Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single-center study
Automation has been introduced into variant interpretation, but it is not known how automated variant interpretation performs on a stand- alone basis. The purpose of this study was to evaluate a fully automated computerized approach.
The association of HBB-related significant hemoglobinopathies and low fetal fraction on noninvasive prenatal screening for fetal aneuploidy
HBB-related significant hemoglobinopathies have been anecdotally associated with low fetal fraction on noninvasive prenatal screening (NIPS). We sought to compare the difference in fetal fraction using NIPS in women with HBB-related significant hemoglobinopathies (HSH) and women with normal hemoglobin.
Reproductive Carrier Screening Results With Maternal Health Implications During Pregnancy
Single gene (monogenic) disorders are a leading cause of morbidity and mortality in newborn and pediatric populations. In the North American population, the incidence of monogenic heritable disease is at least 3.6 of 1,000 births.1,2 Offering prepregnancy or prenatal carrier screening for monogenic disorders with moderate to severe phenotypes