METHOD FOR PRECONCEPTION PREDICTION OF RISK OF SEPTAL CONGENITAL HEART DEFECTS FORMATION IN FETUS Russian patent published in 2017 - IPC G01N33/53 

FIELD: medicine.

SUBSTANCE: method includes molecular and genetic testing of couples, planning a pregnancy, prior to gestation, with identification of the female allele HLA-DRB1*03, HLA-DRB1*12 and male genotype HLA-DRB1*01.04. Possible prediction of a congenital defect is calculated by the formula

where Y is the probability of the risk of septal congenital heart disease forms formation in subsequent generations (%); X₁ is the female allele HLA-DRB1*03, wherein X₁ has the value of 0 in the absence of the allele in the genotype, X₁=1 in the presence of HLA-DRB1*03 allele in the heterozygote, and X₁=2 in the presence of HLA-DRB1*03 allele in the homozygote; X₂ is the male genotype HLA-DRB1*01.04, X₂=0 in the absence of the given genotype, X₂=1 in the presence of HLA-DRB1*01.04 genotype; X₃ is the female allele HLA-DRB1*12, respectively, X₃=0 in the absence of the allele in the genotype, X₃=1 in the presence of HLA-DRB1*12 allele in the heterozygote, and X₃=2 in the presence of HLA-DRB1*12 allele in the homozygote.

EFFECT: increased efficiency and reliability of prediction of septal congenital heart defects formation in the fetus during the subsequent pregnancy.

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