Comparison of application of noninvasive DNA detection and amniocentesis in the prenatal diagnosis of fetal chromosomal abnormalities
Objective To compare the application effect of noninvasive DNA detection and amniocentesis in the prenatal diagnosis of fetal chromosomal abnormalities.Method Medical records of 512 pregnant women who received amniocentesis in department of eu-genic genetics of the hospital due to non-invasive high risk were retrospectively analyzed.All patients received noninvasive DNA prena-tal detection and amniocentesis for karyotype and chromosome microarray analysis(CMA).The coincidence rate of noninvasive DNA prenatal detection on chromosomal abnormalities was explored.Results ①Noninvasive DNA prenatal detection reminded that there were 138 cases(26.95%)of high-risk trisomy 21,54 cases(10.55%)of high-risk trisomy 18,27 cases(5.27%)of high-risk triso-my 13,167 cases(32.62%)of high-risk sex chromosome and 126 cases(24.61%)of high-risk other autosomes.②Amniocentesis karyotype diagnosis showed that there were 210 cases of chromosomal abnormalities with the total diagnostic coincidence rate of 41.02%(210/512),including 105 cases of trisomy 21 syndrome with the diagnostic coincidence rate of 76.09%(105/138),14 cases of triso-my 18 syndrome with the diagnostic coincidence rate of 25.93%(14/54),3 cases of trisomy 13 syndrome with the diagnostic coinci-dence rate of 11.11%(3/27),62 cases of sex chromosome abnormality with the diagnostic coincidence rate of 37.13%(62/167)and 26 cases of other autosomal abnormalities with the diagnostic coincidence rate of 20.63%(26/126).There were significant differences in the high-risk risk distributions and diagnostic coincidence rates of different chromosomes(Z=5.391,P=0.000;χ2=117.184,P=0.000).③ Follow-up results showed that 102 cases of induced labor and 3 cases of cesarean section were diagnosed in pregnant women with trisomy 21 syndrome.There were 13 cases of induced labor and 1 case of postoperative abortion in pregnant women with tri-somy 18 syndrome.All pregnant women diagnosed with trisomy 13 syndrome were with induced labor.There were 36 cases of induced labor and 26 cases of cesarean section in pregnant women with confirmed sex chromosome abnormalities.There were 10 cases of in-duced labor and 26 cases of cesarean section in pregnant women with other autosomal abnormalities.Conclusion Noninvasive DNA de-tection in the prenatal diagnosis of fetal chromosomal abnormalities can effectively screen the fetuses with trisomy 21 syndrome,but has low detection rates of other chromosomal abnormalities.Clinical prenatal examination still needs to be combined with amniocentesis screening.
Noninvasive DNA prenatal detectionAmniocentesisChromosomal abnormalitiesKaryotype
万方数据
维普
