Abstract: Particular aspects of the invention are methods for assaying metabolite levels in samples from a patient during pregnancy using nuclear magnetic resonance and direct flow injection mass spectrometry. In various methods, the assayed metabolites may be acylcarnitine or one or more of C3-OH (hydroxypropionylcarnitine), C5-OH (C3DC), C10, C5:1-DC (glutaconylcarnitine), C14:1-OH (hydroxytetradecenoylcarnitine) and C14:2-OH. One or more methods also may include measuring nuchal translucency of the fetus. Other methods relate to predicting fetal congenital heart defects in a fetus.

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.

Abstract: The present disclosure describes significant methylation changes in multiple genes and multiple metabolites in body fluid in response to TBI. Gene pathways affected included several known to be involved in neurological and brain function. A large number of good to excellent biomarkers for the detection of TBI was identified. The combination of epigenomic, clinical and metabolomic markers in different combinations overall were highly accurate for the detection of pediatric concussion using Artificial Intelligence-based techniques.

Abstract: The present disclosure describes significant differences in methylation of cytosine bases in many loci throughout the genome in cases of cerebral palsy (CP) compared to unaffected cases (without CP). The present disclosure also describes novel methods for the prediction of CP that can be applied to embryos, fetuses, newborns, and different stages of postnatal life including childhood and any time in later postnatal life. The method is applicable to deoxyribonucleic acid (DNA) found in body fluids of CP subjects. Statistical techniques for estimating a subject's risk of having CP include comparing the degree of methylation of specific cytosine loci throughout the DNA in a subject being tested and comparing this to the percentage of cytosine at said sites in populations of individuals: with CP and/or a reference population of normal cases without CP. Risk for having specific types of CP or CP overall can also be determined based.

Abstract: Systems and methods to predict or diagnose autism are described. Using markers, the systems and methods can predict or diagnose autism based on significant differences in methylation of cytosine bases in many loci throughout the genome. Therapeutic interventions can then be initiated at an earlier time in development, decreasing severity of the disorder.

Abstract: Particular aspects of the invention are methods for assaying metabolite levels in samples from a patient during pregnancy using nuclear magnetic resonance and direct flow injection mass spectrometry. In various methods, the assayed metabolites may be acylcarnitine or one or more of C3-OH (hydroxypropionylcarnitine), C5-OH (C3DC), C10, C5:1-DC (glutaconylcarnitine), C14:1-OH (hydroxytetradecenoylcarnitine) and C14:2-OH. One or more methods also may include measuring nuchal translucency of the fetus. Other methods relate to predicting fetal congenital heart defects in a fetus.