PreSeek™ screens for various clinically significant and life-altering genetic disorders that are not screened for with current NIPT technology. Disorders screened by this innovative test often occur in the absence of a family history of the condition. The screen, developed by the genomic experts at Baylor Genetics in conjunction with Baylor College of Medicine, assesses fetal DNA for pathogenic and likely pathogenic variants in 30 genes. PreSeek™ is the next step in the evolution of screening for genetic disorders during pregnancy, providing information that can affect medical decisions, preparation, and peace of mind for families and physicians. Simply put, PreSeek™ is the most comprehensive single gene cell-free fetal DNA screen available.

Many disorders in PreSeek™ are not typically associated with abnormal prenatal ultrasound findings (especially in the first trimester), or may not be evident until late second/third trimester or after delivery. Although the occurrence of each disorder is relatively rare, the cumulative rate of occurrence of these conditions is similar to that of Down Syndrome. Knowing whether or not a baby has one of these significant, and often devastating, genetic disorders can allow for healthcare providers and families to form a plan of care including, but not limited to, genetic counseling, specialist referrals, confirmatory studies, and delivery care. The difference in detecting a significant genetic disorder in the first/second trimester versus late in pregnancy, or in the neonatal period, can be of immeasurable benefit to healthcare providers and families.