METHOD AND DEVICE FOR DETERMINING FETAL NUCLEIC ACID CONCENTRATION IN BLOOD OF PREGNANT WOMAN

摘要

Provided are a method and a device for determining a fetal nucleic acid concentration in maternal blood. The method includes: (1) determining first genotype information based on alignment between sequencing data and at least a part of a reference genome, the sequencing data being derived from a nucleic acid sample of the maternal blood; (2) correcting the first genotype information based on reference data by using a linkage disequilibrium relationship, to obtain second genotype information; and (3) determining the fetal nucleic acid concentration based on a difference between the first genotype information and the second genotype information.