Citogenética prenatal

EMC - Ginecología-Obstetricia - Tập 50 - Trang 1-18 - 2014
B. Benzacken1,2,3,4, C. Dupont2
1Service d’histologie-embryologie-cytogénétique-biologie de la reproduction-CECOS, Hôpital Jean-Verdier, AP–HP, avenue-du-14-Juillet, 93143 Bondy cedex, France
2UF de cytogénétique, Département de génétique, Hôpital Robert-Debré, AP–HP, 48, boulevard Serrurier, 75019 Paris, France
3Université Paris 13, Sorbonne Paris Cité, Paris, France
4Inserm, U676, Paris, France

Tài liệu tham khảo

Tijo, 1956, The chromosome number of man, Hereditas, 42, 1, 10.1111/j.1601-5223.1956.tb03010.x Lejeune, 1959, Étude des chromosomes somatiques de neuf enfants mongoliens, CR Acad Sci Paris, 248, 1721 Boue, 1976, Diagnostic prénatal des anomalies chromosomiques, Arch Fr Pediatr, 33, 653 Boue, 1979, Diagnostic prénatal : résultat de 1532 ponctions amniotiques et étude prospective de 1023 cas, Nouv Presse Med, 8, 2949 Boue, 1984, A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses, Prenat Diagn, 4, 45, 10.1002/pd.1970040705 Goossens, 1981, Antenatal diagnosis of sickle-cell anaemia by DNA analysis of amniotic fluid cells. A preliminary study in the French West-Indies, Nouv Presse Med, 10, 387 Goossens, 1983, Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy, N Engl J Med, 309, 831, 10.1056/NEJM198310063091405 Daffos, 1983, Fetal blood sampling via the umbilical cord using a needle guided by ultrasound. Report of 66 cases, Prenat Diagn, 3, 271, 10.1002/pd.1970030402 Boué, 1973, Outcome of pregnancies following a spontaneous abortion with chromosomal anomalies, Am J Obstet Gynecol, 161, 806, 10.1016/0002-9378(73)91013-2 Plachot, 1989, Chromosome analysis of spontaneous abortions after IVF. A european survey, Hum Reprod, 4, 425, 10.1093/oxfordjournals.humrep.a136921 Turleau, 2004, Types, fréquences et mécanismes de formation des anomalies chromosomiques, 71 Edwards, 1960, A new trisomic syndrome, Lancet, 1, 787, 10.1016/S0140-6736(60)90675-9 Patau, 1960, Multiple congenital anomaly caused by an extra autosome, Lancet, 1, 790, 10.1016/S0140-6736(60)90676-0 Pellestor, 1991, Frequency and distribution of aneuploidy in human female gametes, Hum Genet, 86, 283, 10.1007/BF00202410 Hassold, 1993, Trisomy in human: incidence, origin and etiology, Curr Opin Genet Dev, 3, 398, 10.1016/0959-437X(93)90111-2 Angell, 1994, First meiotic division abnormalities in human aneuploidy in human ovocytes: mechanism of trisomy formation, Cytogenet Cell Genet, 65, 10.1159/000133631 De Grouchy, 1984 Siffroi, 1997, Assisted reproductive technology and complex chromosomal rearrangements: the limits of ICSI, Mol Hum Reprod, 3, 847, 10.1093/molehr/3.10.847 De la Chapelle, 1981, A deletion in chromosome 22 can cause DiGeorge syndrome, Hum Genet, 57, 253, 10.1007/BF00278938 Shaffer LG, McGowan-Jordan J, Schmid M. In: ISCN: An International System for Human Cytogenetic Nomenclature (2013) Recommendations of the International Standing Committee on Human. Published in collaboration with Cytogenetic and Genome Research; 2013. Cacheux, 1994, Evaluation of X, Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescence in situ hybridization, Prenat Diagn, 14, 79, 10.1002/pd.1970140202 Shaffer, 2011, The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes, Prenat Diagn, 31, 778, 10.1002/pd.2766 Vialard, 2012, Prenatal BACs-on-Beads: the prospective experience of five prenatal diagnosis laboratories, Prenat Diagn, 32, 329, 10.1002/pd.2934 Dunbar, 2006, Applications of Luminex xMAP technology for rapid, high-throughput multiplexed nucleic acid detection, Clin Chim Acta, 363, 71, 10.1016/j.cccn.2005.06.023 Grati, 2013, Application of a new molecular technique for the genetic evaluation of products of conception, Prenat Diagn, 33, 32, 10.1002/pd.4004 Keren, 2008, Nouveaux outils diagnostiques du retard mental, Mt Pediatr, 11, 230 Malan, 2012, Diagnosis of chromosomal abnormalities by array CGH in constitutional pathology: the end of the first-line karyotype. Diagnostic des anomalies chromosomiques par CGH array en pathologie constitutionnelle : la fin du caryotype en première intention, Arch Pediatr, 19, 437, 10.1016/j.arcped.2012.01.004 Cooper, 2011, A copy number variation morbidity map of developmental delay, Nat Genet, 43, 838, 10.1038/ng.909 Conrad, 2010, Origins and functional impact of copy number variation in the human genome, Nature, 464, 704, 10.1038/nature08516 Breman, 2012, Prenatal chromosomal microarray analysis in a diagnostic laboratory: experience with >1000 cases and review of the literature, Prenat Diagn, 32, 351, 10.1002/pd.3861 Shaffer, 2012, Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies, Prenat Diagn, 32, 976, 10.1002/pd.3945 Wapner, 2012, Chromosomal microarray versus karyotyping for prenatal diagnosis, N Engl J Med, 367, 2175, 10.1056/NEJMoa1203382 Lo, 2007, Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection, Nat Med, 13, 218, 10.1038/nm1530 Lo, 1997, Presence of fetal DNA in maternal plasma and serum, Lancet, 350, 485, 10.1016/S0140-6736(97)02174-0 Hill, 2011, Non-invasive prenatal determination of fetal sex: translating research into clinical practice, Clin Genet, 80, 68, 10.1111/j.1399-0004.2010.01533.x Lo, 1998, Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma, N Engl J Med, 339, 1734, 10.1056/NEJM199812103392402 Tong, 2006, Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: theoretical and empirical considerations, Clin Chem, 52, 2194, 10.1373/clinchem.2006.076851 Palomaki, 2011, DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study, Genet Med, 13, 913, 10.1097/GIM.0b013e3182368a0e Palomaki, 2012, DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study, Genet Med, 14, 296, 10.1038/gim.2011.73 Chen, 2011, Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing, Plos One, 6, e21791, 10.1371/journal.pone.0021791 Lun, 2011, Noninvasive prenatal diagnosis of a case of Down syndrome due to robertsonian translocation by massively parallel sequencing of maternal plasma DNA, Clin Chem, 57, 917, 10.1373/clinchem.2011.161844 Canick, 2012, DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations, Prenat Diagn, 32, 730, 10.1002/pd.3892