ABSTRACT
As Non-Invasive Fetal Genome Sequencing (NIFGS) becomes technically tractable and increasingly cost-effective, and as an acceptable false positive/false negative profile is achieved, one population for which it might be of great benefit may be pregnant women who are currently offered invasive prenatal diagnostic testing. Prenatal identification of disorders now found in neonatal screening would afford for earlier parental education, diminished false positives and the accompanying costs of retesting and parental anxiety and earlier therapeutic interventions. The availability of NIFGS could increase the utilization of prenatal testing, and in turn increase rates of elective termination, both for disorders for which testing is currently available and for the wide arrange of disorders and traits for which testing would be newly available. NIFGS will identify variants of ambiguous clinical utility in genes known to be associated with both pediatric and adult complex disease.
