Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
复制标题
DOI：
10.1016/j.ajog.2012.01.029
复制
发表时间：
2012-04-01
影响因子：
9.8
通讯作者：
Nicolaides, Kypros H.
中科院分区：
文献类型：
--
作者：
Ashoor, Ghalia;Syngelaki, Argyro;Nicolaides, Kypros H.
目的：本研究的目的是通过对孕妇血浆游离DNA进行染色体选择性测序，评估21和18三体的产前检出率和假阳性率。对300例整倍体妊娠，50例21三体妊娠，和50例18三体妊娠。实验室人员对胎儿核型不知情。结果：400个样本中有397个被分析，21和18三体的风险评分。在所有50例21三体病例中，21三体的风险评分>= 99%，18三体的风险评分为
OBJECTIVE: The purpose of this study was to assess the prenatal detection rate of trisomy 21 and 18 and the false-positive rate by chromosome-selective sequencing of maternal plasma cell-free DNA.STUDY DESIGN: Nested case-control study of cell-free DNA was examined in plasma that was obtained at 11-13 weeks before chorionic villous sampling from 300 euploid pregnancies, 50 pregnancies with trisomy 21, and 50 pregnancies with trisomy 18. Laboratory personnel were blinded to fetal karyotype.RESULTS: Risk scores for trisomy 21 and 18 were given for 397 of the 400 samples that were analyzed. In all 50 cases of trisomy 21, the risk score for trisomy 21 was >= 99%, and the risk score for trisomy 18 was