摘要
目的探讨无创产前基因检测技术在产前筛查和产前诊断临床应用中的适用性和准确性。方法对厦门市妇幼保健院11118例孕妇的无创产前基因检测结果进行回顾性分析,将孕妇分为高龄组和非高龄组,非高龄组再分为高风险A组、中风险B组和首选无创C组,对无创检测结果异常的孕妇建议进行介入性产前诊断,行胎儿染色体核型分析。结果11118例孕妇共有124例检测结果异常,检出率1.12%,其中高风险A组的检出率最高,达1.76%。最终有1 06例孕妇接受介入性产前诊断,确诊胎儿染色体异常78例,阳性预测值73.58%,其中确诊21三体47例,阳性预测值92.16%;确诊18三体11例,阳性预测值91.67%;确诊13三体4例,阳性预测值36.36%;确诊性染色体异常16例,阳性预测值59.26%。结论对于高龄孕妇和唐氏筛查高风险或临界风险的孕妇而言,无创产前基因检测技术具有较高的临床实际应用价值,可作为传统产前诊断技术的有效辅助手段。但存在假阳性率,必须通过胎儿染色体核型加以验证。
Objective： To explore the accuracy and applicability about non-invasive prenatal test （NIPT） technology in prenatal screening and diagnosis. Methods： 11 118 pregnant women with NIPT results were divided into advanced maternal age group and non-advanced maternal age group, the non-advanced maternal age group was subdivided into Group A （high risk about maternal serum screening） , Group B （critical risk about maternal serum screening） , Group C （preferred alternative） . Amniocentesis or cordocentesis were suggested to pregnant women with abnormal NIPT results for fetal chromosomal karyotype. Results： A total of 124 abnormal NIPT results were detected for a prevalence rate of 1.12%. Amniocentesis or cordocentesis were done on 106 cases. 78 fetuses with chromosomal aneuploidies of 13/18/21/X/Y were identified, which include 47 cases with trisomy 21, 11 cases with trisomy 18, 4 cases with trisomy 13 and 16 cases with sex chromosomal aneuploidies. The positive predictive value of trisomy 21 is 92.16%, trisomy 18 is 91.67%, trisomy 13 is 36.36%, sex chromosomal aneuploidies is 59.26%. Conclusion： NIPT is a powerful and reliable methodology for noninvasive prenatal diagnosis, which suitable for pregnant women with advanced maternal age or with high risk about maternal serum screening. However, there are still false positive cases in NIPT detection, so the abnormal cases still need to prenatal diagnosis.
作者
吴琦嫦
孙丽
许亚松
田婕
杨小梅
孙世宇
WU Qi-chang SUN Li XU Ya-song et al(Center of Prenatal Diagnosis, Maternal and Child Health Care Hospital of Xiamen, Xiamen361000, China)
出处
《中国优生与遗传杂志》
2017年第1期31-33,共3页
Chinese Journal of Birth Health & Heredity
关键词
无创产前基因检测
胎儿游离DNA
血清学筛查
高通量测序技术
Non-invasive prenatal testing
Cell-free fetal DNA
Maternal serum screening
High-throughput sequencing
