MCAD

GRAND RAPIDS, Mich., Sept. 15, 2021 /PRNewswire/ -- NxGen MDX is taking an innovative approach to genetic carrier screening panel design by creating the Early Advantage Panel. This panel is the first of its size to fully incorporate screening recommendations from the U.S. Department of Health and Human Services (HHS). By including conditions recommended by HHS for newborn screening (NBS), we are reiterating our focus on improving pregnancy and newborn health outcomes for families everywhere. September is Newborn Screening Awareness Month; each year, an estimated 4 million babies are reached by Newborn Screening (NBS) programs. While NBS is one of the most successful healthcare programs in the nation, it does have some limitations. The number of conditions screened is inconsistent from state to state with only 10 states screening for all HHS recommended conditions. Also, factors like birth weight, gestational age, ethnicity, and time of sample collection can lead to higher failure rates1,2. In contrast, NxGen's carrier screening is not dependent on geographical location, timing, or any characteristics of the infant, which allows for more equitable care. Symptoms of some genetic conditions can occur before NBS results are available, as many of the conditions recommended for universal screening can affect a baby's health in the first hours or days of life. For example, up to 24% of babies with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) will show symptoms before NBS results are back3,4. Screening identifies at-risk infants and allows parents and doctors to implement appropriate intervention before an acute episode can take place. "Carrier screening can give parents time to prepare for these genetic conditions before their baby is born. NxGen designed this panel to provide early, accurate results that can help enable expedited diagnostic testing to inform treatment options, prevent long-lasting health issues, and potentially save a baby's life," said Jacqueline Peacock, PhD, Director of Laboratory Operations at NxGen. The Early Advantage Panel complements the NBS program by identifying at-risk couples before or during pregnancy, providing parents with a superior test, better reproductive options, and more timely information to manage their pregnancy and childbirth than relying on NBS alone. "NxGen follows a philosophy called NatalCare for all our products. NatalCare focuses on improving pregnancy and newborn outcomes. We believe that giving patients and providers vital information early on will allow them to make better healthcare decisions," says NxGen CEO, Alan Mack. Our NatalCare philosophy and commitment to best-in-class carrier screening provide parents with actionable information they can use to address genetic health issues their child may face immediately after birth with the potential to save lives. That is the early advantage. About NxGen MDx NxGen MDx, LLC is a leading healthcare company delivering comprehensive genetic testing. NxGen MDx's history of next-generation sequencing combined with advanced technology allows us to provide accessible, high-quality testing options to families as they plan for the future. 1. Slaughter, J.L., Meinzen-Derr, J., Rose, S.R., Leslie, N.D., Chandrasekar, R., Linard, S.M., and Akinbi, H.T. (2010). The Effects of Gestational Age and Birth Weight on False-Positive Newborn-Screening Rates. Pediatrics 126, 910–916. 2. Peng, G., Tang, Y., Cowan, T.M., Zhao, H., and Scharfe, C. (2021). Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance. Front. Pediatr. 8, 623184. 3. Ahrens-Nicklas RC, Pyle LC, Ficicioglu C. Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency. Genet Med. 2016 Dec;18(12):1315-1319. 4. Hsu HW. et al. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. Pediatrics. 2008 May;121(5):e1108-14. doi: 10.1542/ peds.2007-1993. PMID: 18450854.