Chromosomal Microarray Analysis Of Advanced Age Pregnancy And Fetal Congenital Heart Diseases

Objective Using chromosome karyotype analysis technique and chromosome microarray analysis to detect the chromosome aneuploidy and copy number variation in amniotic fluid,to analyze the correlation between advanced age pregnancy and fetal congenital heart diseases and fetal chromosomal abnormalities,and to evaluate the application value of CMA in prenatal diagnosis.Methods Between January 2017 and January 2019,344 single-fetal pregnant women,gestational age were 18-28 weeks(average gestational age 21+1 weeks),age was 19-50 years old(mean age 31 years old),underwent invasive prenatal diagnosis at the Prenatal Diagnostic Center of Ningxia Medical University General Hospital.At the same time,the chromosome karyotype analysis technique and CMA were used to complete the detection of amniotic fluid chromosome aneuploidy and CNV,and the detection results were analyzed.Results 1.344 cases of amniotic fluid specimens were successfully tested.the detection rate of fetal chromosomal abnormalities in The chromosome karyotype analysis technique and CMA were 10.75%(37/344)and 17.73%(61/344),respectively.The two methods were compared,P<0.01,and the difference was statistically significant.2.Non-advanced age pregnancy group(age <35 years old),advanced age pregnancy group A(age 35-39 years old)and advanced age pregnancy group B(age ≥ 40 years old),three groups of fetal chromosome aneuploidy detection rate comparison,there was a statistically significant difference between the non-advanced age pregnancy group(2.14%)and the advanced age pregnancy group B(10.00%)(P<0.0125).Other comparisons,P>0.0125,the difference was not statistically significant.The detection rates of fetal chromosome CNV in the three groups were all P>0.05,and the difference was not statistically significant.3.The detection rates of fetal chromosomal abnormalities in non-advanced age husbands(age <40 years old)and advanced age husbands(≥40 years old)were compared,P>0.05,and the difference was not statistically significant.4.Fetal cardiac structural abnormalities(28.07%)and fetal non-cardiac structural abnormalities(15.68%),the detection rate of fetal chromosomal abnormalities were compared,P<0.05,the difference was statistically significant;Single fetal cardiac structural abnormalities,complex fetal cardiac structural abnormalities and fetal cardiac structural abnormalities combined with extracardiac abnormalities,three groups of fetal chromosomal abnormalities detection rate comparison,single fetal cardiac structural abnormalities(5.56%)and fetal cardiac structural abnormalities combined with extracardiac Abnormalities(42.31%)were statistically significant(P<0.0125),other comparisons,P>0.0125,no statistical significance;The detection rate of abnormal chromosomal abnormalities in fetal heart structure was 28.07%(16/57),including 3 cases(5.26%)of aneuploidy,including 2 cases of trisomy 21 and 1 case of trisomy 18,pathogenic copy number variation(Pathogenic CNV,pCNV)7 cases(12.28%),including 2 cases of 22q11.2 deletion syndrome,2 cases of simultaneous deletion and deletion,1 case of repetition,2 cases of deletion,6 cases of pathogenicity unknown(10.53%).5.The detection rate of fetal chromosomal abnormalities in fetal simple ventricular strong spots and fetal ventricular strong spots combined with other structural abnormalities was compared,P<0.05,the difference was statistically significant.The detection rate of fetal ventricular plaque chromosomal abnormalities was 12.24%(12/98),including 2 cases of chromosome aneuploidy and 5 cases of pCNV(7.37%),including 1 case of 16p11.2 repeat syndrome and 1 case of 22q11.2.Syndrome,1 case of Williams syndrome,1 case of 1q21.1 microdeletion syndrome,1 case of Wolf-Hirschhorn syndrome,5 cases of pathogenicity unknown(5.26%).Conclusion 1.CMA improves chromosomal abnormality detection rate than chromosome karyotype analysis technique.2.The age of pregnancy increases,and the probability of chromosomal aneuploidy increases in the fetus,especially when the gestation age is over 40 years old.3.The probability of chromosomal abnormalities in fetal cardiac structural abnormalities combined with extracardiac structural abnormalities and fetal ventricular strong spots combined with other structural abnormalities is significantly increased.