不可否认,婴儿基因检测仍存在一些伦理道德上的问题。但基因检测作为 新兴生物技术,的的确确能给父母一些关于孩子的关键信息。如果使用基因检 测来提前确定孩子的病情,并通过现代医学早期干预,也许就能避免-个病婴 的诞生。就此而言,婴儿基因检测还是有其可取之处 Newbom infant in the NICU with one of thefollowing conditions lacking medical explanation(high risk of short-term mor disease of unknown pathogenesis, especially in case of poor Severe congenital malformations that are not consistent with any known syndrome logical signs Severe, nonspecific and undifferentiated conditions at birth Other unexplained or undear acute conditions enetic counseling Non-geneticetiologies excluded? Clinical signs/ lab/imaging indicating known genetic conditions? 3 possible scenarios Based on pre-and peri-natal The phenotypic presentation of the disease is highly consistent with a known genetic oondition an explain the disease, and/or ndition; any t with the n exduded heterogeneous disease Rapid, specific tests available Arrays for CNVs followed Agenetic etiology is more ely in presence of pecific diagnostic Specific genetic and/or Arrays for CNVs Parental consanguinity and specific treatm non-genetic test followed by WES Extreme不可否认，婴儿基因检测仍存在一些伦理道德上的问题。但基因检测作为 新兴生物技术，的的确确能给父母一些关于孩子的关键信息。如果使用基因检 测来提前确定孩子的病情，并通过现代医学早期干预，也许就能避免一个病婴 的诞生。就此而言，婴儿基因检测还是有其可取之处