无创DNA检测技术在产前筛查中的临床应用(1)
摘 要：目的 探讨无创DNA基因检测技术应用于产前筛查中的临床价值及意义。方法 回顾性分析在我院2015年1月～2017年1月针对553例孕妇包括预产期年龄≥35岁的高龄产妇、唐筛结果为高风险、临界风险或单项指标异常、超声软指标等孕妇。在充分知情同意，进行遗传咨询后选择胎儿无创DNA产前检测，对检测结果为高风险孕妇进一步进行染色体核型分析，对低风险孕妇进行电话追踪随访。结果 553例孕妇外周血中，541例低风险，12例高风险，在高风险病例中7例提示21三体异常；2例提示18号染色体异常；1例提示13三体异常；2例提示胎儿性染色体异常；无创DNA检测结果为高风险的12例孕妇，均進行了羊水或脐血穿刺，7例21三体高风险中7例为47，XN，+21；2例18三体高风险者中1例为47，XN，+18，1例为46，XN；1例13三体高风险者中1例为47，XN，+13；2例性染色体异常中，1例为XXY，1例为45X。并对无创DNA检测阴性的出生新生儿进行随访，未诉明显异常。应用无创DNA检测技术诊断胎儿染色体疾病的敏感度为100.00%，特异度为99.91%，假阴性率为0，假阴性率为0.09%，无创DNA产前检测对21三体，13三体和性染色体的符合率为100.00%，对18三体的符合率为50.00%。结论 无创DNA检测技术在产前筛查中准确性高，假阳性和假阴性低的优点，可提高产前筛查效率，减少染色体疾病患儿的出生，是快捷、安全、较介入性产前诊断易于接受、值得推广的安全可靠的产前筛查方法，是今后发展的必然趋势。但无创DNA检测出的高风险孕妇，也必须进行羊水穿刺进一步确诊。
, 百拇医药
关键词：无创DNA检测技术；胎儿非整倍染色体疾病；无创产前筛查；临床应用
中图分类号：R440；R714.55 文献标识码：A DOI：10.3969/j.issn.1006-1959.2018.10.022
文章编号：1006-1959(2018)10-0073-04
Clinical Application of Noninvasive DNA Detection Technology in Prenatal Screening
FENG Ju-mei
(Guangyuan Maternal and Child Health Hospital，Guangyuan 628000，Sichuan，China)
, 百拇医药
Abstract：Objective To explore the clinical value and significance of noninvasive DNA gene detection technology in prenatal screening.Methods The retrospective analysis of 553 pregnant women，including pre maternity age≥35 years old，in our hospital in January 2017-January 2015，was high risk，critical risk or abnormal single index，and ultrasonic soft index.After fully informed consent，the prenatal detection of fetal noninvasive DNA was selected after genetic counseling.The chromosome karyotype analysis was carried out for the pregnant women with high risk，and the low risk pregnant women were followed up by telephone follow-up.Results In 553 pregnant women， 541 cases had low risk and 12 cases had high risk.Among the high risk cases，7 cases showed trisomy 21 abnormality，2 cases showed chromosome 18 abnormality，1 case showed 13 trisomy abnormality and 2 cases showed fetal sex chromosome abnormality.12 cases of high-risk non-invasive DNA test results were performed with amniocentesis or umbilical cord blood puncture.Among the 7 cases with high risk of trisomy 21，7 cases were of 47，XN，+21；Of the 2 cases of 18 trisomy high risk，1 were 47，XN，+18， 1 cases were 46，XN；1 cases 13 trisomy high risk patients，1 cases were 47，XN，+13；2 cases of sex chromosomal abnormalities，1 case was XXY and 1 was 45X.Follow up was also made for the neonates born with noninvasive DNA test，and no complaints were found.The sensitivity of the noninvasive DNA detection technique was 100.00%，the specificity was 99.91%，the false negative rate was 0，the false negative rate was 0.09%，the coincidence rate of noninvasive DNA prenatal detection for 21-3 body，13-3 body and sex chromosome was 100.00%，and the coincidence rate for 18-3 body was 50.00%. Conclusion Non invasive DNA detection technique has the advantages of high accuracy，false positive and low false negative in prenatal screening.It can improve the efficiency of prenatal screening and reduce the birth of children with chromosomal diseases.It is a safe and reliable prenatal screening method which is easy to be accepted and worthy of popularization.It is an inevitable trend in the future development.But noninvasive DNA detection of high-risk pregnant women must also be further diagnosed by amniocentesis., 百拇医药(冯菊梅)
, 百拇医药
关键词：无创DNA检测技术；胎儿非整倍染色体疾病；无创产前筛查；临床应用
中图分类号：R440；R714.55 文献标识码：A DOI：10.3969/j.issn.1006-1959.2018.10.022
文章编号：1006-1959(2018)10-0073-04
Clinical Application of Noninvasive DNA Detection Technology in Prenatal Screening
FENG Ju-mei
(Guangyuan Maternal and Child Health Hospital，Guangyuan 628000，Sichuan，China)
, 百拇医药
Abstract：Objective To explore the clinical value and significance of noninvasive DNA gene detection technology in prenatal screening.Methods The retrospective analysis of 553 pregnant women，including pre maternity age≥35 years old，in our hospital in January 2017-January 2015，was high risk，critical risk or abnormal single index，and ultrasonic soft index.After fully informed consent，the prenatal detection of fetal noninvasive DNA was selected after genetic counseling.The chromosome karyotype analysis was carried out for the pregnant women with high risk，and the low risk pregnant women were followed up by telephone follow-up.Results In 553 pregnant women， 541 cases had low risk and 12 cases had high risk.Among the high risk cases，7 cases showed trisomy 21 abnormality，2 cases showed chromosome 18 abnormality，1 case showed 13 trisomy abnormality and 2 cases showed fetal sex chromosome abnormality.12 cases of high-risk non-invasive DNA test results were performed with amniocentesis or umbilical cord blood puncture.Among the 7 cases with high risk of trisomy 21，7 cases were of 47，XN，+21；Of the 2 cases of 18 trisomy high risk，1 were 47，XN，+18， 1 cases were 46，XN；1 cases 13 trisomy high risk patients，1 cases were 47，XN，+13；2 cases of sex chromosomal abnormalities，1 case was XXY and 1 was 45X.Follow up was also made for the neonates born with noninvasive DNA test，and no complaints were found.The sensitivity of the noninvasive DNA detection technique was 100.00%，the specificity was 99.91%，the false negative rate was 0，the false negative rate was 0.09%，the coincidence rate of noninvasive DNA prenatal detection for 21-3 body，13-3 body and sex chromosome was 100.00%，and the coincidence rate for 18-3 body was 50.00%. Conclusion Non invasive DNA detection technique has the advantages of high accuracy，false positive and low false negative in prenatal screening.It can improve the efficiency of prenatal screening and reduce the birth of children with chromosomal diseases.It is a safe and reliable prenatal screening method which is easy to be accepted and worthy of popularization.It is an inevitable trend in the future development.But noninvasive DNA detection of high-risk pregnant women must also be further diagnosed by amniocentesis., 百拇医药(冯菊梅)