New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma  Ana Bustamante-Aragones, Jesus Gallego-Merlo,

Slides:



Advertisements
Similar presentations
J.H.K. Hull, W. Tucker, A.G. Hatrick, R.K. Knight, T.B.L. Ho 
Advertisements

Comparing age of cystic fibrosis diagnosis and treatment initiation after newborn screening with two common strategies  Don B. Sanders, Huichuan J. Lai,
Cheryl Cameron, Mark W. Lodes, William M. Gershan 
Poor growth in an infant with cystic fibrosis due to an antenatal perforation and incomplete bowel obstruction  Isobel Brookes, Maya Desai, Gillian Duthie,
Treatment compliance in children and adults with Cystic Fibrosis
CFTR mutation in an Arab patient: Clinical and functional features of 875+1G→A/875+1G→A genotype  Elide Spinelli, Manuela Seia, Paola Melotti, Eleonora.
Cystic fibrosis, gastroduodenal inflammation, duodenal ulcer, and H
Cystic fibrosis: A new mutation in the Lebanese population
R. Roberts, L. Speight, J. Lee, L. George, R. I. Ketchell, D. Lau, J
How does heart rate recovery after sub-maximal exercise correlate with maximal exercise testing in children with CF?  Sarah P. Cohen, David M. Orenstein 
Avani C. Modi, Crystal S. Lim, Nami Yu, David Geller, Mary H
Scott D. Sagel, Marci K. Sontag, Meg M
J.H.K. Hull, W. Tucker, A.G. Hatrick, R.K. Knight, T.B.L. Ho 
Megan R. Nelson, Craig R. Adamski, Audrey Tluczek 
Urinary incontinence in 9���16��year olds with cystic fibrosis compared to other respiratory conditions and a normal group  W.J. Browne, C.J. Wood, M.
Measures of body habitus are associated with lung function in adults with cystic fibrosis: A population-based study  Doug L. Forrester, Alan J. Knox,
Microbiological yield from induced sputum compared to oropharyngeal swab in young children with cystic fibrosis  Marco Zampoli, Komala Pillay, Henri Carrara,
Laura Viviani, Baroukh M. Assael, Eitan Kerem 
Cirrhosis and other liver disease in cystic fibrosis
Visual detection of IS6110 of Mycobacterium tuberculosis in sputum samples using a test based on colloidal gold and latex beads  P. Upadhyay, M. Hanif,
Katelyn Krivchenia, Don Hayes, Joseph D. Tobias, Dmitry Tumin 
The ease of breathing test tracks clinical changes in cystic fibrosis
Computed tomography correlates with improvement with ivacaftor in cystic fibrosis patients with G551D mutation  Shahid I. Sheikh, Frederick R. Long, Karen.
Controlled clinical trials in cystic fibrosis — are we doing better?
Anju Anand, Elizabeth Tullis, Anne Stephenson, Preyanka Abhyankar 
D. Stevens, P.J. Oades, N. Armstrong, C.A. Williams 
Claire J. Tipping, Rebecca L. Scholes, Narelle S. Cox 
Cystic fibrosis mortality trend in Italy from 1970 to 2011
Evaluation of salt supplementation in CF infants
Gerd Döring, Patrick Flume, Harry Heijerman, J. Stuart Elborn 
Prenatal diagnosis for CF using High Resolution Melting Analysis and simultaneous haplotype analysis through QF-PCR  Myrto Poulou, Aspasia Destouni, Georgia.
A.H. Gifford  Journal of Cystic Fibrosis 
Inhalation solutions — Which ones may be mixed
Physiologic endpoints for clinical studies for cystic fibrosis
Antonia V. Bennett, Donald L. Patrick, James F. Lymp, Todd C
Characterisation of mutations and genotype–phenotype correlation in cystic fibrosis: Experience from India  Shivaram S. Shastri, Madhulika Kabra, Sushil.
Optimizing strategies for CFTR molecular testing
E. Tschiedel, H. Grasemann, F. Ratjen  Journal of Cystic Fibrosis 
Colon Cancer in Cystic Fibrosis patients: Is this a growing problem?
Sally H. Pattison, Geraint B. Rogers, Martin Crockard, J
Cytokine gene polymorphisms and severity of CF lung disease
Stenotrophomonas maltophilia in cystic fibrosis: Improved detection by the use of selective agar and evaluation of antimicrobial resistance  P. Goncalves-Vidigal,
Narelle S. Cox, Jennifer Follett, Karen O. McKay 
Pharmacokinetics and sputum penetration of azithromycin during once weekly dosing in cystic fibrosis patients  E.B. Wilms, D.J. Touw, H.G.M. Heijerman 
Effect of ivacaftor in patients with advanced cystic fibrosis and a G551D-CFTR mutation: Safety and efficacy in an expanded access program in the United.
Paternity in men with cystic fibrosis: a retrospective survey in France  Ingrid Duguépéroux, Dominique Hubert, Stéphane Dominique, Gil Bellis, Marc De.
Nutritional decline in cystic fibrosis related diabetes: The effect of intensive nutritional intervention  H. White, K. Pollard, C. Etherington, I. Clifton,
Gender differences in treatment adherence among youth with cystic fibrosis: Development of a new questionnaire  Joän M. Patterson, Melanie Wall, Jerica.
Respiratory pathogens mediate the association between lung function and temperature in cystic fibrosis  Joseph M. Collaco, Karen S. Raraigh, Lawrence.
Trends in pathogens colonising the respiratory tract of adult patients with cystic fibrosis, 1985–2005  F.A. Millar, N.J. Simmonds, M.E. Hodson  Journal.
F. Vermeulen, P. Lebecque, K. De Boeck, T. Leal 
Successful treatment of cepacia syndrome with a combination of intravenous cyclosporin, antibiotics and oral corticosteroids  Francis J. Gilchrist, A.
V. Thompson, N. Mayer-Hamblett, M. Kloster, D. Bilton, P.A. Flume 
Stability of interleukin 8 and neutrophil elastase in bronchoalveolar lavage fluid following long-term storage  Luke J. Berry, Barbara Sheil, Luke Garratt,
Comparing age of cystic fibrosis diagnosis and treatment initiation after newborn screening with two common strategies  Don B. Sanders, Huichuan J. Lai,
J.E. Spahr, R.B. Love, M. Francois, K. Radford, K.C. Meyer 
Daniel J. Smith, Gregory J. Anderson, Scott C. Bell, David W. Reid 
D.F. Waterhouse, A.M. McLaughlin, C.G. Gallagher 
Gut dysbiosis in cystic fibrosis
CFTR modulators and pregnancy: Our work has only just begun
‘Peeling paint’ dermatitis as a presenting sign of cystic fibrosis
L. Nshimyumukiza, A. Bois, P. Daigneault, L. Lands, A. -M. Laberge, D
Cheryl Cameron, Mark W. Lodes, William M. Gershan 
Lutz Goldbeck, Sven Zerrer, Tim G. Schmitz  Journal of Cystic Fibrosis 
Khin M. Gyi, Margaret E. Hodson, Magdi Y. Yacoub 
David Adeboyeku, Sandra Scott, Margaret E. Hodson 
Elisabeth P. Dellon, Margaret W. Leigh, James R. Yankaskas, Terry L
Improved early diagnosis of Pseudomonas aeruginosa by real-time PCR to prevent chronic colonisation in a paediatric cystic fibrosis population  Elaine.
Cystic fibrosis and pregnancy in the modern era: A case control study
Early aggressive eradication therapy for intermittent Pseudomonas aeruginosa airway colonization in cystic fibrosis patients: 15 years experience  C.R.
Presentation transcript:

