Unlabelled: ntroduction: Nigeria like many African countries has tried to start the newborn screening for congenital hypothyroidism and many failed. Since sickle cell disease is more common in Nigeria, the hypothesis is that incorporating it into a screening programme for congenital hypothyroidism will improve the uptake of the programme by parents and government.
Methods: Different aspects of newborn screening with difficulties and challenges in running newborn screening were identified and discussed.
Result: Identifying that for newborn screening to be successful, several key factors have to be put in place including but not limited to organizational structure, system thinking, finance, legislative and political will. A proper recall system for test positives and diagnostic/confirmatory test must be put in place before the programme starts. Since several other screening programmes like sickle cell disease, cervical and breast cancer have run successfully in Nigeria, incorporating one of them into the newborn screening for CH can make the programme succeed as there will be better uptake by the population and the policy makers.
Conclusion: The difficulty in establishing a newborn screening programme in Nigeria stem from health care financing, organizing the programme from screening through to recall and treatment, and ultimately, prevention of diseases.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6776226 | PMC |
http://dx.doi.org/10.23750/abm.v90i2.8485 | DOI Listing |
Radiol Case Rep
March 2025
Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, N12E3, Higashi-Ku, Sapporo, Hokkaido, 060-0012, Japan.
Fetal cardiac tumors are often the first clinical manifestation of tuberous sclerosis (TS) when fetal ultrasound screening is performed. TS is an autosomal dominant disorder caused by the mutations in or genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who underwent a genetic analysis for TS after birth.
View Article and Find Full Text PDFKidney Int Rep
January 2025
Division of Pediatric Nephrology, Rosenheim Hospital, Germany.
Introduction: Newborn screening (NBS) programs for a defined set of eligible diseases have been enormously successful, but genomic NBS allowing for detection of additional treatable disorders has not been broadly implemented. All 3 types of primary hyperoxaluria (PH1-3) are rare autosomal recessive diseases caused by distinct defects of glyoxylate metabolism that are diagnosed genetically with certainty. Early diagnosis and treatment are mandatory to avoid renal failure or sequalae associated with persistent hyperoxaluria.
View Article and Find Full Text PDFNeurol Genet
February 2025
University of Pittsburgh, UPMC Children's Hospital of Pittsburgh, PA.
Over 300 million people globally are affected by rare diseases, many of which present predominantly with neurologic symptoms. Rare neurologic disorders pose significant diagnostic and therapeutic challenges including delayed diagnoses, limited treatment options, and a shortage of specialists. However, advancements in diagnostics, particularly next-generation sequencing and expansion of newborn screening, have significantly shortened the time to diagnosis for many of these disorders.
View Article and Find Full Text PDFBackground: Alloantibodies for the Rh blood group are the most immunogenic antibodies found in the Chinese population, typically causing acute or delayed hemolytic transfusion reactions and fetal and neonatal hemolytic diseases. Autoantibodies are generally considered nonspecific, and approximately 50% of warm antibodies are secondary to a variety of diseases, especially hematologic tumors. In this case report, a rare autoantibody that mimics anti-C and anti-e specificity was identified.
View Article and Find Full Text PDFFertil Steril
January 2025
Department of Health Behavior and Biological Sciences, School of Nursing, University of Michigan, Ann Arbor, Michigan.
Objective: To expand knowledge on physical outcomes and psychosocial experiences of oocyte donors after donation across 3 age cohorts.
Design: Cross-sectional mixed-methods survey.
Patients: A total of 363 participants (ages: 22-71 years, M = 38.
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