Family Planning Options for Parents of a Child with SMA
Dr. Charlotte Sumner describes family planning options for parents who have a child with SMA.
Now when parents have had a child before with SMA, of course now generally they know that they're at risk for the -- that their child might be at risk for the disorder and they may of course have genetic testing to confirm that they're indeed carriers and may have questions about what options they have when trying to conceive again. increasingly now women and their partners are being offered prenatal genetic testing to see if in fact they're carriers. Now this varies across the country quite a bit, and of course as that becomes more common parents will be facing these decisions about how they want handle that information and what they want to do about that information. Of course, some parents may decide that they donâ€™t want to pursue any aggressive prenatal genetic testing for example and that's a perfectly reasonable strategy. Other parents may decide that they want to avoid having another child with SMA but do want to have another child. In their situation, one possibility to consider is what we call pre-implantation genetic diagnosis. So this occurs during the process of in vitro fertilization. What we can do as geneticists once embryos have formed in a dish as the egg and the sperm combines, we can genetically test each of those embryos and see if in fact an embryo in a dish is expressing SMA, it has the genetics that would be compatible with a diagnosis of SMA. In that case of course, we can avoid implanting those embryos that would genetically test positive for SMA and implant only those that donâ€™t.
Spinal muscular atrophy, SMA, RNA, mRNA, splicing, gene, genetic, DNA, antisense, motor neuron, splice, Family planning, IVF, PGD, in vitro fertilization, preimplantation genetic diagnosis, adoption, screening, prenatal, risk, carrier, recessive, embryo, informed decision, Hopkins, john Hopkins,
- ID: 16928
- Source: DNALC.SMA
- Download: MPEG 4 Video
Dr. Sumner describes how SMA is inherited.
An animation introduces DNA and the pattern of inheritance for SMA.
An animation shows how antisense oligonucleotide therapy for SMA utilizes RNA splicing.
An animation shows alternate splicing of the SMN2 gene.
Drs. Sharp and Sumner describe how RNA splicing can be used as a therapy for SMA.
Dr. Sumner explains what causes SMA.
Dr. Sumner describes small molecule therapies for SMA.
An animation shows how drugs for SMA may be delivered via infusion into the spinal cord.
Dr. De Vivo provides an overview of SMA, and describes the four SMA types.
Dr. Sumner describes how early intervention is crucial when treating SMA.