Ten years of experience in molecular prenatal diagnosis and carrier testing for spinal muscular atrophy among families from Serbia
| Autor: | Marija Guc-Scekic, Slavica Ostojic, Tanja Lalic, Danijela Radivojevic, Sanja Cirkovic, Marijana Miskovic |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Genetic counseling Prenatal diagnosis SMN1 Carrier testing Spinal Muscular Atrophies of Childhood 03 medical and health sciences Pregnancy Prenatal Diagnosis medicine Humans Multiplex ligation-dependent probe amplification 030304 developmental biology Retrospective Studies 0303 health sciences business.industry Genetic Carrier Screening 030305 genetics & heredity Obstetrics and Gynecology General Medicine Spinal muscular atrophy SMA medicine.disease Survival of Motor Neuron 1 Protein 3. Good health Surgery Molecular Diagnostic Techniques Female Restriction fragment length polymorphism business Serbia |
| Zdroj: | International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics. 124(1) |
| ISSN: | 1879-3479 |
| Popis: | Objective To describe 10 years of experience of prenatal analysis of spinal muscular atrophy (SMA). Methods Data were retrospectively evaluated from prenatal analysis and carrier screening among parents and close relatives between January 2003 and December 2012. Screening was done before the parents were offered prenatal diagnosis. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to detect the most frequent homozygous deletions in the SMN1 gene in fetal samples. A commercial MLPA kit (SALSA P060) was used to analyze SMN1 copy number for carrier status determination among healthy individuals. Bayesian calculation was used to accurately assess the risk of having a child affected with SMA. Results During the study period, 66 fetal samples from 44 Serbian families were analyzed, and 13 (19.7%) showed a homozygous deletion in the SMN1 gene. Among 28 healthy individuals, carrier status was confirmed for 16 (57.1%). For 7 couples, quantitative analyses and Bayesian calculation reduced the final risk of having a child with SMA from 1 in 200 to 1 in 2448. Conclusion Owing to disease severity and lack of a curative treatment, prenatal diagnosis of SMA is the best way to prevent recurrence. Carrier detection allows accurate risk assessment and appropriate genetic counseling for all family members. |
| Databáze: | OpenAIRE |
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