遗传学分子检测时代基层妇产科医师出生缺陷防控的现状及思考

Discussion on the status quo and solutions to the prevention and control of birth defects among primary obstetricians and gynecologists in the era of molecular genetic testing

出生缺陷是严重影响出生人口素质的因素之一。随着分子遗传学技术的发展及临床应用,越来越多导致出生缺陷的遗传病得以检出,出生缺陷的防控全面进入分子时代。基层妇产科医师是出生缺陷的第一道防线,但在分子遗传学基础知识及临床应用方面的短板也日益凸显。现阶段各级政府及主管部门已逐步重视上述问题,开展了面向基层妇产科医师的出生缺陷培训项目,如"产前筛查和产前诊断技术专业人员岗位培训""全国出生缺陷人才培训项目""全国基层产科医师培训项目"等,在一定程度上解决了基层出生缺陷防控的燃眉之急。但诸如基层妇产科医师出生缺陷知识体系建立不健全、人才储备匮乏等问题也暴露明显。本文旨在通过分析遗传学分子检测时代基层妇产科在出生缺陷防控方面的困惑与挑战,探讨全面提高分子检测时代基层医师出生缺陷防控能力的途径。

Birth defects are an important factor for the quality of newborn population.With the development of molecular genetic technology,an increasing number of genetic disorders leading to birth defects can now be detected.The lack of the knowledge for the basics and clinical applications of molecular genetic techniques have emerged as a shortcoming for primary care physicians who have formed the first tier prevention for birth defects.Currently,government has paid more attention to the above problems and formulated more training programs for primary obstetricians and gynecologists,e.g.,"Prenatal Screening and Prenatal Diagnosis Post Training Program","National Birth Defects Training Program","National Primary Obstetrician Training Program".To some extent,such programs have met the urgent need for birth defect prevention in primary hospitals.But at the same time,some problems have also emerged.For instance,the knowledge for birth defects among primary obstetricians and gynecologists is poor,and there is lack of young personnel.This article has aimed to discuss the strategies to systematically improve the ability for preventing birth defects among primary care physicians by analyzing the obstacles and challenges for primary obstetricians and gynecologists in the era of molecular genetic testing.