无创产前基因检测技术在双胎妊娠中的应用价值

Application value of non-invasive prenatal genetic testing technology in twin pregnancy

目的探讨无创产前基因检测(NIPT)技术在双胎妊娠中的应用价值。方法连续回顾性纳入2019年7月1日至2021年6月30日大连市妇女儿童医疗中心(集团)、大连市金普新区妇幼保健院、大连市旅顺口区人民医院行NIPT检测的339例双胎妊娠孕妇,分析孕妇的检测结果,比较高风险与低风险孕妇的临床特征。结果339例孕妇中检测成功336例,成功率为99.12%(336/339);6例孕妇NIPT检测提示高风险,筛查阳性率为1.77%(6/339),包括1例13-三体高风险,2例18-三体高风险,3例21-三体高风险;2例高风险孕妇行羊水穿刺结果未见异常。结论NIPT检测技术无创、安全、高效,适宜用于产前大规模筛查,但对双胎妊娠孕妇的检测准确度仍有待改进。

Objective To explore the application value of non-invasive prenatal testing(NIPT)technology in twin pregnancy.Methods A total of 339 twin pregnant women who underwent NIPT at Dalian Municipal Women and Children′s Medical Center(Group),Dalian Jinpu New District Maternity and Child Health Hospital,and Dalian Lvshunkou District People′s Hospital from July 1,2019 to June 30,2021 were continuously retrospectively included.The clinical characteristics and test results of pregnant women with high-risk and low-risk were analyzed.Results Among 339 pregnant women,336 were successfully tested,with a success rate of 99.12%(336/339);6 pregnant women were at high risk of NIPT,with a positive screening rate of 1.77%(6/339),including 1 case of high risk of trisomy 13,2 cases of high risk of trisomy 18,and 3 cases of high risk of Trisomy 21;the results of amniocentesis for 2 high-risk pregnant women were not abnormal.Conclusions NIPT technology is non-invasive,safe and efficient,and is suitable for large-scale prenatal screening.However,the detection accuracy of pregnant women with twin pregnancy needs to be improved.