FIELD: medicine.
SUBSTANCE: invention relates to medicine. What is presented is a method for non-invasive prenatal screening of fetal aneuploidy by mass parallel sequencing using semiconductor technology. Extracellular DNA is recovered from plasma of a pregnant woman, and full-genomic libraries are created using extracellular DNA. Fetal fraction is counted. Method of linear regression involves calculating the Z-metric of the sample by using normalized readings for the forward and reverse DNA strands of each chromosome. Sample is classified as either not different from the norm, or as a carrier of monosomy or trisomy on the given chromosome.
EFFECT: invention provides an accurate method of non-invasive prenatal screening of fetal aneuploidy.
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