{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:33:09Z","timestamp":1787063589752,"version":"build-2736575974"},"reference-count":39,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenat Diagn"],"published-print":{"date-parts":[[2016,5]]},"DOI":"10.1002\/pd.4790","type":"journal-article","created":{"date-parts":[[2016,2,6]],"date-time":"2016-02-06T03:11:51Z","timestamp":1454728311000},"page":"397-406","source":"Crossref","is-referenced-by-count":55,"title":["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"],"prefix":"10.1002","volume":"36","author":[{"given":"Lucie","family":"Orhant","sequence":"first","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire; HUPC H\u00f4pital Cochin; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"Anselem","sequence":"additional","affiliation":[{"name":"Maternit\u00e9 Cochin-Port Royal; HUPC H\u00f4pital Cochin; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lanie","family":"Fradin","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale; CHU de Rennes; Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre Hadrien","family":"Becker","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire; HUPC H\u00f4pital Cochin; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Beugnet","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire; HUPC H\u00f4pital Cochin; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Deburgrave","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire; HUPC H\u00f4pital Cochin; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles","family":"Tafuri","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire; HUPC H\u00f4pital Cochin; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Letourneur","sequence":"additional","affiliation":[{"name":"INSERM, U1016, Institut Cochin, CNRS UMR8104; Universit\u00e9 Paris Descartes; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Goffinet","sequence":"additional","affiliation":[{"name":"Maternit\u00e9 Cochin-Port Royal; HUPC H\u00f4pital Cochin; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"La\u00efla","family":"Allach El Khattabi","sequence":"additional","affiliation":[{"name":"Laboratoire de Cytog\u00e9n\u00e9tique; HUPC H\u00f4pital Cochin; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"France","family":"Leturcq","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire; HUPC H\u00f4pital Cochin; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire; HUPC H\u00f4pital Cochin; Paris France"},{"name":"INSERM, U1016, Institut Cochin, CNRS UMR8104; Universit\u00e9 Paris Descartes; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vassilis","family":"Tsatsaris","sequence":"additional","affiliation":[{"name":"Maternit\u00e9 Cochin-Port Royal; HUPC H\u00f4pital Cochin; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Nectoux","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire; HUPC H\u00f4pital Cochin; Paris France"},{"name":"INSERM, U1016, Institut Cochin, CNRS UMR8104; Universit\u00e9 Paris Descartes; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,4,7]]},"reference":[{"issue":"9582","key":"10.1002\/pd.4790-BIB0001|pd4790-cit-0001","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/S0140-6736(07)61090-3","article-title":"Achondroplasia","volume":"370","author":"Horton","year":"2007","journal-title":"Lancet"},{"key":"10.1002\/pd.4790-BIB0002|pd4790-cit-0002","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1542\/peds.2005-1440","article-title":"Health supervision for children with achondroplasia","volume":"116","author":"Trotter","year":"2005","journal-title":"Pediatrics"},{"issue":"2","key":"10.1002\/pd.4790-BIB0003|pd4790-cit-0003","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0092-8674(94)90302-6","article-title":"Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia","volume":"78","author":"Shiang","year":"1994","journal-title":"Cell"},{"issue":"3","key":"10.1002\/pd.4790-BIB0004|pd4790-cit-0004","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/ng0795-357","article-title":"A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia","volume":"10","author":"Bellus","year":"1995","journal-title":"Nat Genet"},{"key":"10.1002\/pd.4790-BIB0005|pd4790-cit-0005","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1038\/nm0996-1033","article-title":"Microsatellite alterations in plasma DNA of small cell lung cancer patients","volume":"2","author":"Chen","year":"1996","journal-title":"Nat Med"},{"key":"10.1002\/pd.4790-BIB0006|pd4790-cit-0006","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/S0140-6736(97)02174-0","article-title":"Presence of fetal DNA in maternal plasma and serum","volume":"350","author":"Lo","year":"1997","journal-title":"Lancet"},{"key":"10.1002\/pd.4790-BIB0007|pd4790-cit-0007","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1373\/clinchem.2008.111385","article-title":"Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma","volume":"54","author":"Lun","year":"2008","journal-title":"Clin