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首页> 外文期刊>Current opinion in obstetrics & gynecology >Genetic screening and counseling.
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Genetic screening and counseling.

机译：基因筛查和咨询。

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PURPOSE OF REVIEW: Recent advances in genetic technology have substantial implications for prenatal screening and diagnostic testing. The past year has also seen important changes in recommendations surrounding the genetic counseling that occurs in the provision of such testing. RECENT FINDINGS: Multiple screening tests for single gene disorders, chromosomal abnormalities, and structural birth defects are now routinely offered to all pregnant women. Ethnicity-based screening for single gene disorders includes Tay Sachs disease, cystic fibrosis, and hemoglobinopathies. Recent discussions have involved, not only additional disorders that warrant screening, but a re-evaluation of the paradigm of selecting disorders for population-based screening. Testing for chromosomal abnormalities has seen the introduction of first-trimester screening, as well as strategies to improve detection through sequential testing. Changes in recommendations for screening compared with diagnostic testing, and a move away from maternal age-based dichotomizing of testing, have had major implications for provision of genetic counseling by providers of prenatal care. SUMMARY: Advances in genetic testing have resulted in tremendous benefits to patients, and challenges to providers. New approaches to education and counseling are needed to assure that all patients receive a complete and balanced review of their prenatal genetic-testing options.
机译：审查目的：基因技术的最新进展对产前筛查和诊断检测具有重大意义。在过去的一年中，围绕提供此类检测的遗传咨询的建议也发生了重大变化。最近的发现：现在，常规向所有孕妇提供针对单基因疾病，染色体异常和结构性先天缺陷的多重筛查测试。基于种族的单基因疾病筛查包括泰晤士病，囊性纤维化和血红蛋白病。最近的讨论不仅涉及需要进行筛查的其他疾病，而且还涉及对基于人群筛查的疾病选择范式的重新评估。染色体异常检测已经引入了孕早期筛查，以及通过顺序检测提高检测率的策略。与诊断测试相比，筛查建议的变化，以及从基于母亲年龄的测试二分法的转变，已经对产前保健提供者提供遗传咨询产生了重大影响。简介：基因检测的进步为患者带来了巨大的收益，并给医疗服务提供者带来了挑战。需要新的教育和咨询方法，以确保所有患者都对其产前基因测试选择进行完整而平衡的评估。

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