Afroze Bushra, Jehan Fyezah
J Pak Med Assoc. 2014 Sep;64(9):1008-11.
To assess the needs related to prenatal genetic counselling in a developing country.
The prospective observational study was conducted at the Prenatal-Genetic Counselling Clinic of Aga Khan University Hospital, Karachi, from October 2007 to September 2010. In-depth interviews were conducted and the data was stored in the form of patient charts. Information was then extracted from the charts and entered into a structured questionnaire.
Of the 93 couples in the study, 49 (53%) were in the self-referral group and 44 (47%) were in the physician- referral group. Diagnosis was not given for previously affected children by the paediatrician or by obstetrician for recurrent miscarriages in 68 (73%)cases. Besides, 20 (22%) couples had voluntarily terminated a pregnancy without any tests because of the fear of having a diseased child. Eleven (12%) couples were looking for amniocentensis or chorionic villus sampling. Death in previous children was the main reason to seek genetic counselling and was seen in 57 (61%) couples. Consanguinity was seen in 77 (83%) couples.
A clear deficiency of knowledge of genetics was seen among the non-genetic healthcare providers. Demand of antenatal genetic testing among the public was also seen, highlighting the need of diagnostic facility for genetic and metabolic disorders. However, this needs to be explored in the context of the existing healthcare infrastructure.
评估一个发展中国家与产前遗传咨询相关的需求。
这项前瞻性观察性研究于2007年10月至2010年9月在卡拉奇阿迦汗大学医院的产前遗传咨询诊所进行。进行了深入访谈，数据以患者病历的形式存储。然后从病历中提取信息并录入结构化问卷。
在该研究的93对夫妇中，49对（53%）属于自我转诊组，44对（47%）属于医生转诊组。在68例（73%）病例中，儿科医生或产科医生未对先前患病儿童或复发性流产做出诊断。此外，20对（22%）夫妇因担心生出患病儿童而未经任何检查自行终止妊娠。11对（12%）夫妇寻求羊水穿刺或绒毛取样。先前孩子死亡是寻求遗传咨询的主要原因，57对（61%）夫妇存在这种情况。77对（83%）夫妇存在近亲结婚情况。
非遗传医疗服务提供者中存在明显的遗传学知识欠缺。公众对产前基因检测也有需求，这凸显了对遗传和代谢紊乱诊断设施的需求。然而，这需要在现有医疗基础设施的背景下进行探索。
