遗传筛查

PGD适用于特殊遗传病的筛查，如囊性纤维化和神经节苷脂病，而且PGD也可以用于性别选择。

PGD is good for screening for specific genetic disorders such as cystic fibrosis and Tay-Sachs disease , and also can be used to select gender .

结论：ARMS法是用于检测β~T常见基因点突变的一项简单、可靠、经济的诊断方法，可用于指导高危人群的遗传咨询及携带者筛查；

Conclusion : ARMS is a simple , reliable and economic diagnosis technique for detecting popular β - thai locus mutation . It can be used to guidance , the inheritance consulting of the population at risk and filtrate the heterozygote of the β - thai ;

结论：在本地区建立新生儿遗传代谢病的筛查系统是必要的。沈阳地区PKU及持续性高Phe血症的发病率分别为1／13358、1／18216。

Results : Conclusions : The incidence was 1 / 13 358 for PKU , and 1 / 18 216 for persistent hyperphenylalaninemia in Shenyang . It is necessary to establish a screening system of neonatal hereditary metabolic diseases in this area .

江苏省响水县2002-2008年新生儿遗传代谢性疾病筛查情况调查分析

Newborn screening for inherited metabolic diseases in Xiangshui County , Jiangsu Province , 2002-2008

气相色谱/质谱对儿童先天遗传代谢病的筛查

The Screening of the Inherited Metabolic Diseases For the Children in Urine Using GC / MS

同时，也不可避免地涉及到遗传干预和干细胞技术（如遗传疾病的产前筛查、基因识别与鉴定、性别选择、干细胞培育）。

At the same time , it involves unavoidably hereditary intervening and stem cell technique ( such as prenatal examination for hereditary diseases , distinguishing and identifying for gene , sex selection and cultivating stem cell . )