Incidence and outcome of chromosomal mosaicism found at the time of chorionic villus sampling.
作者： James D. Goldberg , Monica M. Wohlferd
DOI: 10.1016/S0002-9378(97)70356-9
关键词:
摘要: Abstract OBJECTIVE: Chromosomal mosaicism has been reported in about 1% to 3% of chorionic villus sampling specimens. This report provides incidence and outcome information that should be useful counseling patients found have on sampling. STUDY DESIGN: A retrospective analysis 11,200 consecutive undergoing at the University California, San Francisco, during period from Jan. 1, 1984, June 1996, was undertaken. RESULTS: total 140 cases were identified for an 1.3%. Follow-up available 130 cases, 26 which (20%) confirmed fetal tissue. Confirmation rates specific types as follows: autosomal trisomy 7.6%, sex chromosome 25%, structural abnormality 27.3%, marker 77.8%. Neonatal normal all pregnancy continued. CONCLUSION: The data indicate most chromosomal by is unlikely clinically significant fetus. (Am J Obstet Gynecol 1997;176:1349-53.)
elsevier.com
sci-hub.se 参考文章(19)
E A Werder, A A Schinzel, I Lorda-Sanchez, W P Robinson, F Binkert, F Bernasconi, Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. American Journal of Human Genetics. ,vol. 56, pp. 444- 451 ,(1995)
D. J. H. Brock, M. A. Ferguson-Smith, C. H. Rodeck, Prenatal diagnosis and screening Chruchill Livingstone. ,(1992)
DH Ledbetter, E Engel, Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis Human Molecular Genetics. ,vol. 4, pp. 1757- 1764 ,(1995) , 10.1093/HMG/4.SUPPL_1.1757
R. J. Wapner, J. L. Simpson, M. S. Golbus, J. M. Zachary, D. H. Ledbetter, R. J. Desnick, S. E. Fowler, L. G. Jackson, H. Lubs, R. J. Mahony, E. Pergament, G. G. Rhoads, J. D. Shulman, F. De La Cruz, Chorionic mosaicism: association with fetal loss but not with adverse perinatal outcome. Prenatal Diagnosis. ,vol. 12, pp. 347- 355 ,(1992) , 10.1002/PD.1970120504
Boris T. Wang, Willow Peng, Kao-Tien Cheng, Shui-Feng Chiu, William Ho, Yusuf Khan, Maria Wittman, John Williams, Chorionic villi sampling: laboratory experience with 4,000 consecutive cases. American Journal of Medical Genetics. ,vol. 53, pp. 307- 316 ,(1994) , 10.1002/AJMG.1320530402
Beth Roland, Lauren Lynch, Gertrud Berkowitz, Randi Zinberg, Confined placental mosaicism in CVS and pregnancy outcome. Prenatal Diagnosis. ,vol. 14, pp. 589- 593 ,(1994) , 10.1002/PD.1970140713
D. H. Ledbetter, J. M. Zachary, J. L. Simpson, M. S. Golbus, E. Pergament, L. Jackson, M. J. Mahoney, R. J. Desnick, J. Schulman, K. L. Copeland, Y. Verlinsky, T. Yang-Feng, S. A. Schonberg, A. Babu, A. Tharapel, A. Dorfmann, H. A. Lubs, G. G. Rhoads, S. E. Fowler, F. De La Cruz, Cytogenetic results from the U.S. Collaborative Study on CVS. Prenatal Diagnosis. ,vol. 12, pp. 317- 345 ,(1992) , 10.1002/PD.1970120503
James P. Crane, Sau W. Cheung, An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue Prenatal Diagnosis. ,vol. 8, pp. 119- 129 ,(1988) , 10.1002/PD.1970080206
W.A. Hogge, S.A. Schonberg, M.S. Golbus, Chorionic villus sampling: experience of the first 1000 cases. American Journal of Obstetrics and Gynecology. ,vol. 154, pp. 1249- 1252 ,(1986) , 10.1016/0002-9378(86)90707-6
J. Wolstenholme, D. E. Rooney, E. V. Davison, Confined placental mosaicism, IUGR, and adverse pregnancy outcome: A controlled retrospective U.K. collaborative survey Prenatal Diagnosis. ,vol. 14, pp. 345- 361 ,(1994) , 10.1002/PD.1970140505