Chem"},{"issue":"12","key":"10.1002\/pd.4790-BIB0008|pd4790-cit-0008","doi-asserted-by":"crossref","first-page":"2211","DOI":"10.1373\/clinchem.2006.074997","article-title":"Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis","volume":"52","author":"Chan","year":"2006","journal-title":"Clin Chem"},{"issue":"7447","key":"10.1002\/pd.4790-BIB0009|pd4790-cit-0009","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/nature12065","article-title":"Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA","volume":"497","author":"Murtaza","year":"2013","journal-title":"Nature"},{"issue":"3","key":"10.1002\/pd.4790-BIB0010|pd4790-cit-0010","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1038\/nrclinonc.2013.253","article-title":"Molecular analysis of circulating tumour cells-biology and biomarkers","volume":"11","author":"Krebs","year":"2014","journal-title":"Nat Rev Clin Oncol"},{"issue":"5-6","key":"10.1002\/pd.4790-BIB0011|pd4790-cit-0011","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/j.cca.2010.11.036","article-title":"The value of serial plasma nuclear and mitochondrial DNA levels in patients with acute ischemic stroke","volume":"412","author":"Tsai","year":"2011","journal-title":"Clin Chim Acta"},{"issue":"3","key":"10.1002\/pd.4790-BIB0012|pd4790-cit-0012","doi-asserted-by":"crossref","first-page":"305","DOI":"10.5935\/0103-507X.20140043","article-title":"Prognostic value of circulating DNA levels in critically ill and trauma patients","volume":"26","author":"Rodrigues Filho","year":"2014","journal-title":"Rev Bras Ter Intensiva"},{"issue":"1","key":"10.1002\/pd.4790-BIB0013|pd4790-cit-0013","doi-asserted-by":"crossref","first-page":"72","DOI":"10.3892\/ijmm.2014.1991","article-title":"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","volume":"35","author":"Lou","year":"2015","journal-title":"Int J Mol Med"},{"key":"10.1002\/pd.4790-BIB0014|pd4790-cit-0014","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/S1568-9972(02)00101-5","article-title":"Dosage and characterization of circulating DNA: present usage and possible applications in systemic autoimmune disorders","volume":"2","author":"Galeazzi","year":"2003","journal-title":"Autoimmun Rev"},{"key":"10.1002\/pd.4790-BIB0015|pd4790-cit-0015","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1067\/mob.2001.109594","article-title":"Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrations in the plasma of pregnant women with preeclampsia","volume":"184","author":"Zhong","year":"2001","journal-title":"Am J Obstet Gynecol"},{"key":"10.1002\/pd.4790-BIB0016|pd4790-cit-0016","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1093\/humrep\/deg320","article-title":"Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique","volume":"18","author":"Guibert","year":"2003","journal-title":"Hum Reprod"},{"key":"10.1002\/pd.4790-BIB0017|pd4790-cit-0017","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1186\/1756-0500-5-476","article-title":"Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis","volume":"5","author":"Wright","year":"2012","journal-title":"BMC Res Notes"},{"issue":"1","key":"10.1002\/pd.4790-BIB0018|pd4790-cit-0018","doi-asserted-by":"crossref","first-page":"23","DOI":"10.2165\/00066982-200408010-00004","article-title":"Large-scale pre-diagnosis study of fetal RHD genotyping by PCR on plasma DNA from RhD-negative pregnant women","volume":"8","author":"Rouillac-Le Sciellour","year":"2004","journal-title":"Mol Diagn"},{"key":"10.1002\/pd.4790-BIB0019|pd4790-cit-0019","doi-asserted-by":"crossref","first-page":"e21791","DOI":"10.1371\/journal.pone.0021791","article-title":"Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing","volume":"6","author":"Chen","year":"2011","journal-title":"PLoS One"},{"issue":"3","key":"10.1002\/pd.4790-BIB0020|pd4790-cit-0020","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.ajog.2010.12.060","article-title":"Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting","volume":"204","author":"Ehrich","year":"2011","journal-title":"Am J Obstet Gynecol"},{"key":"10.1002\/pd.4790-BIB0021|pd4790-cit-0021","doi-asserted-by":"crossref","DOI":"10.1097\/GIM.0b013e3182368a0e","article-title":"DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study","volume":"13","author":"Palomaki","year":"2011","journal-title":"Genet Med"},{"key":"10.1002\/pd.4790-BIB0022|pd4790-cit-0022","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1097\/AOG.0b013e31824fb482","article-title":"Genomewide fetal aneuploidy detection by maternal plasma DNA sequencing","volume":"119","author":"Bianchi","year":"2012","journal-title":"Obstet Gynecol"},{"key":"10.1002\/pd.4790-BIB0023|pd4790-cit-0023","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajog.2012.05.021","article-title":"Non-invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18","volume":"207","author":"Norton","year":"2012","journal-title":"Am J Obstet Gynecol"},{"key":"10.1002\/pd.4790-BIB0024|pd4790-cit-0024","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/pd.570","article-title":"Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR","volume":"23","author":"Gonzalez-Gonzalez","year":"2003","journal-title":"Prenat