美国专业学会表态支持NIPT替代传统三体综合症筛查技术

无创产前基因筛查(NIPS)即通常所说无创产前基因检测(NIPT),是一项通过孕妇外周血检测胎儿是否患有常见染色体异常疾病的方法。因具有方便、快捷且无创等优点,该方法在全球迅速被采用。国内,华大基因、贝瑞和康在该领域摇摇领先。其中华大基因在2016年3月宣布成为全球首家突破100万例检测量的公司;在美国,Sequenom、Verinata、Natera、Ariosa是NIPT主要服务提供商。

7月28日,美国医学遗传和基因组学会(ACMG)发表最新声明:无创产前基因筛查(NIPS)能够在不同年龄人群中替代传统的三体综合征筛查技术。

在最新的立场申明中,ACMG建议:

  1. 应该告知所有孕妇,对于21、18、13三体综合征产前筛查来说,NIPS是目前最敏感的检测技术手段,没有之一;
  2. 肥胖孕妇外周血中的胎儿浓度通常较低,因此ACMG建议肥胖孕妇直接使用传统筛查方法,而不是NIPS;
  3. 对于性染色体非整倍体检测,医生应该在检测之前充分告知孕妇NIPS检测范围会扩大至性染色体,并且性染色体异常结果的假阳性相对较高。同时,在没有临床医师的指导下,第三方检测服务提供商不能直接向受检者提供胎儿性别鉴定结果;
  4. 对于已知拷贝数变异(CNVs),医生应该在检测之前充分告知孕妇NIPS检测范围会扩大至CNVs,并且CNVs检测结果具有较高的假阳性和假阴性。如果NIPS发现了CNVs,应该进行产前诊断验证;
  5. 对于双胎/多胎检测,医疗机构应该咨询检测服务提供商是否提供相应的检测,以及检测准确性等情况;

ACMG建议美国所有的医疗机构:

  1. 为NIPS结果为阳性的患者提供产前诊断和专业的遗传专家指导;
  2. 为产前诊断结果仍然为阳性的患者提供准确、及时、全面的检测结果信息;
  3. 提前与孕妇交流,检测过程中可能会发现一些反映孕妇健康的基因组异常情况(微缺失/重复、平衡、异位等),确定孕妇是否希望知道这些信息;
  4. 在产前筛查之前告知孕妇,产前诊断也能够直接检测染色体异常和CNVs。孕妇应该有选择检测方法的权利;

ACMG建议第三方检验服务提供商:

  1. 在所有宣传材料、报告里标注检出率、特异性、阳性预测值和阴性预测值;如果第三方检验服务提供商不能提供这4组数据,则不应该提供检测服务;
  2. 所有的检测报告都应该标注胎儿cfDNA浓度;
  3. 如果检测失败,应该详细说明失败原因;

ACMG暂时不建议:

  1. NIPS筛查21、18、13染色体以外的其他常染色体异常;
  2. NIPS筛查全基因组CNVs;
  3. 接受过骨髓移植、器官移植的患者使用NIPS服务;
  4. NIPS用于单基因疾病筛查;
  5. NIPS用于开放性神经管缺陷筛查;
  6. 对于由于胎儿游离DNA浓度过低导致的NIPS检测失败,ACMG建议使用产前诊断方法,而不建议再次重复抽血进行NIPS检测;

ACMG同时强调:NIPT仍然只是一项筛查技术,并非诊断技术。疑似阳性患者仍然需要通过羊水穿刺或绒毛绒膜取样等方法进行临床诊断。

ACMG是美国24个主要医学类学会之一,也是美国唯一一个以遗传和基因组学为专长的国家级医学学会。因此,ACMG的立场申明对基因检测产品在全美的临床应用具有极大的指导意义。ACMG每年会对各类临床基因技术阐述立场。近几年来,ACMG已经对个人基因检测、临床基因和基因组服务、无创产前基因检测等临床应用发表了立场声明。

在综合过去3年无创产前检测技术的快速发展和临床应用成果的基础上,ACMG决定发布这一最新立场声明取代2013年的立场。

 

作者:王小乐

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