scholarly journals Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia

2016 ◽  
Vol 36 (5) ◽  
pp. 397-406 ◽  
Author(s):  
Lucie Orhant ◽  
Olivia Anselem ◽  
Mélanie Fradin ◽  
Pierre Hadrien Becker ◽  
Caroline Beugnet ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Digital Pcr ◽  
Maternal Blood ◽  
Droplet Digital Pcr ◽  
New Approach ◽  
Non Invasive ◽  
Fetal Dna

Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotype

2016 ◽  
Vol 74 (3) ◽  
pp. 269-277
Author(s):  
Lucie Orhant ◽  
Sophie Rondeau ◽  
Aurélie Vasson ◽  
Olivia Anselem ◽  
François Goffinet ◽  
...  
Keyword(s):  
Digital Pcr ◽  
Maternal Blood ◽  
Droplet Digital Pcr ◽  
New Approach ◽  
Fetal Dna

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR

2018 ◽  
Vol 56 (5) ◽  
pp. 728-738 ◽  
Author(s):  
Aurélia Gruber ◽  
Mathilde Pacault ◽  
Laila Allach El Khattabi ◽  
Nicolas Vaucouleur ◽  
Lucie Orhant ◽  
...  
Keyword(s):  
At Risk ◽  
Prenatal Diagnosis ◽  
Digital Pcr ◽  
Maternal Plasma ◽  
Droplet Digital Pcr ◽  
Compound Heterozygous ◽  
Inherited Disorders ◽  
Non Invasive ◽  
Cell Free Fetal Dna ◽  
Monogenic Diseases

Abstract Background: To limit risks of miscarriages associated with invasive procedures of current prenatal diagnosis practice, we aim to develop a personalized medicine-based protocol for non-invasive prenatal diagnosis (NIPD) of monogenic disorders relying on the detection of paternally inherited mutations in maternal blood using droplet digital PCR (ddPCR). Methods: This study included four couples at risk of transmitting paternal neurofibromatosis type 1 (NF1) mutations and four couples at risk of transmitting compound heterozygous CFTR mutations. NIPD was performed between 8 and 15 weeks of gestation, in parallel to conventional invasive diagnosis. We designed specific hydrolysis probes to detect the paternal mutation and to assess the presence of cell-free fetal DNA by ddPCR. Analytical performances of each assay were determined from paternal sample, an then fetal genotype was inferred from maternal plasma sample. Results: Presence or absence of the paternal mutant allele was correctly determined in all the studied plasma DNA samples. Conclusions: 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.

A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study

The Lancet ◽  
2007 ◽  
Vol 369 (9560) ◽  
pp. 474-481 ◽  
Author(s):  
Ravinder Dhallan ◽  
Xin Guo ◽  
Sarah Emche ◽  
Marian Damewood ◽  
Philip Bayliss ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Blood ◽  
Non Invasive ◽  
Fetal Dna ◽  
Invasive Test ◽  
Preliminary Study

Evaluation of droplet digital PCR for non-invasive prenatal diagnosis of phenylketonuria

2019 ◽  
Vol 411 (27) ◽  
pp. 7115-7126 ◽  
Author(s):  
Yousheng Yan ◽  
Fang Wang ◽  
Chuan Zhang ◽  
Xiaohua Jin ◽  
Qinhua Zhang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Non Invasive
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