Screening for Fetal Chromosomal Abnormalities ACOG Practice Bulletin Summary, Number 226
Screening for Fetal Chromosomal Abnormalities ACOG Practice Bulletin Summary, Number 226
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DOI：
10.1097/aog.0000000000004084
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发表时间：
2020-10-01
影响因子：
7.2
通讯作者：
Norton, Mary E.
中科院分区：
文献类型：
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作者：
Rose, Nancy C.;Kaimal, Anjali J.;Norton, Mary E.
对染色体异常的产前检测是为了准确评估患者怀上染色体异常胎儿的风险。有各种各样的产前筛查和诊断测试可用；每一种都提供不同程度的信息和表现，每一种都有相对的优势和局限性。在考虑筛查测试的特点时，没有一种测试在所有情况下都是优越的，这导致需要产科护理专业人员进行细微差别的、以患者为中心的咨询，以及患者复杂的决策。每个患者都应该在每次怀孕期间接受关于胎儿染色体异常检测的咨询。重要的是，产科护理专业人员不仅要准备好讨论胎儿染色体异常的风险，而且要讨论现有筛查和诊断测试的相对好处和局限性。染色体异常检测应该是基于提供充分和准确的信息、患者的临床情况、可获得的卫生保健资源、价值、兴趣和目标的患者的知情选择。所有患者都应该接受筛查和诊断测试，所有患者都有权在咨询后接受或拒绝测试。本实践报告的目的是提供有关可用于胎儿染色体异常的筛查测试选项的最新信息，并回顾它们的优点、性能特点和局限性。有关遗传疾病的产前诊断测试的信息，请参阅第162号实践公告，遗传疾病的产前诊断测试。有关基因检测咨询和检测结果传达的更多信息，请参考委员会第693号意见，基因检测咨询和基因检测结果传达。有关遗传病携带者筛查的信息，请参阅委员会第690号意见，基因组医学时代的携带者筛查，以及委员会意见691，遗传病携带者筛查。本实践公告已被修订，以进一步阐明筛查胎儿染色体异常的方法，包括扩大关于所有患者使用无细胞DNA的信息，而不考虑孕妇的年龄或基线风险，并增加与患者咨询相关的指导。
Prenatal testing for chromosomal abnormalities is designed to provide an accurate assessment of a patient's risk of carrying a fetus with a chromosomal disorder. A wide variety of prenatal screening and diagnostic tests are available; each offers varying levels of information and performance, and each has relative advantages and limitations. When considering screening test characteristics, no one test is superior in all circumstances, which results in the need for nuanced, patient-centered counseling from the obstetric care professional and complex decision making by the patient. Each patient should be counseled in each pregnancy about options for testing for fetal chromosomal abnormalities. It is important that obstetric care professionals be prepared to discuss not only the risk of fetal chromosomal abnormalities but also the relative benefits and limitations of the available screening and diagnostic tests. Testing for chromosomal abnormalities should be an informed patient choice based on provision of adequate and accurate information, the patient's clinical context, accessible health care resources, values, interests, and goals. All patients should be offered both screening and diagnostic tests, and all patients have the right to accept or decline testing after counseling. The purpose of this Practice Bulletin is to provide current information regarding the available screening test options available for fetal chromosomal abnormalities and to review their benefits, performance characteristics, and limitations. For information regarding prenatal diagnostic testing for genetic disorders, refer toPractice Bulletin No. 162, Prenatal Diagnostic Testing for Genetic Disorders. For additional information regarding counseling about genetic testing and communicating test results, refer toCommittee Opinion No. 693, Counseling About Genetic Testing and Communication of Genetic Test Results. For information regarding carrier screening for genetic conditions, refer toCommittee Opinion No. 690, Carrier Screening in the Age of Genomic Medicine,andCommittee Opinion No. 691, Carrier Screening for Genetic Conditions. This Practice Bulletin has been revised to further clarify methods of screening for fetal chromosomal abnormalities, including expanded information regarding the use of cell-free DNA in all patients regardless of maternal age or baseline risk, and to add guidance related to patient counseling.