A5077225888- Metabolism and Genetic Disorders
- Neonatal Health and Biochemistry
- Respiratory viral infections research
- Hemoglobinopathies and Related Disorders
- Immunodeficiency and Autoimmune Disorders
- Genomics and Rare Diseases
- Cystic Fibrosis Research Advances
- Sexual Differentiation and Disorders
- Health, Environment, Cognitive Aging
- Folate and B Vitamins Research
- Prenatal Screening and Diagnostics
- Metabolomics and Mass Spectrometry Studies
- Blood groups and transfusion
Association of Public Health Laboratories
2019-2020
Newborn screening (NBS) identifies infants at risk for congenital disorders which early intervention has been shown to improve outcomes (1). State public health programs are encouraged screen on the national Recommended Uniform Screening Panel (RUSP), increased from 29 in 2005 35 2018.* The RUSP includes hearing loss (HL) and critical heart defects, can be detected through point-of-care screening, 33 laboratory of dried blood spot (DBS) specimens. Numbers cases (32 DBS HL) reported by 50...
Background Newborn screening (NBS) aims to achieve early identification and treatment of affected infants prior onset symptoms. The timely completion each step (i.e., specimen collection, transport, testing, result reporting), is critical for diagnosis. Goals developed by the Secretary Health Human Services' Advisory Committee on Heritable Disorders in Newborns Children (ACHDNC) NBS timeliness were adopted (time-critical results reported five days life, non-time-critical day seven),...
Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth prevent permanent disability or death. Disorders on Health and Human Services Federal Advisory Committee's Recommended Uniform Screening Panel (RUSP) have been adopted by most state NBS programs; however, each mandates specific be screened implements their own system processes. Congenital adrenal hyperplasia (CAH) was added RUSP 2005,...