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Performance of antenatal reflex DNA screening for Down's syndrome.

Performance of antenatal reflex DNA screening for Down's syndrome.

Authors :
Wald NJ
Bestwick JP
Source :
Journal of medical screening [J Med Screen] 2015 Dec; Vol. 22 (4), pp. 168-74. Date of Electronic Publication: 2015 Apr 16.
Publication Year :
2015

Abstract

Objective: Maternal plasma DNA analysis has a high but imperfect antenatal Down's syndrome screening performance. We aimed to determine the effect of combining DNA testing with current tests.<br />Methods: In our modelled screening protocol, women provide two samples, one serum sample for a Combined test, and a plasma sample for a possible DNA test. Women with a Combined test risk above a specified level have a DNA test using the plasma sample without the need to recall them for another sample and counselling (ie. in a reflex manner). Women with a failed DNA test after a second attempt using a fresh plasma sample have an Integrated test. Screening performance was estimated according to the proportion of women reflexed to DNA testing and compared with universal DNA testing.<br />Results: Reflexing 10% of women to a DNA test yields a 91% detection rate (DR) for a 0.025% false-positive rate (FPR) and no failed tests, compared with a 98% DR, 0.2% FPR and a 2.5% test failure rate with universal DNA testing (94% for 0.046% if 20% reflexed). DNA test failure rate has little influence on screening performance<br />Conclusion: Reflex DNA testing substantially reduces the FPR with a relatively small loss in detection compared with universal DNA testing, and reduces patient anxiety by avoiding the recall of women for DNA testing.<br /> (© The Author(s) 2015.)

Details

Language :
English
ISSN :
1475-5793
Volume :
22
Issue :
4
Database :
MEDLINE
Journal :
Journal of medical screening
Publication Type :
Academic Journal
Accession number :
25882667
Full Text :
https://doi.org/10.1177/0969141315581005