Obstet Gynecol. 2020 Oct;136(4):e48-e69. doi: 10.1097/AOG.0000000000004084.
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 to Practice Bulletin No. 162, Prenatal Diagnostic Testing for Genetic Disorders. For additional information regarding counseling about genetic testing and communicating test results, refer to Committee Opinion No. 693, Counseling About Genetic Testing and Communication of Genetic Test Results. For information regarding carrier screening for genetic conditions, refer to Committee Opinion No. 690, Carrier Screening in the Age of Genomic Medicine and Committee 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.
产前染色体异常检测旨在为患者携带染色体疾病胎儿的风险提供准确评估。有多种产前筛查和诊断检测可供选择；每种检测都提供了不同程度的信息和性能，并且都有相对的优势和局限性。在考虑筛查检测特征时，没有一种检测在所有情况下都具有优势，这导致需要产科护理专业人员提供细致入微的、以患者为中心的咨询，并由患者做出复杂的决策。每个患者在每次妊娠时都应接受关于胎儿染色体异常检测的选择咨询。重要的是，产科护理专业人员不仅要讨论胎儿染色体异常的风险，还要讨论可用的筛查和诊断检测的相对益处和局限性。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、可及的医疗保健资源、价值观、利益和目标的知情患者选择。应向所有患者提供筛查和诊断检测，并且所有患者在咨询后都有权接受或拒绝检测。本实践公告的目的是提供有关胎儿染色体异常可用筛查检测选项的最新信息，并审查它们的益处、性能特征和局限性。有关遗传疾病产前诊断检测的信息，请参阅实践公告第 162 号，遗传疾病产前诊断检测。有关遗传检测咨询和遗传检测结果沟通的更多信息，请参阅委员会意见第 693 号，遗传检测咨询和遗传检测结果沟通。有关遗传状况携带者筛查的信息，请参阅委员会意见第 690 号，基因组医学时代的携带者筛查和委员会意见第 691 号，遗传状况携带者筛查。本实践公告已修订，以进一步阐明胎儿染色体异常筛查方法，包括扩展关于所有患者（无论其母亲年龄或基线风险如何）使用游离胎儿 DNA 的信息，并添加与患者咨询相关的指导。
