PREVENTION of SMA
- There is a 25% risk that each offspring of two carrier parents is affected with the autosomal recessive inherited forms of spinal muscular atrophy (SMA).
- Genetic testing can be done prenatally by amniocentesis and chorionic villus sampling to look for SMN gene deletions (prenatal genetic diagnosis).
- Parents can then make their personal decision if the fetus is affected.
- IVF and pre-implantation genetic diagnosis can also be carried out if families have had a previous child affected by SMA. Embryos are tested to see if they are affected by SMA and unaffected embryos can be transferred to the uterus. Chorionic villus sampling may then be used later in the pregnancy to confirm that the growing fetus is unaffected.
- Research has shown that noninvasive analysis through testing of circulating fetal cells in the mother's blood may also be possible in the future.18