploidy was 12.50%, with a FPR of 0.08%. Conclusion NIPT is indicated for trisomies 21, 18 and 13 screening, especially for T21. It also has some certain reference value for SCA and CNV, but is not recommended for screening of other chromosomal aneuploidy.
  • Publisher: London: BioMed Central Ltd
  • Language: English
  • Identifier: ISSN: 1755-8166
    EISSN: 1755-8166
    DOI: 10.1186/s13039-021-00550-5
    PMID: 34127051
  • Source: GFMER Free Medical Journals
    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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