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

PLoS ONE

Volumn 10, Issue 11, 2015, Pages

  Debrand, Emmanuel ^a   Lykoudi, Alexandra ^a,b   Bradshaw, Elizabeth ^a   Allen, Stephanie K ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF ATHENS   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; CFTR PROTEIN, HUMAN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR DELTA F508; PRIMER DNA;

ALLELE; AMPLICON; ARTICLE; CELL FREE SYSTEM; CFTR GENE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; CYSTIC FIBROSIS; DROPLET DIGITAL POLYMERASE CHAIN REACTION; EXON; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; GENE; GENE MUTATION; GENETIC RISK; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; NON INVASIVE MEASUREMENT; PEDIGREE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; QUANTITATIVE ANALYSIS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FATHER; GENETICS; HETEROZYGOTE; MUTATION; PREGNANCY; PROCEDURES; RISK FACTOR;

ALLELES; CELL-FREE SYSTEM; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FAMILY HEALTH; FATHERS; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; RISK FACTORS;

EID: 84955466264     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0142729     Document Type: Article

References (19)

1. Barrett AN, McDonnell TCR, Chan KCA, Chitty LS. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin Chem. 2012;58:1026-1032. doi: 10.1373/clinchem.2011. 178939 PMID: 22451622
2. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci. 2008;105:16266-16271. doi: 10.1073/pnas.0808319105 PMID: 18838674
3. Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ, De Alba MR, Gonzalez-Gonzalez C, Glover G, et al. New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma. J Cyst Fibros Off J Eur Cyst Fibros Soc. 2008;7:505-510. doi: 10.1016/j.jcf.2008.05. 006
4. Bruno F, Damin F, Causarano V, Galbiati S, Di Carlo G, Seia M, et al. High-sensitive microarray substrates specifically designed to improve sensitivity for the identification of fetal paternally inherited sequences in maternal plasma. Clin Chem Lab Med CCLM FESCC. 2009;47:818-823. doi: 10.1515/CCLM.2009.187
5. Guissart C, Debant V, Desgeorges M, Bareil C, Raynal C, Toga C, et al. Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control. Clin Chem Lab Med CCLM FESCC. 2014; doi: 10.1515/cclm-2014-0501
6. Zimmermann BG, Grill S, Holzgreve W, Zhong XY, Jackson LG, Hahn S. Digital PCR: a powerful new tool for noninvasive prenatal diagnosis? Prenat Diagn. 2008;28:1087-1093. doi: 10.1002/pd.2150 PMID: 19003785
7. Lo YD, Chiu RW. Prenatal diagnosis: progress through plasma nucleic acids. Nat Rev Genet. 2006;8:71-77. PMID: 17146468
8. Barrett AN, Chitty LS. Developing noninvasive diagnosis for single-gene disorders: the role of digital PCR. Methods Mol Biol Clifton NJ. 2014;1160:215-228. doi: 10.1007/978-1-4939-0733-5-17
9. Hahn S, Jackson LG, Zimmermann BG. Prenatal diagnosis of fetal aneuploidies: post-genomic developments. Genome Med. 2010;2:50. doi: 10.1186/gm171 PMID: 20687900
10. Papageorgiou EA, Patsalis PC. Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications. Genome Med. 2012;4:46. doi: 10.1186/gm345 PMID: 22640877
11. Xiong L, Barrett AN, Hua R, Tan TZ, Ho SSY, Chan JKY, et al. Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing. Prenat Diagn. 2014; doi: 10.1002/pd.4536
12. Pornprasert S, Prasing W. Detection of alpha (0)-thalassemia South-East Asian-type deletion by droplet digital PCR. Eur J Haematol. 2014;92:244-248. doi: 10.1111/ejh.12246 PMID: 24330258
13. Tsui NBY, Hyland CA, Gardener GJ, Danon D, Fisk NM, Millard G, et al. Noninvasive fetal RHD genotyping by microfluidics digital PCR using maternal plasma from two alloimmunized women with the variant RHD (IVS3+1G>A) allele: Prenatal RHD genotyping by digital PCR. Prenat Diagn. 2013;33:1214-1216. doi: 10.1002/pd.4230 PMID: 23999893
14. Tsui NBY, Kadir RA, Chan KCA, Chi C, Mellars G, Tuddenham EG, et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood. 2011;117:3684-3691. doi: 10.1182/blood-2010-10-310789 PMID: 21263151
15. Lun FMF, Chiu RWK, Allen Chan KC, Yeung Leung T, Kin Lau T, Dennis Lo YM. Microfluidics Digital PCR Reveals a Higher than Expected Fraction of Fetal DNA in Maternal Plasma. Clin Chem. 2008;54:1664-1672. doi: 10.1373/clinchem.2008.111385 PMID: 18703764
16. Mazaika E, Homsy J. Digital Droplet PCR: CNV Analysis and Other Applications. Curr Protoc Hum Genet Editor Board Jonathan Haines Al. 2014;82:7-24.1-7.24.13. doi: 10.1002/0471142905.hg0724s82
17. Dube S, Qin J, Ramakrishnan R. Mathematical Analysis of Copy Number Variation in a DNA Sample Using Digital PCR on a Nanofluidic Device. Wu X, editor. PLoS ONE. 2008;3:e2876. doi: 10.1371/journal.pone.0002876 PMID: 18682853
18. Beck J, Bierau S, Balzer S, Andag R, Kanzow P, Schmitz J, et al. Digital droplet PCR for rapid quantification of donor DNA in the circulation of transplant recipients as a potential universal biomarker of graft injury. Clin Chem. 2013;59:1732-1741. doi: 10.1373/clinchem.2013.210328 PMID: 24061615
19. Azuara D, Ginesta MM, Gausachs M, Rodriguez-Moranta F, Fabregat J, Busquets J, et al. Nanofluidic digital PCR for KRAS mutation detection and quantification in gastrointestinal cancer. Clin Chem. 2012;58:1332-1341. doi: 10.1373/clinchem.2012.186577 PMID: 22745110