Article

Prenatal maternal plasma DNA screening for cystic fibrosis: A computer modelling study of screening performance

2017-10-27

Abstract excerpt

<h4>Background: </h4> 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. <h4>Methods: </h4>: 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....

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: affbedd3-9d4a-5508-b357-8589e8ceab8e
DOI: 10.12688/f1000research.12849.1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Prenatal maternal plasma DNA screening for cystic fibrosis: A computer modelling study of screening performanceDOI 10.12688/f1000research.12849.1Read

Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening.Semantic proximity Read

Analytic validity of cystic fibrosis testing: a preliminary estimate.Semantic proximity Read

Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.Semantic proximity Read

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.Semantic proximity Read

Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations.Semantic proximity Read

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.Semantic proximity Read

Targeted extended cystic fibrosis mutation testing on known and at-risk patients and relatives.Semantic proximity Read

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma.Semantic proximity Read

CFTR DeltaF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis?Semantic proximity Read

Prenatal diagnosis of cystic fibrosis: 10-years experience.Semantic proximity Read

Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations.Semantic proximity Read

Prenatal cystic fibrosis screening in a low-risk population undergoing chorionic villus sampling for fetal karyotyping.Semantic proximity Read