Old, RW;
Bestwick, JP;
Wald, NJ;
(2017)
Prenatal maternal plasma DNA screening for cystic fibrosis: A computer modelling study of screening performance.
F1000Research
, 6
, Article 1896. 10.12688/f1000research.12849.1.
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Abstract
Background: Prenatal cystic fibrosis (CF) screening is currently based on determining the carrier status of both parents. We propose a new method based only on the analysis of DNA in maternal plasma. Methods: The method relies on the quantitative amplification of the CF gene to determine the percentage of DNA fragments in maternal plasma at targeted CF mutation sites that carry a CF mutation. Computer modelling was carried out to estimate the distributions of these percentages in pregnancies with and without a fetus affected with CF. This was done according to the number of DNA fragments counted and fetal fraction, using the 23 CF mutations recommended by the American College of Medical Genetics for parental carrier testing. Results: The estimated detection rate (sensitivity) is 70% (100% of those detected using the 23 mutations), the false-positive rate 0.002%, and the odds of being affected given a positive screening result 14:1, compared with 70%, 0.12%, and 1:3, respectively, with current prenatal screening based on parental carrier testing. Conclusions: Compared with current screening practice based on parental carrier testing, the proposed method would substantially reduce the number of invasive diagnostic procedures (amniocentesis or chorionic villus sampling) without reducing the CF detection rate. The expected advantages of the proposed method justify carrying out the necessary test development for use in a clinical validation study.
| Type: | Article |
|---|---|
| Title: | Prenatal maternal plasma DNA screening for cystic fibrosis: A computer modelling study of screening performance |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.12688/f1000research.12849.1 |
| Publisher version: | http://dx.doi.org/10.12688/f1000research.12849.1 |
| Language: | English |
| Additional information: | Copyright: © 2017 Old RW et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | DNA sequencing, cystic fibrosis, prenatal screening |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10116418 |
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