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma  Ana Bustamante-Aragones, Jesus Gallego-Merlo, Maria Jose Trujillo-Tiebas, Marta Rodriguez de Alba, Cristina Gonzalez-Gonzalez, Guillermo Glover, Dan Diego-Alvarez, Carmen Ayuso, Carmen Ramos  Journal of Cystic Fibrosis  Volume 7, Issue 6, Pages 505-510 (November 2008) DOI: 10.1016/j.jcf.2008.05.006 Copyright © 2008 European Cystic Fibrosis Society Terms and Conditions

Fig. 1 Electropherograms of the parental DNA controls (Mother, as negative control and Father, as positive control) and the maternal plasma samples (Plasma) of each case. x axis, computed length of PCR products in base pairs as determined automatically by the use of internal lane standard; y axis, fluorescence intensities in arbitrary units. The arrows show the peak which represents the mutation. Case 1: Wild-type and mutated nucleotide (paternal mutation) are present in the plasma sample. Case 2: The electropherogram of the plasma sample is similar to the one presented by the maternal DNA, only the wild-type nucleotide is present. Case 3: In Plasma 1 (sample collected during the 12th week of gestation) and in Plasma 2 (sample collected during the 15th week of gestation), the peak associated with the paternal mutation is detected. Journal of Cystic Fibrosis 2008 7, 505-510DOI: (10.1016/j.jcf.2008.05.006) Copyright © 2008 European Cystic Fibrosis Society Terms and Conditions