Poon L C, Dumidrascu-Diris D, Francisco C, Fantasia I, Nicolaides K H
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
Ultrasound Obstet Gynecol. 2016 Feb;47(2):184-7. doi: 10.1002/uog.15749. Epub 2015 Dec 28.
To assess the potential performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using the IONA® test.
This was a nested case-control study of cfDNA analysis of maternal plasma using the IONA test. Samples were obtained at 11-13 weeks' gestation, before chorionic villus sampling, from 201 euploid pregnancies, 35 with trisomy 21, four with trisomy 18 and two with trisomy 13. Laboratory personnel were blinded to the fetal karyotype.
Probability scores for trisomies 21, 18 and 13 were given for 241/242 samples analyzed. No probability score was provided for one (0.5%) euploid pregnancy because of low fetal fraction. In all 35 cases of trisomy 21 the probability score for trisomy 21 was > 95% and the scores for trisomies 18 and 13 were ≤ 0.0001%. In all four cases of trisomy 18, the probability score for trisomy 18 was > 77% and the scores for trisomies 21 and 13 were ≤ 0.0001%. In the two cases of trisomy 13, the probability score for trisomy 13 was > 59% and the scores for trisomies 21 and 18 were ≤ 0.0001%. In the 200 euploid pregnancies with a test result, the probability score was < 0.08% for trisomy 21, < 0.001% for trisomy 18 and < 0.002% for trisomy 13. Therefore, the IONA test detected 100% of all three trisomies, with a false-positive rate of 0%.
The IONA test successfully differentiated all cases of trisomies 21, 18 and 13 from euploid pregnancies.
使用IONA®检测通过对孕妇血液进行游离DNA（cfDNA）分析来评估筛查胎儿21、18和13三体综合征的潜在性能。
这是一项对使用IONA检测的孕妇血浆cfDNA分析进行的巢式病例对照研究。样本在妊娠11 - 13周、绒毛取样前采集，来自201例整倍体妊娠、35例21三体妊娠、4例18三体妊娠和2例13三体妊娠。实验室工作人员对胎儿核型不知情。
对分析的241/242个样本给出了21、18和13三体的概率分数。由于胎儿分数低，1例（0.5%）整倍体妊娠未给出概率分数。在所有35例21三体病例中，21三体的概率分数>95%，18和13三体的分数≤0.0001%。在所有4例18三体病例中，18三体的概率分数>77%，21和13三体的分数≤0.0001%。在2例13三体病例中，13三体的概率分数>59%，21和18三体的分数≤0.0001%。在有检测结果的200例整倍体妊娠中，21三体的概率分数<0.08%，18三体<0.001%，13三体<0.002%。因此，IONA检测检测出了所有三种三体综合征的全部病例，假阳性率为0%。
IONA检测成功地将所有21、18和13三体病例与整倍体妊娠区分开来。
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