scholarly journals Non‐invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis

2015 ◽  
Vol 35 (10) ◽  
pp. 950-958 ◽  
Author(s):  
Melissa Hill ◽  
Philip Twiss ◽  
Talitha I. Verhoef ◽  
Suzanne Drury ◽  
Fiona McKay ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Cost Analysis ◽  
Patient Preferences ◽  
Non Invasive

Cell‐based non‐invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis

2020 ◽  
Author(s):  
Line Dahl Jeppesen ◽  
Lotte Hatt ◽  
Ripudaman Singh ◽  
Katarina Ravn ◽  
Mathias Kølvraa ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
At Risk ◽  
Prenatal Diagnosis ◽  
Non Invasive

scholarly journals Non‐invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways

2016 ◽  
Vol 36 (7) ◽  
pp. 636-642 ◽  
Author(s):  
Talitha I. Verhoef ◽  
Melissa Hill ◽  
Suzanne Drury ◽  
Sarah Mason ◽  
Lucy Jenkins ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cost Analysis ◽  
Single Gene ◽  
Non Invasive ◽  
Single Gene Disorders

Client Views and Attitudes to Non-Invasive Prenatal Diagnosis for Sickle Cell Disease, Thalassaemia and Cystic Fibrosis

2014 ◽  
Vol 23 (6) ◽  
pp. 1012-1021 ◽  
Author(s):  
Melissa Hill ◽  
Cecilia Compton ◽  
Madhavi Karunaratna ◽  
Celine Lewis ◽  
Lyn Chitty
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cell Disease ◽  
Non Invasive

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

2017 ◽  
Vol 16 (2) ◽  
pp. 198-206 ◽  
Author(s):  
C. Guissart ◽  
C. Dubucs ◽  
C. Raynal ◽  
A. Girardet ◽  
F. Tran Mau Them ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Non Invasive ◽  
Optimized Protocol ◽  
Fluorescent Pcr

Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis

2006 ◽  
Vol 26 (10) ◽  
pp. 906-916 ◽  
Author(s):  
Ali Saker ◽  
Alexandra Benachi ◽  
Jean Paul Bonnefont ◽  
Arnold Munnich ◽  
Yves Dumez ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Fetal Cells ◽  
Genetic Characterisation ◽  
Non Invasive

scholarly journals Development of a Specific Monoclonal Antibody to Detect Male Cells Expressing the RPS4Y1 Protein

2021 ◽  
Vol 22 (4) ◽  
pp. 2001
Author(s):  
Silvia Spena ◽  
Chiara Cordiglieri ◽  
Isabella Garagiola ◽  
Flora Peyvandi
Keyword(s):  
Monoclonal Antibody ◽  
Prenatal Diagnosis ◽  
Maternal Blood ◽  
Limiting Factors ◽  
Inherited Disease ◽  
Specific Monoclonal Antibody ◽  
Native Form ◽  
Fetal Cells ◽  
Non Invasive ◽  
Reliable Isolation

Hemophilia is an X-linked recessive bleeding disorder. In pregnant women carrier of hemophilia, the fetal sex can be determined by non-invasive analysis of fetal DNA circulating in the maternal blood. However, in case of a male fetus, conventional invasive procedures are required for the diagnosis of hemophilia. Fetal cells, circulating in the maternal bloodstream, are an ideal target for a safe non-invasive prenatal diagnosis. Nevertheless, the small number of cells and the lack of specific fetal markers have been the most limiting factors for their isolation. We aimed to develop monoclonal antibodies (mAbs) against the ribosomal protein RPS4Y1 expressed in male cells. By Western blotting, immunoprecipitation and immunofluorescence analyses performed on cell lysates from male human hepatoma (HepG2) and female human embryonic kidney (HEK293) we developed and characterized a specific monoclonal antibody against the native form of the male RPS4Y1 protein that can distinguish male from female cells. The availability of the RPS4Y1-targeting monoclonal antibody should facilitate the development of novel methods for the reliable isolation of male fetal cells from the maternal blood and their future use for non-invasive prenatal diagnosis of X-linked inherited disease such as hemophilia.

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