| Objective:Analyze embryo chromosomal abnormalities and related factors of missed abortion during early pregnancy,and explore the genetic etiology of missed abortion.Methods:In this study,48 patients(7 to 14 weeks of gestation)who were diagnosed with missed abortion at Naping Hospital between January 2019 and August 2020 were used as the research object.The abortion tissue was tested by CNV-Seq technology.Analyze the results of the detected chromosomal abnormalities and study the distribution of embryonic chromosomal abnormalities.The x2 test and binary Logistic regression were used to analyze the relationship between chromosomal abnormalities and maternal age,germ,fetal heart tube beat,number of missed abortions,complications,antithrombinⅢ,D dimer,thyroid function,autoimmune antibodies,anticardiolipin antibody,homocysteine,mycoplasma and IVF.At the same time,interpret and analyze the detected CNVs,and explore the application value of CNV-Seq technology in the application of chromosomal non-integrity and copy number abnormalities in missed abortion embryos.Results:A total of 48 missed abortion tissues were collected and CNV-Seq was performed on them.The detection success rate was 100%.The most common chromosomal abnormalities in the 48 samples were X chromosome abnormalities(7 cases),followed by chromosome 22(5 cases),chromosome 16(4 cases),and chromosome 15(4 cases).Among them,15 cases had normal chromosomes(15/33,31.25%)and 33 cases had chromosomal abnormalities(33/48,68.75%).Among them,the proportion of abnormal chromosomes was the highest,25 cases(25/48,52.08%).There were 32 samples in the younger age group,of which 19 had chromosomal abnormalities(19/32,59.3%);There were 16 samples in the older age group,and 14 had chromosomal abnormalities(14/16,87.5%).The proportion of chromosomal abnormalities in embryos of the advanced age group was much higher than that of the younger age group,and the difference was statistically significant(χ2=3.927,p<0.05).Fetal heart tube beats are more likely to occur in viable embryonic chromosomal trisomy(18 trisomy,13 trisomy,21 trisomy,45X),and the difference is statistically significant(χ2=9.172,p<0.05).The relationship between Homocysteine and embryonic chromosomal abnormalitie is a significant difference,with statistical significance(χ2=4.04,p<0.05);However,binary Logstic suggests that homocysteine is not an independent risk factor affecting embryonic chromosomal abnormalities.There was a significant difference between the number of missed abortions and embryo chromosomal abnormalities(x2=15.709,p<0.05),which was statistically significant.Binary Logstic suggested that the woman’s age(OR=4.789,95%CI 0.928～24.715,p<0.1,)was a positive correlation factor for chromosomal abnormalities in missed abortion embryos during early pregnancy.The number of missed abortions(OR=15.400,95%CI 3.477～68.216,p<0.05,)is a negatively correlated factor of chromosomal abnormalities in embryos with missed abortions in early pregnancy.Six copy number variants(CNV)were also detected in 48 samples,of which only one CNV was a large fragment CNV(≥10Mb),and the rest were submicroscopic CNV(<10Mb).Conclusion:Embryo chromosomal abnormalities are the main cause of missed abortion in early pregnancy.Fetal heart tube beats are more likely to appear in viable embryonic trisomy.As the mother’s age increases,the rate of embryo chromosome abnormality increases,and the number of missed abortions decreases,the rate of embryo chromosome abnormality decreases.CNV-Seq detection can not only detect aneuploidy abnormalities,but also has the ability to detect submicroscopic duplications and deletions. |
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