部分妇幼保健机构遗传咨询现状调查

目的 了解妇幼保健机构中遗传咨询工作的现状。 方法 采用邮寄调查表的方法对参加“中美预防神经管畸形和残疾合作项目”的33个市县的妇幼保健院(所)进行调查。 结果 33张问卷全部收回且均为有效问卷。在33所妇幼保健机构中76%(25/33)提供遗传咨询服务,其中80%(20/25)有遗传咨询或类似科室,8%(2/25)的机构的遗传咨询单独由专职咨询医生承担,8%(2/25)的遗传咨询由专职咨询医生、婚检医生、妇产科医生、儿科医生等共同承担,84%(21/25)由婚检医生单独或与妇儿临床及保健医生共同承担,32%(8/25)机构中的咨询医生没有接受过遗传咨询专业培训,76%(19/25)的机构没有遗传咨询工作指南和考核标准。67%(22/33)的机构没有遗传学实验手段,30%(10/33)的机构不提供新生儿遗传病筛查服务。 结论 妇幼保健机构中遗传咨询开展的不够广泛,从事遗传咨询工作的专业技术人员不足,机构专业设施缺乏。

Current status of genetic counsiling in maternal and child health care institutions

Objective To understand the current status of genetic counseling in maternal and child health care institutions. Methods Self-administered questionnaires were mailed to the 33 maternal and infant health care institutions that take part in the US-China Collaborative Project on Birth Defects and Disabilities Prevention. The director of the institution or the head of the department of genetic counseling, if available, was asked to fill in the questionnaire. Results All 33 questionnaires were returned and were validly answered. Of these institutions, 76 % (25/ 33) provide genetic counseling services, among which, 80 % (20/25) have a department of genetic counseling or a similar department. Genetic counseling services in most institutions are shared by full time counselors, premarital health examination physicians, obstetricians/gynecologists, or pediatricians. In about one-third of the institutions, the counseling physicians have not had any training in genetic counseling. 76 % (19/25) of the institutions that provides counseling services have no practice guidelines or evaluation criteria. About one-third of the institutions have no genetic test capabilities. Thirty percent of the institutions have no neonatal screening programs in place. Conclusion Genetic counseling services in maternal and child health care institutions are limited and the quality of practice has much room for improvement.