Premium
UK NHS pilot study on cell‐free DNA testing in screening for fetal trisomies: factors affecting uptake
Author(s) -
Gil M. M.,
Giunta G.,
Macalli E. A.,
Poon L. C.,
Nicolaides K. H.
Publication year - 2015
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.14683
Subject(s) - medicine , dna , cell free fetal dna , fetus , genetics , pregnancy , prenatal diagnosis , biology
Objective This study reports on the clinical implementation of cell‐free DNA (cf DNA ) testing, contingent on the results of the combined test, in screening for fetal trisomies 21, 18 and 13 in two UK National Health Service hospitals. Women with a combined‐test risk of ≥ 1:100 (high risk) were offered the options of chorionic villus sampling ( CVS ), cf DNA testing or no further testing and those with a risk of 1:101 to 1:2500 (intermediate risk) were offered cf DNA or no further testing. The objective of the study was to examine the factors affecting patient decisions concerning their options. Methods Combined screening was performed in 6651 singleton pregnancies in which the risk for trisomies was high in 260 (3.9%), intermediate in 2017 (30.3%) and low in 4374 (65.8%). Logistic regression analysis was used to determine which factors among maternal characteristics, fetal nuchal translucency thickness ( NT ) and risk for trisomies were significant predictors of opting for CVS in the high‐risk group and opting for cf DNA testing in the intermediate‐risk group. Results In the high‐risk group, 104 (40.0%) women opted for CVS ; predictors for CVS were increasing fetal NT and increasing risk for trisomies, while the predictor against CVS was being of Afro‐Caribbean racial origin ( r = 0.366). In the intermediate‐risk group, 1850 (91.7%) women opted for cf DNA testing; predictors for cf DNA testing were increasing maternal age, increasing risk for trisomies and university education, while predictors against cf DNA testing were being of Afro‐Caribbean racial origin, smoking and being parous (r = 0.105). Conclusions This study has identified factors that can influence the decision of women undergoing combined screening in favor of or against CVS and in favor of or against cf DNA testing. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.