Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study
| العنوان: | Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study |
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| المؤلفون: | Gemma Jenkins, Louise Christie, Carolyn Rogers, Bruce Bennetts, Jackie Boyle, Veronica Wiley, Michael Field, Bridget Wilcken, Tiffany Wotton |
| المصدر: | International Journal of Neonatal Screening, Vol 4, Iss 1, p 9 (2018) International Journal of Neonatal Screening; Volume 4; Issue 1; Pages: 9 International Journal of Neonatal Screening |
| بيانات النشر: | MDPI AG, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Fragile x, Concordance, Article, 03 medical and health sciences, Immunology and Microbiology (miscellaneous), Medicine, fragile X syndrome, Allele, Newborn screening, medicine.diagnostic_test, newborn screening, business.industry, lcsh:RJ1-570, Obstetrics and Gynecology, lcsh:Pediatrics, medicine.disease, Dried blood spot, Fragile X syndrome, 030104 developmental biology, Immunoassay, Pediatrics, Perinatology and Child Health, Primer (molecular biology), business |
| الوصف: | Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia. This paper aims to assess the feasibility and reliability of population screening for FXS using a pilot study in one hospital. A total of 1971 mothers consented for 2000 newborns to be tested using routine NBS dried blood spot samples. DNA was extracted and a modified PCR assay with a chimeric CGG primer was used to detect fragile X alleles in both males and females in the normal, premutation, and full mutation ranges. A routine PCR-based fragile X assay was run in parallel to validate the chimeric primer assay. Babies with CGG repeat number ≥59 were referred for family studies. One thousand nine hundred and ninety NBS samples had a CGG repeat number less than 55 (1986 < 50); 10 had premutation alleles >54 CGG repeats (1/123 females and 1/507 males). There was complete concordance between the two PCR-based assays. A recent review revealed no clinically identified cases in the cohort up to 5 years later. The cost per test was $AUD19. Fragile X status can be determined on routine NBS samples using the chimeric primer assay. However, whilst this assay may not be considered cost-effective for population screening, it could be considered as a second-tier assay to a developed immunoassay for fragile X mental retardation protein (FMRP). |
| وصف الملف: | application/pdf |
| تدمد: | 2409-515X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ac6aff5044a47c436bb2f3b6ffc2104 https://doi.org/10.3390/ijns4010009 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....4ac6aff5044a47c436bb2f3b6ffc2104 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 2409515X |
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