Volume 21 Issue 5
May  2023
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Article Navigation >  Chinese Journal of General Practice  > 2023  >  21(5): 805-808
SU Jingyu, OUYANG Luping, OU Shan, LIU Tiansheng, LI Wei, FEI Dongmei, HUANG Hongqian, GENG Guoxing, LUO Jingsi. Application of single nucleotide polymorphic microarray technique in prenatal diagnosis of advanced maternal age[J]. Chinese Journal of General Practice, 2023, 21(5): 805-808. doi: 10.16766/j.cnki.issn.1674-4152.002988
Citation: SU Jingyu, OUYANG Luping, OU Shan, LIU Tiansheng, LI Wei, FEI Dongmei, HUANG Hongqian, GENG Guoxing, LUO Jingsi. Application of single nucleotide polymorphic microarray technique in prenatal diagnosis of advanced maternal age[J]. Chinese Journal of General Practice, 2023, 21(5): 805-808. doi: 10.16766/j.cnki.issn.1674-4152.002988
shu

Application of single nucleotide polymorphic microarray technique in prenatal diagnosis of advanced maternal age

doi: 10.16766/j.cnki.issn.1674-4152.002988

  • Laboratory of Genetic and Metabolism Center, Maternal & Child Health Hospital of Guangxi Zhuang Autonomous Region, Guangxi Institute of Birth Defects Prevention and Control, Nanning, Guangxi 530002, China

Funds:

 2020JJB140047

 Z20210440

 Z20210066

 Z20200699

  • Received Date: 2022-01-03
    Abstract
  •   Objective  To investigate the clinical value of the combination of chromosome karyotype and single nucleodide polymorphic microarray (SNP array) in the antenatal diagnosis of fetuses with advanced pregnancy and the correlation between chromosome loci and corresponding clinical phenotypes.  Methods  From January 2016 to December 2020, 2 642 pregnant women who underwent amniocentesis to extract amniotic fluid due to advanced pregnancy (≥35 years old) were enrolled in the genetic outpatient clinic of Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. Conventional cell culture was used for chromosome karyotype analysis and G-banding. At the same time, copy number variations (CNVs) were detected by parallel SNP array.  Results  Karyotype analysis of 2 642 amniotic fluid samples from advanced pregnant women revealed 44 aneuploidy chromosome abnormalities, among which trisomy 21-syndrome was the most common (65.9%, 29/44), followed by trisomy 18-syndrome (9.1%, 4/44), trisomy 13-syndrome (4.5%, 2/44), and sex chromosome aneuploidy chimerism (20.5%, 9/44). The SNP array also detected 20 cases of chromosomal microdeletion or microduplication abnormalities and 104 cases of unknown clinical significance. The detection rate of SNP array was significantly higher than that of karyotype analysis (P < 0.05). Comparison of karyotype analysis in age groups: the difference between the karyotype analysis in the age groups was not statistically significant (P>0.05) between the 35-37 years old and 38-40 years old age group; and between the 38-40 years old and 41-43 years old age group(P>0.05), while the difference between 41-43 years old and ≥44 years old age group was statistically significant (P < 0.05). There was no significant difference in SNP array detection rates in the four ages of advanced pregnancy (P>0.05).  Conclusion  The fetus of advanced maternal age is associated with chromosomal abnormalities, mainly chromosomal aneuploidy, but also CNVs, translocation and other chromosomal abnormalities. Simultaneous chromosome karyotype analysis and SNP array detection can provide more accurate information and basis for genetic counselling and prognostic assessment of fetus with advanced pregnancy.

     

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