Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Aurélia GruberMathilde PacaultLaila Allach El KhattabiNicolas VaucouleurLucie OrhantThierry BienvenuEmmanuelle GirodonDominique VidaudFrance LeturcqCatherine CostaFranck LetourneurOlivia AnselemVassilis TsatsarisFrançois GoffinetGéraldine ViotMichel VidaudJuliette NectouxPublished in: Clinical chemistry and laboratory medicine (2019)
We report an NIPD protocol suitable for implementation in an experienced laboratory of molecular genetics. Our proof-of-principle results point out a high accuracy for early detection of paternal NF1 and CFTR mutations in cell-free DNA, and open new perspectives for extending the technology to NIPD of many other monogenic diseases.
Keyphrases
- cystic fibrosis
- signaling pathway
- lps induced
- pi k akt
- nuclear factor
- real time pcr
- oxidative stress
- randomized controlled trial
- healthcare
- primary care
- minimally invasive
- high throughput
- single cell
- inflammatory response
- label free
- toll like receptor
- body mass index
- single molecule
- cell proliferation
- physical activity
- weight loss
- weight gain