无创产前基因检测双胎21、18和13-三体综合征的应用研究

发布时间：2019-01-20 10:39

【摘要】：目的探讨无创产前基因检测(NIPT)双胎21、18和13-三体综合征在临床应用的可行性。方法选取2012年8月至2014年11月在广州医科大学附属第三医院胎儿医学中心或佛山市妇幼保健院产科中心就诊的双胎妊娠孕妇,其中同意行NIPT检测者共215例,通过对孕妇血浆游离DNA测序来检测胎儿患21、18和13-三体综合征的风险。染色体核型检查是验证NIPT检测准确性的金标准,新生儿体格检查作为辅助检验标准。结果 3例NIPT检测结果提示为21-三体综合征高风险,经染色体核型检查证实均为双胎之一21-三体综合征;余212例NIPT检测结果为低风险,染色体核型或新生儿体格检查中均未发现异常。本研究中NIPT检测双胎21、18和13-三体综合征的准确性为100%,并降低了侵入性产前诊断的发生率。结论 NIPT检测双胎21、18和13-三体综合征是产前筛查的一种新选择,将其投入临床应用具有一定可行性。
[Abstract]:Objective to investigate the clinical feasibility of non-invasive prenatal gene detection of (NIPT) twins 21 ~ 18 and 13-trisomy syndrome. Methods Twin pregnant women were selected from August 2012 to November 2014 in the Fetal Medical Center of the third affiliated Hospital of Guangzhou Medical University or the obstetrical center of Foshan Maternal and Child Health Hospital. There were 215 pregnant women who agreed to NIPT test. Maternal plasma free DNA sequencing was used to detect the risk of 21 ~ 18 and 13-trisomy syndrome. Chromosome karyotype examination is the gold standard to verify the accuracy of NIPT test, and neonatal physical examination is the auxiliary test standard. Results the results of NIPT showed that there was a high risk of 21 trisomy syndrome, and all of them were confirmed as 21 trisomy syndrome by chromosome karyotype. The results of NIPT in the remaining 212 cases showed low risk and no abnormality was found in chromosome karyotype or neonatal physical examination. In this study, the accuracy of NIPT in the detection of twin 21 ~ (18) and 13-trisomy syndrome was 100, and the incidence of invasive prenatal diagnosis was reduced. Conclusion NIPT is a new choice for prenatal screening of twin twins with 21, 18 and 13-trisomy syndrome, and it is feasible to apply it to clinical practice.
【作者单位】：广州医科大学附属第三医院妇产科研究所;广州医科大学附属第三医院产前诊断和胎儿医学中心;佛山市妇幼保健院产科;深圳华大基因研究院;
【基金】：广州市科技计划项目(穗科信字[2014]234号);广州市科技计划项目(201604020078) 国家自然科学基金(81671470) 国家公益性行业科研专项(201402006) 广东省自然科学基金(2016A030313610) 广东省科技计划项目(2013B022000005)
【分类号】：R440;R714.5

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