Brundage Stephanie C, Strossner Mary
J S C Med Assoc. 2002 Oct;98(6):255-9.
Genetics is an important area of focus for the preconception visit (Table 4). Folic acid should be recommended for all women. The genetic and pregnancy history should be evaluated for clues to a genetic disorder. Preconception screening and counseling are available for many diseases that are indicated in the family history. Screening may be offered for sickle cell anemia, thalassemia, Tay Sachs disease, and cystic fibrosis in the appropriate population groups. Older couples should be counseled about their increased risks for having complications during pregnancy and for having children with genetic disorders.
遗传学是孕前检查的一个重要关注领域(表4)。应向所有女性推荐叶酸。应评估遗传和妊娠史,以寻找遗传疾病的线索。对于家族史中提示的许多疾病,可提供孕前筛查和咨询。在适当的人群中,可针对镰状细胞贫血、地中海贫血、泰-萨克斯病和囊性纤维化进行筛查。对于年龄较大的夫妇,应就其孕期发生并发症及生育患有遗传疾病子女的风险增加进行咨询。