{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T21:42:01Z","timestamp":1791409321868,"version":"4.3.3"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1996,2,1]],"date-time":"1996-02-01T00:00:00Z","timestamp":823132800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1996,2]]},"DOI":"10.1007\/bf02265257","type":"journal-article","created":{"date-parts":[[2005,12,9]],"date-time":"2005-12-09T01:06:11Z","timestamp":1134090371000},"page":"150-155","source":"Crossref","is-referenced-by-count":39,"title":["Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells"],"prefix":"10.1007","volume":"97","author":[{"given":"A.","family":"Massari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Colosimo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Sangiuolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Palka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Calabrese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Camurri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Ghirardini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Milani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Giorlandino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Gazzanelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Malatesta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Romanini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BF02265257_CR1","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1038\/ng0892-316","volume":"1","author":"M Adinolfi","year":"1992","unstructured":"Adinolfi M (1992) Breaking the blood barrier. Nature Genet 1:316\u2013318","journal-title":"Nature Genet"},{"key":"BF02265257_CR2","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/0140-6736(93)92816-C","volume":"342","author":"M Adinolfi","year":"1993","unstructured":"Adinolfi M, Davies A, Sharif S, Soothill P, Rodeck C (1993) Detection of trisomy 18 and Y-derived sequences in fetal nucleated cells obtained by transcervical flushing. Lancet 342:403\u2013404","journal-title":"Lancet"},{"key":"BF02265257_CR3","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1002\/pd.1970140317","volume":"14","author":"M Adinolfi","year":"1994","unstructured":"Adinolfi M, Soothill P, Rodeck C (1994) A simple alternative to amniocentesis? Prenat Diagn 14:231:233","journal-title":"Prenat Diagn"},{"key":"BF02265257_CR4","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/pd.1970150108","volume":"15","author":"M Adinolfi","year":"1995","unstructured":"Adinolfi M, Sherlock J, Soothill P, Rodeck C (1995) Molecular evidence of fetal-derived chromosome 21 markers (STRs) in transcervical samples. Prenat Diagn 15:35\u201339","journal-title":"Prenat Diagn"},{"key":"BF02265257_CR5","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/0888-7543(91)90374-N","volume":"9","author":"A Baldini","year":"1991","unstructured":"Baldini A, Ward DC (1991) In situ hybridization banding of human chromosomes with Alu-PCR products: a simultaneous karyotype for gene mapping studies. Genomics 9:770\u2013774","journal-title":"Genomics"},{"key":"BF02265257_CR6","doi-asserted-by":"crossref","unstructured":"Bernini LF, Kanhai HHH, Losekoot M, Giordano P, Harteveld CL (1994) Prenatal diagnosis of homozygous \u03b1\u00b0-thalassemia by an immunological method. In. Simpson JL, Elias S (eds) Fetal cells in maternal blood. Ann N Y Acad Sci 731, pp 193\u2013196","DOI":"10.1111\/j.1749-6632.1994.tb55769.x"},{"key":"BF02265257_CR7","doi-asserted-by":"crossref","first-page":"1983","DOI":"10.1093\/oxfordjournals.humrep.a137970","volume":"8","author":"B Brambati","year":"1993","unstructured":"Brambati B (1993) Genetic disorders: methods of avoiding the birth of an affected child. Hum Reprod 8:1983\u20132000","journal-title":"Hum Reprod"},{"key":"BF02265257_CR8","unstructured":"Chaouat G, Lochu P, Ville Y, Rhali H, Bedossa P, Selva J, Bergere M, D'Auriol L, Bellet D, Vidault M, Frydman R (1994) Transcervical sampling: a preliminary prospective study. In: Simpson JL, Elias S (eds) Fetal cells in maternal blood. Ann N Y Acad Sci 731, pp 197\u2013200 Crotty PL, Staggs RA, Porter PT, Killeen AA, McGlennen RC (1994) Quantitative analysis in molecular diagnostics. Hum Pathol 25 : 572\u2013579"},{"key":"BF02265257_CR9","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0140-6736(94)90815-X","volume":"343","author":"K Cui","year":"1994","unstructured":"Cui K, Warnes GM, Jeffrey R, Matthews CD (1994) Sex determination of