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Research Article
High Positive Predictive Value (PPV) of Cell-Free DNA (cfDNA) Testing in a Clinical Study of 10,000 Consecutive Pregnancies
Author(s): Willems PJ, Dierickx H, Segers N, Castenmiller C, Verschueren S, DeBoulle K, Vandenakker ES, Bekedam D, Van Wijngaarden W, Engelen MC, Engelen P, Militaru M, De Puydt H, Six S, Poeschmann P, van Rheenen-Flach LE, Benušiene E, Janssens PM, Wildschut H, Weber B, Landman H, Stoica S, Momirovska A, Klaassen B, Malniece I, Grinfelde I, Brezigar A, Kornejeva L, Topalov D, Boekweit L, Mestdach F, Bouwens G, Valkenburg MH, Dewulf M, Spiritus T, Top W, Badura-Stronka M, Rijnders R, Gaugler Senden I, Que DG, Vercammen E, Kuyken E, Coppens H, Schotten J, De Spiegeleer S, Vanparijs P, Witters K, Coenen M, Nuradi W, Martens S, Van den Bosch G, De Baets GGD, Wuyts KM, Janssens P, Culic V, Vulic R, Vlaemynck G, Jochems L, Muyldermans K, Albertyn P, Bovyn T, Crnogorac Ilic Z, Ilic M, Ldrissi M, Machtelinckx L, Zamani T, Smet D, Catry V, Deweert S, Anttonen AK and Vereecken AWillems PJ, Dierickx H, Segers N, Castenmiller C, Verschueren S, DeBoulle K, Vandenakker ES, Bekedam D, Van Wijngaarden W, Engelen MC, Engelen P, Militaru M, De Puydt H, Six S, Poeschmann P, van Rheenen-Flach LE, Benušiene E, Janssens PM, Wildschut H, Weber B, Landman H, Stoica S, Momirovska A, Klaassen B, Malniece I, Grinfelde I, Brezigar A, Kornejeva L, Topalov D, Boekweit L, Mestdach F, Bouwens G, Valkenburg MH, Dewulf M, Spiritus T, Top W, Badura-Stronka M, Rijnders R, Gaugler Senden I, Que DG, Vercammen E, Kuyken E, Coppens H, Schotten J, De Spiegeleer S, Vanparijs P, Witters K, Coenen M, Nuradi W, Martens S, Van den Bosch G, De Baets GGD, Wuyts KM, Janssens P, Culic V, Vulic R, Vlaemynck G, Jochems L, Muyldermans K, Albertyn P, Bovyn T, Crnogorac Ilic Z, Ilic M, Ldrissi M, Machtelinckx L, Zamani T, Smet D, Catry V, Deweert S, Anttonen AK and Vereecken A
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 triso.. Read More»
DOI:
10.4172/2155-9929.1000285
Molecular Biomarkers & Diagnosis received 2054 citations as per Google Scholar report