Patent ID: 10745754

Abstract:
Particular aspects of the invention confirm significant differences in methylation of cytosine bases in many loci throughout the genome in cases of congenital heart defect (CHD) compared to normal cases without CHD. Additional aspects provide novel methods for the prediction of congenital heart defects that can be applied to embryos, fetuses, newborns and different stages of postnatal life including childhood and any time in later postnatal life, is disclosed. The method is applicable not only to deoxyribonucleic acid (DNA) found in body fluids such as blood, urine, sputum, amniotic fluid and other tissues of affected individuals in pre- and post-natal life. Statistical techniques for estimating an individual's risk of having CHD by comparing the degree of methylation of specific cytosine loci throughout the DNA in an individual being tested and comparing this to the percentage of cytosine at sites in two populations of individuals: one with CHD and the other a reference population of normal cases without CHD, are described. Individual risk for having specific types of CHD or CHD overall can also be determined based on the invention.