Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide
نویسندگان
چکیده
منابع مشابه
Results of Screening for Neonatal Metabolic Diseases in Mashhad City, Iran (2015)
Background: Neonatal screening is a preventive medical measure to screen infants shortly after birth for treatable metabolic disorders and endocrinopathies. The present study aimed to evaluate and compare the accuracy of laboratory samples in the screening programs for metabolic diseases in Mashhad city, Iran with international guidelines.Methods: This observational study was conducted on all t...
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the risk of sickle cell complications that is a common hemoglobin disorder in Southwest Iran. This study aimed at determining the incidence of Sickle Cell Disease (SCD) and other Hemoglobinopathies in newborn being at risk based on ethnic origin. Materials and Methods: In this descriptive epidemiologic study, between September 2013 and September 2015, 8363 newborn blood samples were test...
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Inherited metabolic diseases are rare but may cause severe damages if not cared for in time. A neonatal screening program, including a first quick test to all newborns and a second accurate test for patients with positive results, is being planned in Veneto region, northeast Italy. A simulation model describing all operations has been built and implemented with the scope of giving suitable dime...
متن کاملNeonatal screening for phenylketonuria.
The case histories are reported of three patients with phenylketonuria (PKU) in whom the initial Guthrie screening for PKU was falsely negative. Possible explanations for this problem are reviewed, as well as the limited cost-effectiveness of general re-testing. Guidelines are suggested to im prove the sensitivity of PKU screening procedures for newborns.
متن کاملCarrier Screening for Genetic Conditions
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. Carrier screening and counseling ideally should be performed before pregnancy beca...
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ژورنال
عنوان ژورنال: Journal of Community Genetics
سال: 2020
ISSN: 1868-310X,1868-6001
DOI: 10.1007/s12687-020-00488-y