孕前保健的临床内容：遗传学与基因组学
The clinical content of preconception care: genetics and genomics.
作者信息
Solomon Benjamin D, Jack Brian W, Feero W Gregory
机构信息
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
出版信息
Am J Obstet Gynecol. 2008 Dec;199(6 Suppl 2):S340-4. doi: 10.1016/j.ajog.2008.09.870.
The prevalence of paternal and maternal genetic conditions that affect pregnancy varies according to many factors that include parental age, medical history, and family history. Although some genetic conditions that affect pregnancy are identified easily early in life, other conditions are not and may require additional diagnostic testing. A complete 3-generation family medical history that includes ethnicity information about both sides of the family is arguably the single best genetic "test" that is applicable to preconception care. Assessment of genetic risk by an experienced professional has been shown to improve the detection rate of identifiable risk factors. Learning about possible genetic issues in the preconception period is ideal, because knowledge permits patients to make informed reproductive decisions. Options that are available to couples before conception include adoption, surrogacy, use of donor sperm, in vitro fertilization after preimplantation genetic diagnosis, and avoidance of pregnancy. Future technologic advances will increase the choices that are available to couples.
影响妊娠的父系和母系遗传疾病的患病率因许多因素而异，这些因素包括父母年龄、病史和家族史。虽然一些影响妊娠的遗传疾病在生命早期很容易被识别，但其他疾病并非如此，可能需要额外的诊断测试。一份完整的三代家族病史，包括家族双方的种族信息，可以说是适用于孕前保健的唯一最佳遗传“检测”。由经验丰富的专业人员进行遗传风险评估已被证明可以提高可识别风险因素的检出率。在孕前阶段了解可能的遗传问题是理想的，因为知识能让患者做出明智的生殖决策。夫妻在受孕前可选择的方式包括领养、代孕、使用捐赠精子、植入前基因诊断后的体外受精以及避免怀孕。未来的技术进步将增加夫妻可选择的方式。
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