【24h】

The case for universal prenatal genetic counseling

机译:普遍产前遗传咨询的情况

获取原文
获取原文并翻译 | 示例
       

摘要

Recent scientific advances in human genetics and prenatal diagnostic technologies challenge the counseling infrastructure of most obstetric services. In just the past several years, the American College of Obstetricians and Gynecologists has published guidelines on fragile X, spinal muscular atrophy, and cystic fibrosis screening, and new technologies including microarray analysis, cell-free fetal DNA, and carrier gene panels have become available. Obstetrics is at a crossroads, which requires consideration of new ways of providing genetic counseling. Currently a two-tiered process is used. Specific tests such as first-or second-trimester screening for aneuploidy are offered to virtually all women by a clinician who provides counseling and who may offer additional tests to patients in particular ethnic groups and those with unique obstetric or family histories. Frequently only this latter group and those who "screen positive" on the universally offered tests are sent to a genetic counselor. This approach worked well when screening focused on a relatively small number of diagnoses, but that is no longer the case. We argue that obstetricians, who were able to maintain mastery over the content of counseling when aneuploidies and karyotype analysis were the essential diagnoses and diagnostic tools available, are rarely able to offer the same level of expertise regarding the chromosomal, genomic, and genetic diseases now diagnosable and the newest available diagnostic methodologies. Therefore, all women, not just those surpassing some poorly defined level of risk, deserve genetic counseling. Approaches for achieving this goal are discussed.
机译:人类遗传学和产前诊断技术的最新科学进展对大多数产科服务的咨询基础设施提出了挑战。在过去的几年中,美国妇产科学院已经发布了有关脆弱X射线,脊髓性肌萎缩症和囊性纤维化筛查的指南,并且包括微阵列分析,无细胞胎儿DNA和载体基因面板在内的新技术已经问世。 。产科正处于十字路口,这需要考虑提供遗传咨询的新方法。当前,使用两层过程。几乎所有妇女都由提供临床咨询的临床医生进行特定检查,例如非整倍体的第一或第二个孕期筛查,该临床医生会提供咨询,并且可能会向特定种族的患者以及具有独特产科或家族史的患者提供其他检查。通常,只有后一组和那些在普遍提供的测试中“筛查阳性”的人才被送往遗传咨询师。当筛查只针对相对较少的诊断时,此方法效果很好,但情况不再如此。我们认为,当非整倍性和核型分析是可用的基本诊断和诊断工具时,能够对咨询内容保持精通的妇产科医生现在很少能够提供与染色体,基因组和遗传疾病相同水平的专业知识可诊断的和最新可用的诊断方法。因此,所有妇女,不仅是那些风险水平未明确定义的妇女,都应接受遗传咨询。讨论了实现此目标的方法。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号