2020.04 - 《单基因隐性遗传病扩展性携带者筛查的遗传咨询》
2020.10 - 《关于胎儿染色体异常筛查指南》[^1]
[^1]:American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstet Gynecol. 2020 Oct;136(4):e48-e69. doi: 10.1097/AOG.0000000000004084. PMID: 32804883.
2021.06 - 《基于DNA的健康人群携带者筛查声明》[^2]
[^2]:Murray MF, Giovanni MA, Doyle DL, Harrison SM, Lyon E, Manickam K, Monaghan KG, Rasmussen SA, Scheuner MT, Palomaki GE, Watson MS; ACMG Board of Directors. DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Jun;23(6):989-995. doi: 10.1038/s41436-020-01082-w. Epub 2021 Mar 16. PMID: 33727704.
2021.07 - 《隐性遗传病携带者筛查指南》[^3]
[^3]:Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS; ACMG Professional Practice and Guidelines Committee. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806. doi: 10.1038/s41436-021-01203-z. Epub 2021 Jul 20. Erratum in: Genet Med. 2021 Aug 27;: PMID: 34285390; PMCID: PMC8488021.
2021年7月20日，美国医学遗传学和基因组学学会（the American College of Medical Genetics and Genomics ，ACMG，以下简称“ACMG”）更新了常染色体隐性和X连锁疾病携带者筛查指南，建议采用一种新的基因分级方法，对怀孕或孕前的所有个体进行常染色体隐性和X连锁疾病筛查。更新后的指南中，作者建议建立一个基于分级结构的携带者筛查系统。在该系统中，所有怀孕患者和计划怀孕患者都应接受三级携带者筛查。作者将第三级筛查定义为携带者筛查，筛查频率为1/200或更高（包括X连锁疾病）。ACMG现在已经明确列出113个基因，包括常染色体隐性基因和X连锁遗传基因（X-linked），这些基因应被视为对孕前和产前患者的标准筛查基因。
2022.03 -《生殖携带者筛查和产前诊断的基因检测》[^4]
[^4]: AIM CLINICAL APPROPRIATENESS GUIDELINES FOR GENETIC TESTING FOR REPRODUCTIVE CARRIER SCREENING AND PRENATAL DIAGNOSIS.2022 AIM Specialty Health GEN03-0322.1
2022年3月，AIM 发布生殖携带者筛查和产前诊断基因检测临床适用性指南，指南中涉及的检测包括家族突变和常见和种族遗传疾病的携带者检测；植入前筛查和诊断；产前筛查和诊断；并测试复发性流产和不孕症。