发明名称 METHOD AND APPARATUS FOR DIAGNOSING FETAL CHROMOSOMAL ANEUPLOIDY USING GENOMIC SEQUENCING
摘要 <p>The present invention relates to a method for non-invasively diagnosing fetal abnormalities before childbirth. More specifically, the present invention relates to a method for diagnosing abnormalities sequentially by analyzing sequencing information about genomic DNA extracted from the blood of a mother to draw a parameter, and using the same to accurately test aneuploidy of the fetus. In the method of the present invention, analysis can be performed using a blood sample from a mother, so that the mother and the fetus are not damaged and analysis can be easily performed. Moreover, it has been confirmed that diagnosis can be quite accurately performed even with a small quantity of fetal chromosomes. Accordingly, the method of the present invention can be usefully applied as a method for preemptively diagnosing abnormalities caused by an abnormality in the number of fetal chromosomes before childbirth.</p>
申请公布号 KR20140108177(A) 申请公布日期 2014.09.05
申请号 KR20140024262 申请日期 2014.02.28
申请人 THERAGEN ETEX CO., LTD. 发明人 BHAK, JONG HWA;KIM, TAE HYUNG;KIM, JONG SOO;PARK, SIN GI
分类号 C12Q1/68 主分类号 C12Q1/68
代理机构 代理人
主权项
地址