Mennuti Michael T
Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
Clin Obstet Gynecol. 2008 Mar;51(1):3-23. doi: 10.1097/GRF.0b013e318160f241.
Genetic screening is used to identify individuals who have genetic variations or mutations that are associated with a particular disorder. Genetic screening may be useful to plan for periodic evaluation, implementation of preventive strategies, or initiation of therapeutic interventions. Current practice is to offer carrier screening for certain genetic diseases during the preconception encounter or more commonly as part of early prenatal care.
基因筛查用于识别那些具有与特定疾病相关的基因变异或突变的个体。基因筛查对于规划定期评估、实施预防策略或启动治疗干预可能是有用的。目前的做法是在孕前检查时或更常见地作为早期产前护理的一部分，对某些遗传疾病进行携带者筛查。
