Genetic counselling after carrier detection by newborn screening when one parent carries F508 and the other R117H
نویسندگان
چکیده
منابع مشابه
Genetic counselling after carrier detection by newborn screening when one parent carries DeltaF508 and the other R117H.
Newborn screening (NBS) for cystic fibrosis (CF) has been carried out in Victoria, Australia since 1989. The primary screen is immunoreactive trypsinogen (IRT) followed by DeltaF508 mutation analysis. As part of this process, carrier babies are detected and their parents are routinely offered carrier testing as part of their follow up. The DeltaF508 parent is identified and the other parent has...
متن کاملThe very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.
BACKGROUND Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability associated with certain mutations makes genetic counselling difficult, notably for R117H, whose disease phenotype varies from asymptomatic to classical CF. The high frequency of R117H observed in CF newborn screening has als...
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OBJECTIVE The purpose of this study was to measure the readability and user-friendliness (clarity, complexity, organization, appearance, and cultural appropriateness of materials) of parent education brochures on newborn screening. METHODS We studied English-language versions of the brochures that state newborn screening programs prepare and distribute. We obtained brochures from 48 states an...
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BACKGROUND This study investigates the breast and cervical screening status of women with moderate to severe learning disability and whether uptake could be improved by one to one counselling. METHODS An audit of screening uptake of women in contact with the National Health Service (NHS) learning disability service within the eligible age groups for breast and cervical screening before and af...
متن کاملDisorders of the carnitine cycle and detection by newborn screening.
Carnitine is necessary for transport of long-chain fatty acids into mitochondria, to enter the beta-oxidation cycle. Four carnitine cycle defects have been described. The carnitine transporter mediates carnitine transport across the plasma membrane. Symptoms include hypoketotic hypoglycaemia and cardiomyopathy. Some affected subjects are asymptomatic. Newborn screening detects very low levels o...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2003
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.88.10.886