Diagn"},{"key":"10.1002\/pd.4790-BIB0025|pd4790-cit-0025","doi-asserted-by":"crossref","first-page":"1338","DOI":"10.1111\/j.1468-1331.2008.02312.x","article-title":"Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study","volume":"15","author":"Bustamante-Aragones","year":"2008","journal-title":"Eur J Neurol"},{"key":"10.1002\/pd.4790-BIB0026|pd4790-cit-0026","doi-asserted-by":"crossref","first-page":"19920","DOI":"10.1073\/pnas.0810373105","article-title":"Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma","volume":"105","author":"Lun","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/pd.4790-BIB0027|pd4790-cit-0027","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1373\/clinchem.2011.178939","article-title":"Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia","volume":"58","author":"Barrett","year":"2012","journal-title":"Clin Chem"},{"key":"10.1002\/pd.4790-BIB0028|pd4790-cit-0028","doi-asserted-by":"crossref","first-page":"3684","DOI":"10.1182\/blood-2010-10-310789","article-title":"Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA","volume":"117","author":"Tsui","year":"2011","journal-title":"Blood"},{"key":"10.1002\/pd.4790-BIB0029|pd4790-cit-0029","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1373\/clinchem.2012.189589","article-title":"Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia","volume":"58","author":"Lam","year":"2012","journal-title":"Clin Chem"},{"issue":"7","key":"10.1002\/pd.4790-BIB0030|pd4790-cit-0030","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1002\/pd.4583","article-title":"Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate, and comprehensive approach","volume":"35","author":"Chitty","year":"2015","journal-title":"Prenat Diagn"},{"issue":"32","key":"10.1002\/pd.4790-BIB0031|pd4790-cit-0031","doi-asserted-by":"crossref","first-page":"13116","DOI":"10.1073\/pnas.0705765104","article-title":"Digital PCR for the molecular detection of fetal chromosomal aneuploidy","volume":"104","author":"Lo","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"19","key":"10.1002\/pd.4790-BIB0032|pd4790-cit-0032","doi-asserted-by":"crossref","first-page":"7576","DOI":"10.1021\/ac0709394","article-title":"Detection of aneuploidy with digital polymerase chain reaction","volume":"79","author":"Fan","year":"2007","journal-title":"Anal Chem"},{"issue":"4","key":"10.1002\/pd.4790-BIB0033|pd4790-cit-0033","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1159\/000337544","article-title":"Digital PCR for noninvasive detection of aneuploidy: power analysis equations for feasibility","volume":"31","author":"Evans","year":"2012","journal-title":"Fetal Diagn Ther"},{"key":"10.1002\/pd.4790-BIB0034|pd4790-cit-0034","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1016\/S0140-6736(00)02767-7","article-title":"Prenatal DNA diagnosis of a single gene disorder from maternal plasma","volume":"356","author":"Saito","year":"2000","journal-title":"Lancet"},{"key":"10.1002\/pd.4790-BIB0035|pd4790-cit-0035","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1002\/pd.1030","article-title":"Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma - case report","volume":"24","author":"Li","year":"2004","journal-title":"Prenat Diagn"},{"key":"10.1002\/pd.4790-BIB0036|pd4790-cit-0036","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/pd.1608","article-title":"Non-invasive prenatal detection of achondroplasia in size-fractionated cell free DNA by MALDI-TOF MS assay","volume":"27","author":"Li","year":"2007","journal-title":"Prenat Diagn"},{"key":"10.1002\/pd.4790-BIB0037|pd4790-cit-0037","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/s10815-010-9489-1","article-title":"Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma","volume":"28","author":"Lim","year":"2010","journal-title":"J Assist Reprod Genet"},{"key":"10.1002\/pd.4790-BIB0038|pd4790-cit-0038","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/uog.8893","article-title":"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","volume":"37","author":"Chitty","year":"2011","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"5","key":"10.1002\/pd.4790-BIB0039|pd4790-cit-0039","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/pd.4066","article-title":"Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA","volume":"33","author":"Chitty","year":"2013","journal-title":"Prenat Diagn"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4790","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/pd.4790","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,4]],"date-time":"2019-09-04T05:56:03Z","timestamp":1567576563000},"score":1,"resource":{"primary":{"URL":"http:\/\/doi.wiley.com\/10.1002\/pd.4790"}},"subtitle":["Non-invasive prenatal diagnosis of achondroplasia by ddPCR and minisequencing"],"short-title":[],"issued":{"date-parts":[[2016,4,7]]},"references-count":39,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,5]]}},"URL":"https:\/\/doi.org\/10.1002\/pd.4790","archive":["Portico"],"relation":{},"ISSN":["0197-3851"],"issn-type":[{"value":"0197-3851","type":"print"}],"subject":[],"published":{"date-parts":[[2016,4,7]]}}}