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南非某社区针对胎儿异常的遗传咨询。

Genetic counseling for fetal abnormalities in a South African community.

作者信息

Todd Caryn, Haw Tabitha, Kromberg Jennifer, Christianson Arnold

机构信息

Human Genetics Division, University of the Witwatersrand and National Health Laboratory Service, PO Box 1038, Johannesburg, South Africa.

出版信息

J Genet Couns. 2010 Jun;19(3):247-54. doi: 10.1007/s10897-010-9278-0. Epub 2010 Feb 5.

Abstract

Fetal abnormalities are congenital abnormalities identified prenatally. Women who have a fetal abnormality detected often have to make difficult decisions regarding continuation or termination of the pregnancy. The aims of this research project were: to investigate some of the factors that influenced the decision to terminate a pregnancy in which fetal abnormalities were diagnosed; and to determine the implications for genetic counseling practice in South Africa. The study was retrospective and file-based. A total of 171 women counseled for fetal abnormalities, between 2002 and 2006, were identified and relevant data were collected from their records. Altogether 116/170 (68.2%) women were offered termination of pregnancy, and 73/113 (65%) requested the procedure. Early gestation, gestation at the time termination was offered, and ethnicity of the patient, were significantly associated with a termination request. Black patients were less likely to request termination, but more likely to receive a late diagnosis than other patients. Genetic counselors need to adopt an advocacy and educational role to improve this situation. Furthermore, a better understanding of the cultural and ethnicity-related issues is required.

摘要

胎儿异常是产前确诊的先天性异常。检测出胎儿异常的女性往往要就继续妊娠还是终止妊娠做出艰难决定。本研究项目的目的是:调查一些影响诊断出胎儿异常后终止妊娠决定的因素;并确定对南非遗传咨询实践的影响。该研究是回顾性的且基于档案。共识别出2002年至2006年间因胎儿异常接受咨询的171名女性,并从她们的记录中收集了相关数据。总共116/170(68.2%)的女性被建议终止妊娠,其中73/113(65%)的女性要求进行该手术。妊娠早期、建议终止妊娠时的孕周以及患者的种族,与终止妊娠的请求显著相关。黑人患者要求终止妊娠的可能性较小,但与其他患者相比,更有可能得到较晚的诊断。遗传咨询师需要发挥倡导和教育作用以改善这种情况。此外,需要更好地理解与文化和种族相关的问题。

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