METHOD FOR PREDICTION OF FETAL MONOGENIC GENETIC VARIATIONS USING MATERNAL SERUM DNA

摘要

The present invention provides a method for non-invasively detecting, expecting, or diagnosing fetal single nucleotide polymorphisms and the resultant monogenic disorders, through maternal cell-free DNA sequencing. The diagnosis method according to the present invention does not harm mothers or fetuses and is convenient, in that analysis is possible using maternal blood samples; and can be favorably used for a prenatal diagnosis method capable of determining at an early stage whether single nucleotide polymorphisms causing monogenic disorders occur or not.