Mosaicos cromosómicos en vellosidad corial

Diagnóstico Prenatal - Tập 24 - Trang 99-107 - 2013
Esther Cuatrecasas1, Elisenda Masip1, Teresa Escabias1, Vicenç Català1, Agustí Serés-Santamaría1, Francesca Vidal2, Anna Soler3
1Prenatal Genetics S.L., Barcelona, España
2Departament de Biologia Cellular, Immunologia i Fisiologia, Universitat Autònoma de Barcelona, Barcelona, España
3Departament de Genètica, Hospital Clínic Universitari de Barcelona, Barcelona, España

Tài liệu tham khảo

2009 Phillips, 2006, Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling, Am J Obstet Gynecol, 174, 850, 10.1016/S0002-9378(96)70312-5 Hahnemann, 1997, Accuracy of cytogenetic findings on chorionic villus samplig (CVS)-diagnostic consequences of CVS mosaicism and non-mosaic discepancy in centres contributing to EUCROMIC 1986-1992, Prenat Diagn, 17, 801, 10.1002/(SICI)1097-0223(199709)17:9<801::AID-PD153>3.0.CO;2-E Riegel, 2006, Postzygotic isochromosome formation as a cause of false negative results from chorionic villus chromosome examination, Prenat Diagn, 26, 221, 10.1002/pd.1383 Rodríguez-Revenga, 2005, 46,XY,18q+/46,XY,18q- mosaicism in a fragile X prenatal diagnosis, Prenat Diagn, 25, 448, 10.1002/pd.1150 Farra, 2000, Fetoplacental chromosomal discrepancy, Prenat Diagn, 20, 190, 10.1002/(SICI)1097-0223(200003)20:3<190::AID-PD777>3.0.CO;2-A Plaja, 2006, Interpretación y expresión clínica de mosaicos cromosómicos, Prog Diagn Trat Prenat, 18, 122 Morales, 2010, Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues, Eur J Med Genet, 53, 197, 10.1016/j.ejmg.2010.03.007 Kalousek, 1983, Chromosomal mosaicism confined to the placenta in human conceptions, Science, 221, 665, 10.1126/science.6867735 Grati, 2006, Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi, E J Hum Genet, 14, 282, 10.1038/sj.ejhg.5201564 2012, Cytogenetic guidelines and auality assurance, ECA Newsletter, 29, 7 Wolstenholme, 1996, Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16 and 22: their incidence, likely origins, and mechanisms for cell lineage compartimentalization, Prenat Diagn, 16, 511, 10.1002/(SICI)1097-0223(199606)16:6<511::AID-PD904>3.0.CO;2-8 Los, 1998, Uniparental disomy with and without confined. Placental mosaicism: A model for trisomic zygote rescue, Prenat Diagn, 18, 659, 10.1002/(SICI)1097-0223(199807)18:7<659::AID-PD317>3.0.CO;2-K Soler, 2008, A retrospective and theoretical evaluation of rapid methods for detecting chromosome abnormalities and their implications on genetic counseling based on a series of 3868 CVS diagnoses, Fetal Diagn Ther, 23, 118, 10.1159/000111592 Robinson, 1995, Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection, Am J Hum Genet, 56, 444 Cox A.E. Chromosomal mosaicism and uniparental disomy in prenatal diagnosis: clinical implications for genetic counselling. Master of Science. University of Pittsburgh. 2004 Toutain, 2010, Confined placental mosaicism and pregnancy outcome: a distinction needs to be between type 2 and type 3, Prenat Diagn, 30, 1155, 10.1002/pd.2631 Kalousek, 1992, Spontaneous abortion and confined chromosomal mosaicism, Hum Genet, 88, 642, 10.1007/BF02265289 Wapner, 1992, Chorionic mosaicism: Association with fetal loss but not with adverse perinatal outcome, Prenat Diagn, 12, 347, 10.1002/pd.1970120504 Roland, 1994, Confined placental mosaicism in CVS and pregnancy outcome, Prenat Diagn, 14, 589, 10.1002/pd.1970140713 Phillips, 1996, Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling, Am J Obstet Gynecol, 174, 850, 10.1016/S0002-9378(96)70312-5 Lestou, 1998, Confined placental mosaicism and intrauterine fetal growth, Arch Dis Child Fetal Neonata, 79, 223, 10.1136/fn.79.3.F223 Stipolgev, 2001, Correlation of confined placental mosaicism with fetal intrauterine growth retardation, Fetal Diagn Ther, 16, 4, 10.1159/000053871 Wilkins-Haug, 2006, Confined placental mosaicism as a risk factor among newborns with fetal growth restriction, Prenat Diagn, 26, 428, 10.1002/pd.1430 Robinson, 2010, Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction, Prenat Diagn, 30, 1, 10.1002/pd.2409 Leschot, 1996, The outcome of pregnancies with confined placental chromosome mosaicism in cytotrophoblast cells, Prenat Diagn, 16, 705, 10.1002/(SICI)1097-0223(199608)16:8<705::AID-PD930>3.0.CO;2-6 Yong, 2009, Placental weight in pregnancies with trisomy confined to the placenta, J Obstet Gynaecol Can, 31, 605, 10.1016/S1701-2163(16)34239-6 Amor, 2006, Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism, Prenat Diagn, 26, 443, 10.1002/pd.1433 Miura, 2006, Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause, Am J Med Genet, A140A, 1827, 10.1002/ajmg.a.31389 Tharapel, 1989, Reabsorbed cotwin as an explanation for discrepant chorionic villus results: Non-mosaic 47,XX,+16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood, Prenat Diagn, 9, 467, 10.1002/pd.1970090703 Lejeune, 