04.03.2013 - TA03054

Background
Chromosomal aneuploidy is a main cause of human prenatal and postnatal morbidity and mortality, and the most frequent genetic cause of mental retardation. Prenatal testing for trisomies is available to women of advanced maternal age, with ultrasound findings consistent with Down syndrome or with previous fetuses with chromosomal abnormalities. Currently, fetal genetic material is collected through procedures such as amniocentesis and chorionic villous sampling to enable the definitive diagnosis of fetal genetic diseases. These invasive procedures are associated with the risk of fetal loss.

Technology
The invention relates to non-invasive methods for determining the genetic status of a fetus. Chromosomal aberrations such as fetal aneuploidy, in particular Trisomy 21 (T21) or also known as Down syndrome (DS), may be diagnosed from mother`s blood via evaluation of differential expression of microRNAs (miRNAs).

Benefits

• Non-invasive method
• Analysis of miRNAs from mother`s blood -> no risk to the fetus
• Non-invasive testing poses little risk to pregnant women
• Standard blood draw
• Determination of aneuploidy
• Determination of different genetic conditions of the fetus

IP Rights
European Patent Applic. (01/2013)

Patent Owner
Charité Universitätsmedizin Berlin


Further information: PDF [87 KB]
Author: Dr. Janin Hofmann janin.hofmann@ipal.de

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