preimplantation embryos by human testis-determining-gene amplification. Lancet 343:79\u201382","journal-title":"Lancet"},{"key":"BF02265257_CR10","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1126\/science.8351519","volume":"261","author":"H Deng","year":"1993","unstructured":"Deng H, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung W, Getzoff ED, Hu P, Herzfeldt B, Roos RP, Warner C, Deng G, Soriano E, Smyth C, Parge HE, Ahmed A, Roses AD, Hallewell RA, Pericak-Vance MA, Siddique T (1993) Amyotrophic lateral sclerosis and structural defects in Cu Zn superoxide dismutase. Science 261:1047\u20131051","journal-title":"Science"},{"key":"BF02265257_CR11","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1056\/NEJM199309163291201","volume":"329","author":"BG Ewigman","year":"1993","unstructured":"Ewigman BG, Crane JP, Frigoletto FD, LeFevre ML, Bain RP, McNellis D, RADIUS study group (1993) Effect of prenatal ultrasound screening on perinatal outcome. N Engl J Med 329:821\u2013827","journal-title":"N Engl J Med"},{"key":"BF02265257_CR12","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1016\/S0140-6736(94)90182-1","volume":"343","author":"HV Firth","year":"1994","unstructured":"Firth HV, Boyd PA, Chamberlain PF, MacKenzie IZ, Morriss-Kay GM, Huson SM (1994) Analysis of limb reduction defects in babies exposed to chorionic villus sampling. Lancet 343:1069\u20131071","journal-title":"Lancet"},{"key":"BF02265257_CR13","first-page":"1A","volume":"55","author":"UG Froster","year":"1994","unstructured":"Froster UG, Jackson L (1994) Safety of chorionic villus sampling: results from an international registry. Am J Hum Genet 55 (suppl): 1A","journal-title":"Am J Hum Genet"},{"key":"BF02265257_CR14","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1016\/0140-6736(93)92036-S","volume":"342","author":"MR Gaudoin","year":"1993","unstructured":"Gaudoin MR (1993) Transcervical flushing and antenatal diagnosis. Lancet 342:989\u2013990","journal-title":"Lancet"},{"key":"BF02265257_CR15","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1111\/j.1471-0528.1992.tb13792.x","volume":"99","author":"MD Griffith-Jones","year":"1992","unstructured":"Griffith-Jones MD, Miller D, Lilford RJ, Scott J, Bulmer J (1992) Detection of fetal DNA in trans-cervical swabs from first trimester pregnancies by gene amplification: a new route to prenatal diagnosis? Br J Obstet Gynaecol 99:508\u2013511","journal-title":"Br J Obstet Gynaecol"},{"key":"BF02265257_CR16","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/tera.1420480104","volume":"48","author":"LB Homes","year":"1993","unstructured":"Homes LB (1993) Report of National Institute of Child Health and human development workshop on chorionic villus sampling and limb and other defects, 20 October, 1992. Teratology 48:7\u201313","journal-title":"Teratology"},{"key":"BF02265257_CR17","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1002\/pd.1970151011","volume":"15","author":"D Ishai","year":"1995","unstructured":"Ishai D, Amiel A, Diukman R, Cogan O, Lichtenstein Z, Abramovici H, Fejgin MD (1995) Uterine cavity lavage: adding fish to conventional cytogenetics for embryonic sexing and diagnosing common chromosomal aberrations. Prenat Diagn 15:961\u2013966","journal-title":"Prenat Diagn"},{"key":"BF02265257_CR18","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/pd.1970140608","volume":"14","author":"S Cicero Lo","year":"1994","unstructured":"Lo Cicero S, Capon F, Melchionda S, Gennarelli M, Novelli G, Dallapiccola B (1994) First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers. Prenat Diagn 14:459\u2013462","journal-title":"Prenat Diagn"},{"key":"BF02265257_CR19","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1093\/hmg\/2.1.43","volume":"2","author":"ES Mansfield","year":"1993","unstructured":"Mansfield ES (1993) Diagnosis of Down syndrome and other aneupolidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 2:43\u201350","journal-title":"Hum Mol Genet"},{"key":"BF02265257_CR20","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1111\/j.1471-0528.1992.tb13777.x","volume":"99","author":"N Morris","year":"1992","unstructured":"Morris N, Williamson R (1992) Non-invasive first trimester antenatal diagnosis. Br J Obstet Gynaecol 99:446\u2013448","journal-title":"Br J Obstet Gynaecol"},{"key":"BF02265257_CR21","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/pd.1970130106","volume":"13","author":"F