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目的:研究分析科学有效的医学遗传咨询服务对出生缺陷干预所产生的影响效果,意在降低我国出生缺陷人口率。方法:回顾性分析2010年6月~2014年6月期间(其中2010年6月~2012年6月期间为第一干预阶段,该干预阶段给予常规出生缺陷干预服务;2013年7月~2014年6月为第二干预阶段,该干预阶段给予优质医学遗传咨询以及针对性出生缺陷干预服务)本院两个阶段产生的出生缺陷事件的具体原因,并且依照这些出生缺陷原因探讨出有效干预对策。结果:第一干预阶段出现了60例出生缺陷事件,60例出生缺陷事件中有30例是由于遗传因素引起的,占出生缺陷事件总例数的50.00%;10例出生缺陷事件是由于环境因素引起的,占出生缺陷事件总例数的16.66%;由于药物因素引起的出生缺陷为6例,占出生缺陷事件总例数的10.00%;由于心理因素引起的出生缺陷为4例,占出生缺陷事件总例数的6.66%。第二干预阶段中出现了10例出生缺陷事件,两组出生缺陷事件发生率进行组间对比具有显著差异,P<0.05,差异具有统计学意义。结论:在我国出生缺陷干预的实践过程当中,遗传咨询服务,例如说婚前筛查、孕前筛查以及产前筛查的有效实施均在减少我国缺陷人口出生率的方面起到了不可替代的重要作用。
Objective: To study and analyze the effect of scientific and effective medical genetic counseling service on the intervention of birth defects, aiming to reduce the birth defect population rate in our country. Methods: A retrospective analysis was conducted from June 2010 to June 2014 (among which the first intervention period was from June 2010 to June 2012, and routine birth defect intervention was given during the intervention period; from July 2013 to 2014 June for the second intervention phase, quality medical genetic counseling for this intervention phase, and targeted birth defect intervention services.) The specific causes of birth defects in both stages of this hospital and effective intervention strategies are explored in light of these causes of birth defects. Results: There were 60 birth defects in the first intervention stage, 30 of 60 birth defects were caused by genetic factors, accounting for 50.00% of the total number of birth defects. Ten birth defects were caused by environmental factors Accounting for 16.66% of the total cases of birth defects; 6 cases of birth defects due to drug factors, accounting for 10.00% of the total number of birth defects; 4 cases of birth defects due to psychological factors, accounting for birth defects 6.66% of the total number of incidents. There were 10 cases of birth defects in the second intervention stage. There was significant difference in the incidence of birth defects among the two groups (P <0.05), the difference was statistically significant. Conclusion: During the practice of birth defect intervention in our country, genetic counseling services such as premarital screening, preconception screening and the effective implementation of prenatal screening all play an irreplaceable important role in reducing the birth rate of the defective population in our country.