Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Published: June 2022
AI Article Synopsis
Article Abstract
Newborn screening (NBS) is a successful public health initiative that effectively identifies pre-symptomatic neonates so that treatment can be initiated before the onset of irreversible morbidity and mortality. Legislation passed in 2008 has supported a system of state screening programs, educational resources, and an evidence-based review process to add conditions to a recommended universal newborn screening panel (RUSP). The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, has promoted NBS research to advance legislative goals by supporting research that will uncover fundamental mechanisms of disease, develop treatments for NBS disorders, and promote pilot studies to test implementation of new conditions. NICHD's partnerships with other federal agencies have contributed to activities that support nominations of new conditions to the RUSP. The NIH's Newborn Sequencing In Genomic Medicine and Public Health (NSIGHT) initiative funded research projects that considered how genomic sequencing could be integrated into NBS and its ethical ramifications. Recently, the workshop, "Gene Targeted Therapies: Early Diagnosis and Equitable Delivery," has explored the possibility of expanding NBS to include genetic diagnosis and precision, gene-based therapies. Although hurdles remain to realize such a vision, broad engagement of multiple stakeholders is essential to advance genomic medicine within NBS.
This study aims to determine the factors associated with mortality and neurodevelopmental morbidity in patients with Maple Syrup Urine Disease (MSUD) seen at a tertiary hospital in the Philippines during a 10-year period. The medical records of patients diagnosed with MSUD seen at Philippine General Hospital (PGH) from 2010 to 2019 were reviewed. Socioeconomic, healthcare, and clinical factors were determined.
Background: Classic homocystinuria (HCU) is a rare inborn metabolic disease that is generally asymptomatic at birth. If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism. This study aimed to describe the natural history and the molecular findings of patients with HCU, and to assess the importance of early diagnosis.
Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism.
Background: Gestational diabetes mellitus in pregnancy is associated with polyhydramnios, macrosomia, and shoulder dystocia, and it also increases maternal and perinatal mortality.
Methods: This sequential explanatory mixed-method study was conducted for six months. All the pregnant women attending the outpatient department of the Obstetrics and Gynaecology Department at 24-28 weeks of gestation were subjected to universal screening with 75 gms of glucose and 2 hours of plasma glucose >140 mgs% is taken for diagnosis (according to DIPSI guidelines).
Background: The gold standard for assessing neonatal jaundice (NJ) is the serum total serum bilirubin (TSB) level by the diazo method. A transcutaneous bilirubinometer (TCB) provides a convenient, noninvasive readout within minutes. The reliability of TCB as the diagnostic tool and the proper site for TCB measurement remains unsettled.
