A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity

Open Access

Peer-reviewed

Research Article

Emmanuel Debrand,

Affiliation West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham, B15 2TG, United Kingdom
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Alexandra Lykoudi,

Affiliations West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham, B15 2TG, United Kingdom, Department of Medical Genetics, Athens University, Agia Sofia Children's Hospital, 11527, Athens, Greece
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Elizabeth Bradshaw,

Affiliation West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham, B15 2TG, United Kingdom
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Stephanie K. Allen

* E-mail: Stephanie.Allen@bwnft.nhs.uk

Affiliation West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham, B15 2TG, United Kingdom
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Pregnancy
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Fetuses
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Cystic fibrosis
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Polymerase chain reaction
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DNA extraction
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Heterozygosity
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Mutation
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Prenatal diagnosis
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