Muller","year":"1993","unstructured":"Muller F, Aegerter P, Bou\u00e9 A (1993) Prospective maternal serum human chorionic gonadotropin screening for the risk of fetal chromosome anomalies and of subsequent fetal and neonatal deaths. Prenat Diagn 13:29\u201343","journal-title":"Prenat Diagn"},{"key":"BF02265257_CR22","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1006\/bmmb.1993.1049","volume":"50","author":"G Novelli","year":"1993","unstructured":"Novelli G, Gennarelli M, Menegazzo E, Mostacciuolo ML, Pizzuti A, Fattorini C, Tessarolo D, Tomelleri G, Giacanelli M, Danieli GA, Rizzuto N, Caskey CT, Angelini C, Dallapiccola B (1993) (CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients. Biochem Med Metab Biol 50:85\u201392","journal-title":"Biochem Med Metab Biol"},{"key":"BF02265257_CR23","doi-asserted-by":"crossref","unstructured":"Pertl B, Davies A, Soothill P, Rodeck C, Adinolfi M (994a) Detection of fetal cells in endocervical samples. In Simpson JL, Elias S (eds) Fetal cells in matemal blood. Ann N Y Acad Sci 731, pp 186\u2013192","DOI":"10.1111\/j.1749-6632.1994.tb55768.x"},{"key":"BF02265257_CR24","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1016\/S0140-6736(94)92404-X","volume":"343","author":"B Pertl","year":"1994","unstructured":"Pertl B, Yau SC, Sherlock J, Davies AF, Mathew CG, Adinolfi M (1994b) Rapid molecular method for prenatal detection of Down's syndrome. Lancet 343:1197\u20131198","journal-title":"Lancet"},{"key":"BF02265257_CR25","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/230052b0","volume":"230","author":"LB Shettles","year":"1971","unstructured":"Shettles LB (1971) Use of the Y chromosome in prenatal sex determination. Nature 230:52","journal-title":"Nature"},{"key":"BF02265257_CR26","doi-asserted-by":"crossref","first-page":"2357","DOI":"10.1001\/jama.1993.03510190113036","volume":"270","author":"JL Simpson","year":"1993","unstructured":"Simpson JL, Elias S (1993) Isolating fetal cells from maternal blood. J Am Med Assoc 270:2357\u20132361","journal-title":"J Am Med Assoc"},{"key":"BF02265257_CR27","doi-asserted-by":"crossref","unstructured":"Simpson JL, Elias S (1994) Fetal cells in maternal blood: overview and historical perspective. In: Simpson JL, Elias S (eds) Fetal cells in maternal blood. Ann N Y Acad Sci 731, pp 1\u20138","DOI":"10.1111\/j.1749-6632.1994.tb55743.x"},{"key":"BF02265257_CR28","first-page":"81 A","volume":"25","author":"R Warren","year":"1972","unstructured":"Warren R, Sanchez L, Hammond D, McLeod A (1972) Prenatal sex determination from exfoliated cells found in cervical mucosa. Am J Hum Genet 25:81 A","journal-title":"Am J Hum Genet"},{"key":"BF02265257_CR29","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1136\/jmg.30.12.1051","volume":"30","author":"Y Zheng","year":"1993","unstructured":"Zheng Y, Carter NP, Price CM, Colman SM, Milton PJ, Hackett GA, Greaves MF, Ferguson-Smith MA (1993) Prenatal diagnosis from maternal blood: simultaneous immunophenotyping and FISH of fetal nucleated erythrocytes isolated by negative magnetic cell sorting. J Med Genet 30:1051\u20131056","journal-title":"J Med Genet"},{"key":"BF02265257_CR30","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/0888-7543(91)90503-7","volume":"10","author":"J Zielenski","year":"1991","unstructured":"Zielenski J, Rozmahel R, Bozon D, Kerem BS, Grzelczak Z, Riordan JR, Rommens J, Tsui LC (1991) Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:214\u2013228","journal-title":"Genomics"},{"key":"BF02265257_CR31","doi-asserted-by":"crossref","unstructured":"Zimmerman R, Huch A, Kratzer A, Bar W (1994) First-trimester sex determination from fetal DNA in cervical swabs. In: Simpson JL, Elias S (eds) Fetal cells in maternal blood. Ann NY Acad Sci 731, pp 201\u2013203","DOI":"10.1111\/j.1749-6632.1994.tb55771.x"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02265257.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF02265257\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02265257","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,11]],"date-time":"2020-04-11T12:42:17Z","timestamp":1586608937000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF02265257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,2]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1996,2]]}},"alternative-id":["BF02265257"],"URL":"https:\/\/doi.org\/10.1007\/bf02265257","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,2]]}}}