Volume 19 Issue 2
Feb.  2021
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Article Navigation >  Chinese Journal of General Practice  > 2021  >  19(2): 280-282, 323
LIANG Zhi-kun, LI Ming-yi, DENG Rui, HUANG Min, XIE Bo-bo, OUYANG Lu-ping. Application of single nucleotide polymorphism microarray in genetic diagnosis of nuchal fold thickened fetuses[J]. Chinese Journal of General Practice, 2021, 19(2): 280-282, 323. doi: 10.16766/j.cnki.issn.1674-4152.001788
Citation: LIANG Zhi-kun, LI Ming-yi, DENG Rui, HUANG Min, XIE Bo-bo, OUYANG Lu-ping. Application of single nucleotide polymorphism microarray in genetic diagnosis of nuchal fold thickened fetuses[J]. Chinese Journal of General Practice, 2021, 19(2): 280-282, 323. doi: 10.16766/j.cnki.issn.1674-4152.001788
shu

Application of single nucleotide polymorphism microarray in genetic diagnosis of nuchal fold thickened fetuses

doi: 10.16766/j.cnki.issn.1674-4152.001788
  • 1.

    Clinical Laboratory, Maternal & Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530003, China

Funds:

 2017YFC1001703

 Z20200643

  • Received Date: 2020-04-23
    Available Online: 2022-02-19
    Abstract
  •   Objective  To discuss the prenatal diagnosis and genetic counseling of nuchal fold (NF) thickened fetuses.  Methods  A retrospective analysis was performed on 152 pregnant women with NF ≥ 5.0 mm at 16-18 gestational weeks and NF ≥ 6.0 mm at 19-22 gestational weeks From January 2018 to July 2019 in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. Amniotic fluid samples were obtained by amniocentesis, and chromosome karyotype analysis and single nucleotide polymorphism array (SNP-array) were performed at the same time. Clinical diagnostic data of these pregnant women were collected, and fetal chromosome karyotype analysis and chromosome microarray detection results were analyzed.  Results  Among the 152 cases of nuchal fold thickened fetuses, 19 cases (19/152, 12.5%) of chromosomal karyotype abnormalities were detected. Among the 19 abnormal karyotypes, there were 12 cases of trisomy 21, 2 cases of trisomy 18, 2 cases of 45, X, 1 cases of 47, XXX, 1 cases of 45, -6[28]/46, r(6)(p25q26)[12], and 1 case of 46, XN, del (5) (p14). There were 33 abnormal cases detected by SNP-array, with a detection rate of 21.71% (33/152). The SNP-array detection rate was significantly higher than that of chromosome karyotype. In addition to the aneuploid or large fragment structural abnormalities detected by karyotype detection, the SNP-array also detected 14 cases of microdeletions not detected by karyotype analysis, including 4 cases of pathogenic copy number variation, 2 cases of suspected pathogenic copy number variation, and 8 cases of unknown clinical significance copy number variation.  Conclusion  For the nuchal fold thickened fetuses screened by ultrasound, SNP array technique can significantly improve the chromosome ultrastructure aberrations which cannot be detected by karyotype analysis.

     

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