O-27: Preimplantation Genetic Diagnosis in Prevention of Genetic Diseases -Diagnostic of Spinal Muscular Atrophy (SMA)
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Abstract:
Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (Werding-Hoffman Disease) is the most severe form. Around 98% of clinical cases of SMA are caused by the homozygous absence of a region of exons 7 and 8 of the telomeric copy of the SMN gene (SMN1) on chromosome 5 (5q13.3). We performed PGD for SMA in 5 couples who had already given birth to a child affected with SMA. Materials and Methods: All patients underwent standard IVF procedures associated with intracytoplasmic sperm injection. 6-8 cell embryos were biopsied on day 3 of culture. Single cell nested PCR-RFLP protocol for PGD of SMA was used for detection of mutation. Results: In course of IVF-PGD procedures all patients were performed transfer of embryos without SMN1 deletions. Four of five couples delivered healthy babies. Conclusion: Preimplantation genetic diagnosis (PGD) of monogenic disorders is very efficient method, especially for patients when a previous child is homozygous for genetic disorders. It opens a new horizons of treatment for genetic disease carriers.
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volume 5 issue Supplement Issue
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publication date 2011-09-01
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