High Positive Predictive Value (PPV) of Cell-Free DNA (cfDNA) Testing in a Clinical Study of 10,000 Consecutive Pregnancies
High Positive Predictive Value (PPV) of Cell-Free DNA (cfDNA) Testing in a Clinical Study of 10,000 Consecutive Pregnancies
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10,000 例连续妊娠临床研究中游离 DNA (cfDNA) 检测的高阳性预测值 (PPV)
DOI：
10.4172/2155-9929.1000285
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发表时间：
2016
期刊：
影响因子：
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通讯作者：
A. Vereecken
中科院分区：
文献类型：
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作者：
Willemse Pj;H. Dierickx;N. Segers;C. Castenmiller;S. Verschueren;K. DeBoulle;enakker Es;D. Bekedam;W. VanWijngaarden;Engelen Mc;P. Engelen;M. Militaru;H. DePuydt;S. Six;P. Poeschmann;van Rheenen;E. BenušienÄ;Janssens Pm;H. Wildschut;B. Weber;H. Man;S. Stoica;A. Momirovska;B. Klaassen;I. Mālniece;I. Grīnfelde;A. Brezigar;L. KorÅejeva;D. Topalov;L. Boekweit;F. Mestdach;G. Bouwens;Valkenburg Mh;M. Dewulf;T. Spiritus;W. Top;M. Badura;R. Rijnders;I. GauglerSenden;Que Dg;E. Vercammen;E. Kuyken;H. Coppens;J. Schotten;S. DeSpiegeleer;P. Vanparijs;K. Witters;M. Coenen;W. Nuradi;S. Martens;G. Vandenbosch;De Baets Ggd;Wuyts Km;P. Janssens;Čulić;R. Vulić;G. Vlaemynck;L. Jochems;K. Muyldermans;P. Albertyn;T. Bovyn;Z. CrnogoracIliÄ;M. IliÄ;M. Ldrissi;L. Machtelinckx;T. Zamani;D. Smet;Catry;S. Deweert;Anttonen Ak;A. Vereecken
背景：孕妇外周血中游离DNA(CfDNA)检测胎儿唐氏综合征正逐步取代妊娠早期筛查。我们在这里介绍一个连续10,000次妊娠的大型临床系列。
目的：探讨孕妇外周血中游离DNA(CfDNA)检测胎儿21、18、13三体的可靠性。CfDNA检测在越来越多的妊娠中得到了评估，主要是胎儿三体的高危人群，一些研究表明，在低风险人群中，其阳性预测值(PPV)可能较低。
研究设计：对10,000名胎儿21、18和13三体先验风险高或低的孕妇进行了使用Harmony™产前检测的cfDNA检测。
结果：在10,000例孕妇中，高危cfDNA检测147例(1.47%)，其中21三体121例，18三体15例，13三体11例。未检出5个三体(2个21三体，2个18三体，1个13三体)。记录了5个假阳性结果(4个在高危人群中，1个在低危人群中)。总体阳性预测值(PPV)为96%，其中高危(1/200)人群的PPV为96%，低危(<；1/200)人群的PPV为97%。
结论：在这个有10,000个连续妊娠的大型临床系列中，cfDNA检测在检测胎儿21、18和13三体方面非常可靠，在高危和低危人群中都有非常高的PPV。
Background: Cell-free DNA (cfDNA) analysis in maternal blood for the detection of fetal Down syndrome is gradually replacing first trimester screening. We present here a large clinical series of 10,000 consecutive pregnancies.
Objectives: To study the reliability of cell-free DNA (cfDNA) analysis in maternal blood for the detection of fetal trisomy 21, 18 and 13 in a clinical setting in 10,000 consecutive pregnancies with variable risk. cfDNA testing has been evaluated in an increasing number of pregnancies mainly at high risk for fetal trisomy, and some studies have suggested that its positive predictive value (PPV) might be lower in low-risk populations.
Study design: CfDNA testing using the Harmony™ Prenatal Test was performed in 10,000 consecutive pregnancies with high or low a-priori risk for fetal trisomy 21, 18 and 13.
Results: In 147 (1.47%) of the 10,000 pregnancies a high-risk cfDNA testing result indicated trisomy 21 (n=121), trisomy 18 (n=15) or trisomy 13 (n=11). It failed to detect 5 trisomies (2 trisomies 21, 2 trisomies 18, and 1 trisomy 13). Five false-positive results were recorded (4 in the high and 1 in the low risk population). The overall positive predictive value (PPV) was 96%, with a PPV of 96% in the high-risk (>1/200) population and 97% in the low risk (<1/200) population.
Conclusions: In this large clinical series of 10,000 consecutive pregnancies, cfDNA testing proved very reliable in detecting fetal trisomy 21, 18 and 13, with a very high PPV both in high and low risk populations.