Non-invasive prenatal testing of sickle cell disease

Overinfants are born with sickle cell diseaseSCDevery year world wideincluding at leastin the USPrenatal diagnosis by amniocentesis or chorionic villus sampling is availablebut high costinvasivenessand risk of miscarriage limit their useThis Phase I SBIR project will show feasibility of a noninvasive test for Sickle Cell Disease that is affordable and completely safe to useBy finding their child s SCD status before birthparents can opt for umbilical cord blood banking to save their child s stem cellsThese stem cells could be critical for access to future gene therapy SCD cures that are in clinical trials and will likely become approved in the nextyearsOur non invasive prenatal test uses the cell free DNA that a developing fetus sheds into the mother s bloodstreamBy taking peripheral blood sample from a pregnant womanour assay is able to determine the fetal genotype for sickle cell disease causing mutationsTo support this assaywe have developed innovative probes for sickle cell alleles that can measure allele fractions with coefficient of variation andltthrough the use of nextgeneration DNA sequencingThis project will demonstrate the feasibility of our approach for non invasive prenatal testing of sickle cell disease through the following specific aimsSpecific AimValidate optimized probes for HBB on cfDNA isolated from healthy SCT individualsSpecific AimIdentify the fetal HBB genotypee gHbASHbSCor HbSSfrom pregnant women who have SCDAimIdentify the fetal SCD genotypee gHbAAHbASHbSCor HbSSof pregnant women who have SCT This proposal aims to develop a non invasive prenatal test for sickle cell diseasewhich is the most common genetically inherited disorder in the worldPrenatal testing for sickle cell disease supports gene therapy cures by identifying when umbilical cord blood banking should be performedThis Phase I SBIR will demonstrate the feasibility of non invasive prenatal testing for sickle cell disease by performing the test on patients at high risk for having an affected child