新一代无创产前筛查技术NIPT2.0临床应用策略专家共识

Expert consensus on the clinical application strategy of NIPT2.0,a new-generation non-invasive prenatal screening technology

新一代无创产前筛查技术(NIPT2.0)是近年来基于高通量测序成功实现的对胎儿染色体非整倍体、微缺失/微重复综合征和显性单基因遗传病进行同步筛查的新型无创产前检测方法。NIPT2.0弥补了上一代无创产前筛查技术(NIPT和NIPT Plus)无法检测胎儿单基因遗传病、对部分染色体异常(尤其是13三体、性染色体异常和部分微缺失/微重复综合征)检测不够准确、阳性预测值较低的缺陷。如何合理、规范地应用NIPT2.0,最大限度地发挥其临床价值,已成为亟待明确的问题。鉴于此,中国妇幼保健协会生育保健分会组织专家对上述问题进行了充分的讨论,共同起草了本共识,对NIPT2.0的临床应用策略,包括适用范围、目标疾病、检测前咨询、临床应用路径、检测后遗传咨询和干预、质量控制、局限性等方面提出建议,供国内同行参考,以规范其应用,更好地为临床服务。

The new-generation non-invasive prenatal screening technology(NIPT2.0)is a new method successfully realized in recent years based on high-throughput sequencing to synchronously and accurately detect fetal chromosomal aneuploidies,microdeletion/microduplication syndromes and dominantly inherited monogenic disorders.NIPT2.0 can circumvent the shortcomings of previous non-invasive prenatal screening techniques(NIPT and NIPT Plus)including incapability to detect fetal monogenic disorders,insufficient accuracy of detection and low positive predictive values for certain chromosomal abnormalities(in particular trisomy 13,sex chromosomal abnormalities,and small-segment microdeletions and microduplication syndromes).How to apply NIPT2.0 reasonably and normatively to maximize its clinical value has become an issue which requires clarification.The Reproductive Health Branch of the Chinese Maternal and Child Health Care Association has organized experts to fully discuss and jointly drafted this consensus,which has put forwards suggestions over the clinical application strategy for NIPT2.0,including the scope of application,target disease,pre-test consultation,clinical application pathway,post-test genetic counseling and intervention,quality control and limitations,for the reference by peers,with a view to standardize its application and provide better clinical service.