1979, Translocation sauteuse (5q;15q), (8q;15q), (12q;15q), Ann Genet, 22, 210 Levy, 2000, Jumping translocation in spontaneous abortions, Cytogenet Cell Genet, 88, 25, 10.1159/000015478 Annable, 2008, Prenatal diagnosis of a jumping translocation, Prenat Diagn, 28, 767, 10.1002/pd.2038 Edwards, 2008, J. Prenatal diagnosis of monosomy 18p involving a jumping translocation, Prenat Diagn, 28, 764, 10.1002/pd.2030 Reddy, 1991, The vanishing twin: An explanation for discordance between chorionic villus karyotype and fetal phenotype, Prenat Diagn, 11, 679, 10.1002/pd.1970110903 Ledbetter, 1992, Cytogenetic results from the U.S. collaborative study on CVS, Prenat Diagn, 12, 317, 10.1002/pd.1970120503 Los, 2001, The diagnostic performance of cytogenetic investigation in amniotic fluid cells and chorionic villi, Prenat Diagn, 21, 1150, 10.1002/pd.194 Simoni, 1983, Efficient direct chromosome analyses and enzyme deteminations from chorionic villi samples in the first trimester of pregnancy, Hum Genet, 63, 349, 10.1007/BF00274761 Noomen, 2001, Prevalence of tetraploid metaphases in semidirect and cutured chorionic villi, Fetal Diagn Ther, 16, 129, 10.1159/000053896 Hsu, 1999, Revised guidelines for the diagnosis of mosaicism in amniocytes, Prenat Diagn, 19, 1081, 10.1002/(SICI)1097-0223(199911)19:11<1081::AID-PD682>3.0.CO;2-Z Sikkema-Raddatz, 2000, Four years’ cytogenetic experience with the culture of chorionic villi, Prenat Diagn, 20, 950, 10.1002/1097-0223(200012)20:12<950::AID-PD959>3.0.CO;2-V Teshima, 1992, Chromosome mosaicism in CVS and amniocentesis samples, Prenat Diagn, 12, 443, 10.1002/pd.1970120514 Míguez L. Estudio citogenético en vellosidades coriales. Tesi doctoral. Universitat Autónoma de Barcelona. 1996 Van den Berg, 2000, Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi, Prenat Diagn, 20, 956, 10.1002/1097-0223(200012)20:12<956::AID-PD956>3.0.CO;2-Y Tze Kin, 2005, Outcome of 1355 consecutive transabdominal chorionic villus samplings in 1351 patients, Chi Med J, 118, 1675 Sánchez, 1999, Cytogenetic study of spontaneous abortions by transabdominal villus sampling and direct analysis of villi, Prenat Diagn, 19, 601, 10.1002/(SICI)1097-0223(199907)19:7<601::AID-PD564>3.0.CO;2-0 Khare, 2005, A comparison of prenatal versus postnatal karyotyping for the investigation of intrauterine fetal death after the first trimester of pregnancy, Prenat Diagn, 25, 1192, 10.1002/pd.1295 Ribas I. Estudi morfològic i citogenètic de vellositats corials procedents d’avortaments espontanis. TESI. Facultat de Ciències. Universitat Autònoma de Barcelona. 2002 Morales, 2007, Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities, Am J Med Genet, 146A, 66, 10.1002/ajmg.a.32058 Association of clinical cytogeneticists (ACC). Professional guidelines for clinical cytogenetics. Prenatal Diagnosis best practice guidelines: chorionic villus samples (CVS). 2007:V1.02 [actualizada Dic 2009; citada 22 May 2013]. Disponible en: www.cytogenetics.org.uk/prof_standards/acc_prenatal_bp_dec2009_1.00.pdf Eiben, 1999, Cytogenetics analysis of 750 spontaneous abortions with the direct-preparation methods of chorionic villi and its implications for studyng genetic causes of pregnancy wastage, Am J Hum Genet, 47, 656 Nagaishi, 2004, Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan, J Obstet Gynecol Res, 3, 237, 10.1111/j.1447-0756.2004.00191.x Warburton, 1987, Does the karyotype of a spontaneous abortion predict the karyotype of a subsequent abortion? - Evidence from 273 women with two karyotyped spontaneous abortions, Am J Hum Genet, 41, 465 Holgado, 2011, Incidence of placental mosaicism leading to discrepant results between QF-PCR and karyotyping in 22.825 chorionic villus samples, Prenat Diagn, 31, 1029, 10.1002/pd.2826 Cirigliano, 2009, Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience, Prenat Diagn, 29, 40, 10.1002/pd.2192 Donaghue, 2005, Detection of mosaicism for primary trisomies in prenatal sample by QF-PCR and karyotype analysis, Prenat Diagn, 25, 65, 10.1002/pd.1086 Waters, 2007, Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS, Prenat Diagn, 27, 332, 10.1002/pd.1675 Barranco, 2011, Reacción en cadena de la polimerasa cuantitativa y cultivo largo: ¿el mejor método para el estudio citogenético de muestras de vellosidad corial?, Progr Diagn Prenat, 22, 86 Lau, 2013, Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing asa clinical service, Prenat Diagn, 33, 1, 10.1002/pd.4076 Pan, 2013, Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due a trisomic rescue, Prenat Diagn, 33, 1, 10.1002/pd.4069 Masuzaki, 2004, Detection of cell free placanetal DNA in materal plasma: direct evidence from three cases of placental mosaicism, J Med Genet, 41, 289, 10.1136/jmg.2003.015784 Olaya, 2009, El diagnóstico prenatal no invasivo: análisis de células y ADN fetal circulante en la sangre materna, Iatreia, 22, 342