Stoler Joan M
Pediatr Ann. 2017 Nov 1;46(11):e423-e427. doi: 10.3928/19382359-20171023-01.
There have been major advances in genetic testing especially over the last 10 years. We have advanced from looking at simple chromosomes under a microscope to more sophisticated analysis of the DNA makeup of chromosomes and from testing a single gene to sequencing almost all of our genetic material. Similarly, in the field of prenatal testing we have made great strides in screening and diagnostic testing in the hope of detecting significant abnormalities in the fetus while decreasing the risk to the pregnancy. In this article the major types of genetic screening and diagnostic testing, both prenatal and postnatal, will be reviewed. [Pediatr Ann. 2017;46(11):e423-e427.].
尤其是在过去十年中，基因检测取得了重大进展。我们已经从在显微镜下观察简单的染色体发展到对染色体的DNA组成进行更复杂的分析，从检测单个基因发展到对几乎所有遗传物质进行测序。同样，在产前检测领域，我们在筛查和诊断检测方面也取得了长足进步，希望能在降低对妊娠风险的同时检测出胎儿的重大异常。本文将对产前和产后基因筛查及诊断检测的主要类型进行综述。[《儿科年鉴》。2017年；46(11):e423 - e427。]
