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

Prenatal Diagnosis

Volumn 36, Issue 5, 2016, Pages 397-406

  Orhant, Lucie ^a   Anselem, Olivia ^a   Fradin, Mélanie ^b   Becker, Pierre Hadrien ^a   Beugnet, Caroline ^a   Deburgrave, Nathalie ^a   Tafuri, Gilles ^a   Letourneur, Franck ^c   Goffinet, François ^a   Allach El Khattabi, Laïla ^a   Leturcq, France ^a   Bienvenu, Thierry ^a,c   Tsatsaris, Vassilis ^a   Nectoux, Juliette ^a,c  

^a HUPC Hôpital Cochin ^*  (France)

^b RENNES UNIVERSITY HOSPITAL   (France)

^c INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FETAL DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 3; UNCLASSIFIED DRUG; FGFR3 PROTEIN, HUMAN;

ACHONDROPLASIA; ALLELE; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DNA SEQUENCE; DROPLET DIGITAL POLYMERASE CHAIN REACTION; FETUS; GENOTYPE; HUMAN; LEUKOCYTE; MATERNAL BLOOD; MATERNAL PLASMA; MINISEQUENCING; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; ALGORITHM; BLOOD; CASE CONTROL STUDY; FEMALE; GENETICS; MATERNAL SERUM SCREENING TEST; PREGNANCY;

ACHONDROPLASIA; ALGORITHMS; CASE-CONTROL STUDIES; DNA; FEMALE; HUMANS; MATERNAL SERUM SCREENING TESTS; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 84963706365     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4790     Document Type: Article

References (39)

1. Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet 2007;370(9582):162-72.
2. Trotter TL, Hall JG, American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics 2005;116:771-83.
3. Shiang R, Thompson LM, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994;78(2):335-42.
4. Bellus GA, McIntosh I, Smith EA, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 1995;10(3):357-9.
5. Chen XQ, Stroun M, Magnenat JL, et al. Microsatellite alterations in plasma DNA of small cell lung cancer patients. Nat Med 1996;2:1033-35.
6. Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485-7.
7. Lun FMF, Chiu RWK, Chan KCA, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008;54:1664-72.
8. Chan KC, Ding C, Gerovassili A, et al. Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin Chem 2006;52(12):2211-8.
9. Murtaza M, Dawson SJ, Tsui DW, et al. Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature 2013;497(7447):108-12.
10. Krebs MG, Metcalf RL, Carter L, et al. Molecular analysis of circulating tumour cells-biology and biomarkers. Nat Rev Clin Oncol 2014;11(3):129-44.
11. Tsai NW, Lin TK, Chen SD, et al. The value of serial plasma nuclear and mitochondrial DNA levels in patients with acute ischemic stroke. Clin Chim Acta 2011;412(5-6):476-9.
12. Rodrigues Filho EM, Ikuta N, Simon D, et al. Prognostic value of circulating DNA levels in critically ill and trauma patients. Rev Bras Ter Intensiva 2014;26(3):305-12.
13. Lou X, Hou Y, Liang D, et al. A novel Alu-based real-time PCR method for the quantitative detection of plasma circulating cell-free DNA: sensitivity and specificity for the diagnosis of myocardial infarction. Int J Mol Med 2015;35(1):72-80.
14. Galeazzi M, Morozzi G, Piccini M, et al. Dosage and characterization of circulating DNA: present usage and possible applications in systemic autoimmune disorders. Autoimmun Rev 2003;2:50-5.
15. Zhong XY, Laivuori H, Livingston JC, et al. Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrations in the plasma of pregnant women with preeclampsia. Am J Obstet Gynecol 2001;184:414-9.
16. Guibert J, Benachi A, Grebille AG, et al. Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique. Hum Reprod 2003;18:1733-6.
17. Wright CF, Wei Y, Higgins JPT, et al. Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis. BMC Res Notes 2012;5:476-87.
18. Rouillac-Le Sciellour C, Puillandre P, Gillot R, et al. Large-scale pre-diagnosis study of fetal RHD genotyping by PCR on plasma DNA from RhD-negative pregnant women. Mol Diagn 2004;8(1):23-31.
19. Chen EZ, Chiu RW, Sun H, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011;6:e21791.
20. Ehrich M, Deciu C, Zwiefelhofer T, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011;204(3):205-e1.
21. Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13:913-20.011;204 [205 e201-211].
22. Bianchi DW, Platt LD, Goldberg JD, et al. Genomewide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:890-901.
23. Norton ME, Brar H, Weiss J, et al. Non-invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;207[137 e131-138]:.
24. Gonzalez-Gonzalez MC, Trujillo MJ, deAlba MR, et al. Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. Prenat Diagn 2003;23:232-4.
25. Bustamante-Aragones A, Trujillo-Tiebas MJ, Gallego-Merlo J, et al. Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study. Eur J Neurol 2008;15:1338-44.
26. Lun FM, Tsui NB, Chan KC, et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci U S A 2008;105:19920-5.
27. Barrett AN, McDonnell TC, Chan KC, et al. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin Chem 2012;58:1026-32.
28. Tsui NB, Kadir RA, Chan KC, et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 2011;117:3684-91.
29. Lam KWG, Jiang P, Liao GJW, et al. Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia. Clin Chem 2012;58:1467-75.
30. Chitty LS, Mason S, Barrett AN, et al. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate, and comprehensive approach. Prenat Diagn 2015;35(7):656-62, DOI: 10.1002/pd.4583.
31. Lo YM, Lun FM, Chan KC, et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci U S A 2007;104(32):13116-21.
32. Fan HC, Quake SR. Detection of aneuploidy with digital polymerase chain reaction. Anal Chem 2007;79(19):7576-9.
33. Evans MI, Wright DA, Pergament E, et al. Digital PCR for noninvasive detection of aneuploidy: power analysis equations for feasibility. Fetal Diagn Ther 2012;31(4):244-7.
34. Saito H, Sekizawa A, Morimoto T, et al. Prenatal DNA diagnosis of a single gene disorder from maternal plasma. Lancet 2000;356:1170.
35. Li Y, Holzgreve W, Page-Christiaens GC, et al. Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma - case report. Prenat Diagn 2004;24:896-8.
36. Li Y, Page-Christiaens GC, Gille JJ, et al. Non-invasive prenatal detection of achondroplasia in size-fractionated cell free DNA by MALDI-TOF MS assay. Prenat Diagn 2007;27:11-17.
37. Lim JH, Kim MJ, Kim SY, et al. Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma. J Assist Reprod Genet 2010;28:167-72.
38. Chitty LS, Griffin DR, Meaney C, et al. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet Gynecol 2011;37:283-9.
39. Chitty LS, Khalil A, Barrett AN, et al. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn 2013;33(5):416-23.