By Anthony R. Gregg MD, Joe Leigh Simpson MD
Genetic Screening and Counseling is reviewed during this factor of Obstetrics and Gynecology Clinics, visitor edited through Drs. Anthony R. Gregg and Joe Leigh Simpson. gurus within the box have come jointly to pen articles on modern Genetics Counseling: New Frontiers and demanding situations, infant Screening, SMA provider Screening, Fragile X, Ashkenazi Jewish Screening within the twenty first Century, Thrombophilia in Obstetric perform, Microarrays within the perform of Obstetrics and Gynecology, melanoma Genetic Screening, and Cystic Fibrosis.
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Extra resources for Genetic Screening and Counseling, An Issue of Obstetrics and Gynecology Clinics (The Clinics: Internal Medicine)
Neuromuscul Disord 1992;2:423–8. 4. Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy: clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995;52:518–23. 5. Meldrum C, Scott C, Swoboda KJ. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents perspective. J Child Neurol 2007;22: 1019–26. 6. Feldkotter M, Schwarzer V, Wirth R, et al. Quantitative analysis of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
Many cases are mild or asymptomatic, and approximately half do not present until the age of 45 years. 16 Screening is based on the 4 most common mutations and detects approximately 95% of carriers. 42 However, there can be very significant morbidity associated with GD, including bone fractures in young people. Furthermore, therapy is available but can be associated with significant cost. 17 CURRENT RECOMMENDATIONS Ideally, screening should occur before conception. A general description of the disorders should be provided.
Spinal muscular atrophy genetic counseling access and genetic knowledge: parents perspective. J Child Neurol 2007;22: 1019–26. 6. Feldkotter M, Schwarzer V, Wirth R, et al. Quantitative analysis of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002;70: 358–68. 7. Alias L, Bernal S, Fuentes-Prior P, et al. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.