在常规筛查的早孕期人群中进行胎儿三体的非侵入性产前检测。
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.
机构信息
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, King's College, London, England, UK.
出版信息
Am J Obstet Gynecol. 2012 Nov;207(5):374.e1-6. doi: 10.1016/j.ajog.2012.08.033. Epub 2012 Sep 19.
OBJECTIVE
We sought to assess performance of noninvasive prenatal testing for fetal trisomy in a routinely screened first-trimester pregnancy population.
STUDY DESIGN
This was a cohort study of 2049 pregnant women undergoing routine screening for aneuploidies at 11-13 weeks' gestation. Plasma cell-free DNA analysis using chromosome-selective sequencing was used. Laboratory testing on a single plasma sample of 2 mL was carried out blindly and results were provided as risk score (%) for trisomies 21 and 18.
RESULTS
Trisomy risk scores were given for 95.1% (1949 of 2049) of cases including all 8 with trisomy 21 and 2 of the 3 with trisomy 18. The trisomy risk score was >99% in the 8 cases of trisomy 21 and 2 of trisomy 18 and <1% in 99.9% (1937 of 1939) of euploid cases.
CONCLUSION
Noninvasive prenatal testing using chromosome-selective sequencing in a routinely screened population identified trisomies 21 and 18 with a false-positive rate of 0.1%.
目的
我们旨在评估非侵入性产前检测在常规筛查的早孕期妊娠人群中对胎儿三体性的检测性能。
研究设计
这是一项对 2049 名在 11-13 孕周进行常见非整倍体筛查的孕妇进行的队列研究。采用染色体选择性测序的游离血浆细胞 DNA 分析。对 2 毫升的单个血浆样本进行实验室盲检，结果以 21 三体和 18 三体的风险评分（%）表示。
结果
2049 例病例中有 95.1%（1949 例）获得了三体风险评分，包括所有 8 例 21 三体和 3 例 18 三体中的 2 例。8 例 21 三体的三体风险评分>99%，3 例 18 三体的三体风险评分<1%，99.9%（1937 例）的正常核型病例的评分<1%。
结论
在常规筛查人群中使用染色体选择性测序的非侵入性产前检测可检出 21 三体和 18 三体，假阳性率为 0.1%。
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