{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:24:12Z","timestamp":1790627052640,"version":"4.1.0"},"reference-count":34,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,4,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_cclm-2017-0689_s_999_w2aab3b7c52b1b6b1aab1c17b1Aa\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>To limit risks of miscarriages associated with invasive procedures of current prenatal diagnosis practice, we aim to develop a personalized medicine-based protocol for non-invasive prenatal diagnosis (NIPD) of monogenic disorders relying on the detection of paternally inherited mutations in maternal blood using droplet digital PCR (ddPCR).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_cclm-2017-0689_s_998_w2aab3b7c52b1b6b1aab1c17b2Aa\">\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      This study included four couples at risk of transmitting paternal neurofibromatosis type 1 (\n                      <jats:italic>NF1<\/jats:italic>\n                      ) mutations and four couples at risk of transmitting compound heterozygous\n                      <jats:italic>CFTR<\/jats:italic>\n                      mutations. NIPD was performed between 8 and 15 weeks of gestation, in parallel to conventional invasive diagnosis. We designed specific hydrolysis probes to detect the paternal mutation and to assess the presence of cell-free fetal DNA by ddPCR. Analytical performances of each assay were determined from paternal sample, an then fetal genotype was inferred from maternal plasma sample.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_cclm-2017-0689_s_997_w2aab3b7c52b1b6b1aab1c17b3Aa\">\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Presence or absence of the paternal mutant allele was correctly determined in all the studied plasma DNA samples.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_cclm-2017-0689_s_996_w2aab3b7c52b1b6b1aab1c17b4Aa\">\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      We report an NIPD protocol suitable for implementation in an experienced laboratory of molecular genetics. Our proof-of-principle results point out a high accuracy for early detection of paternal\n                      <jats:italic>NF1<\/jats:italic>\n                      and\n                      <jats:italic>CFTR<\/jats:italic>\n                      mutations in cell-free DNA, and open new perspectives for extending the technology to NIPD of many other monogenic diseases.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/cclm-2017-0689","type":"journal-article","created":{"date-parts":[[2018,4,4]],"date-time":"2018-04-04T11:19:15Z","timestamp":1522840755000},"page":"728-738","source":"Crossref","is-referenced-by-count":36,"title":["Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of\n                    <i>NF1<\/i>\n                    and\n                    <i>CFTR<\/i>\n                    mutations using droplet digital PCR"],"prefix":"10.1515","volume":"56","author":[{"given":"Aur\u00e9lia","family":"Gruber","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, HUPC H\u00f4pital Cochin , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Pacault","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, HUPC H\u00f4pital Cochin , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laila Allach","family":"El Khattabi","sequence":"additional","affiliation":[{"name":"Service de Cytog\u00e9n\u00e9tique, HUPC H\u00f4pital Cochin , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Vaucouleur","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, HUPC H\u00f4pital Cochin , Paris , 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