2022,
Genetics in Medicine.
DOI:
10.1016/j.gim.2022.11.004
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Jeffrey S. Dungan
, Susan Klugman
, Sandra Darilek
, Jennifer Malinowski
, Yassmine M.N. Akkari
, Kristin G. Monaghan
, Angelika Erwin
, Robert G. Best
Abstract:
Purpose: This workgroup aimed to develop an evidence-based clinical practice guideline for the use of noninvasive prenatal screening (NIPS) for pregnant individuals at general risk for fetal trisomy 21, trisomy 18, or trisomy 13 and to evaluate the utility of NIPS for other chromosomal disorders.
Methods: The NIPS Evidence-Based Guideline Work Group (n = 7) relied on the results from the recent American College of Medical Genetics and Genomics (ACMG) systematic review to form the evidentiary basis of this guideline. Workgroup members used the Grading of Recommendations Assessment, Development, and Evaluation Evidence to Decision framework to draft recommendations. The guideline underwent extensive internal and external peer review with a public comment period before approval by the ACMG Board of Directors.
Results: Evidence consistently demonstrated improved accuracy of NIPS compared with traditional screening methods for trisomies 21, 18, and 13 in singleton and twin gestations. Identification of rare autosomal trisomies and other microdeletion syndromes with NIPS is an emerging area of interest.
Conclusion: ACMG strongly recommends NIPS over traditional screening methods for all pregnant patients with singleton and twin gestations for fetal trisomies 21, 18, and 13 and strongly recommends NIPS be offered to patients to screen for fetal sex chromosome aneuploidy.
Methods: The NIPS Evidence-Based Guideline Work Group (n = 7) relied on the results from the recent American College of Medical Genetics and Genomics (ACMG) systematic review to form the evidentiary basis of this guideline. Workgroup members used the Grading of Recommendations Assessment, Development, and Evaluation Evidence to Decision framework to draft recommendations. The guideline underwent extensive internal and external peer review with a public comment period before approval by the ACMG Board of Directors.
Results: Evidence consistently demonstrated improved accuracy of NIPS compared with traditional screening methods for trisomies 21, 18, and 13 in singleton and twin gestations. Identification of rare autosomal trisomies and other microdeletion syndromes with NIPS is an emerging area of interest.
Conclusion: ACMG strongly recommends NIPS over traditional screening methods for all pregnant patients with singleton and twin gestations for fetal trisomies 21, 18, and 13 and strongly recommends NIPS be offered to patients to screen for fetal sex chromosome aneuploidy.
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2023-02-28 14:45:00
半面阳光:
#paper https://doi.org/10.1016/j.gim.2022.11.004 Genetics in Medicine, 2023, Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). ACMG在2022年12月发表了最新版的NIPT应用指南。这个版本的指南是对2016版指南的更新。这次更新过程中，ACMG的NIPS专项小组采用系统性综述和GRADE“证据到决策”框架等分析评估方法，对NIPS用于一般风险人群的各项参数进行了评估，形成了6条主要应用性建议。相较于传统的筛查方法，NIPS在21、18和13三体的筛查性检测中，无论单胎妊娠还是双胎妊娠，都展现了其优越性。ACMG给出明确意见，建议一般风险人群采用NIPS进行21、18和13三体的筛查，以替代传统筛查手段。同时明确指出，建议使用NIPS来筛查胎儿性染色体非整倍体异常。除了这几条给出“强烈建议”的意见之外，指南还对NIPS用于小片段缺失以及其他类型CNVs的检测给出了指导性建议。