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Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China

Journal of assisted reproduction and genetics, 2021-03, Vol.38 (3), p.727-734 [Peer Reviewed Journal]

The Author(s) 2021 ;The Author(s) 2021. This work is published 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. ;ISSN: 1058-0468 ;EISSN: 1573-7330 ;DOI: 10.1007/s10815-020-02056-2 ;PMID: 33564935

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  • Title:
    Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China
  • Author: Yang, Jiexia ; Hou, Yaping ; Guo, Fangfang ; Peng, Haishan ; Wang, Dongmei ; Li, Yi ; OY, Haoxin ; Wang, Yixia ; Lu, Jian ; Yin, Aihua
  • Subjects: Chromosome aberrations ; DNA microarrays ; Fetuses ; Genetic counseling ; Genetics ; Gynecology ; Human Genetics ; Medicine ; Medicine & Public Health ; Monosomy ; Mosaicism ; Nucleotide sequence ; Prenatal diagnosis ; Reproductive Medicine ; Sex chromosomes
  • Is Part Of: Journal of assisted reproduction and genetics, 2021-03, Vol.38 (3), p.727-734
  • Description: Background Noninvasive prenatal testing (NIPT) has been widely used to screen for fetal aneuploidies, including fetal sex chromosome aneuploidies (SCAs). However, there is less information on the performance of NIPT in detecting SCAs. Methods A cohort of 47,800 pregnancies was recruited to review the high-risk NIPT results for SCAs. Cell-free fetal DNA (cffDNA) was extracted and sequenced. All NIPT high-risk cases were recommended to undergo invasive prenatal diagnosis for karyotyping analysis and chromosome microarray analysis (CMA). Results A total of 238 high-risk cases were detected by NIPT, including 137 cases of 45,X, 27 cases of 47,XXX, and 74 cases of 47,XYY/47,XXY. Prenatal diagnosis, including karyotyping analysis and CMA, was available in 170 cases. The positive predictive value (PPV) was 30.00% for 45,X, 70.58% for 47,XXX, and 81.13% for 47,XYY/47,XXY. In addition, 13 cases of sex chromosome mosaicism and 9 cases of sex chromosome CNVs were incidentally found in this study. Conclusion Our study showed that NIPT was reliable for screening SCAs based on a large sample, and it performed better in predicting sex chromosome trisomies than monosomy X. Our study will provide an important reference for clinical genetic counseling and further processing of the results.
  • Publisher: New York: Springer US
  • Language: English
  • Identifier: ISSN: 1058-0468
    EISSN: 1573-7330
    DOI: 10.1007/s10815-020-02056-2
    PMID: 33564935
  • Source: SpringerOpen
    Geneva Foundation Free Medical Journals at publisher websites
    PubMed Central
    ProQuest Central
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