Couples who have both been identified as carriers of SMA have many reproductive options.
Ideally couples should be tested before they conceive, as this gives them the widest array of options. Specifically, couples identified as SMA carriers before they conceive may choose to:
- undergo in vitro fertilization (IVF) and have their embryos tested for SMA with preimplantation genetic diagnosis
- use donor sperm or donor eggs
- adopt a child
- not have a child or, if they are already parents, not have any additional children
Couples who are expecting when they learn they are both SMA carriers have options, as well. These are:
- continuing with the pregnancy and accepting a level of risk (a one in four chance that their child will have SMA), using this advance information to prepare emotionally and practically for a potentially affected baby
- undergoing prenatal diagnostic testing via chorionic villus sampling (CVS) or amniocentesis to determine if their fetus has SMA and, if so, to learn how severe it is likely to be (this is available only through Athena Diagnostics' SMA carrier test, which provides information on SMN2 copy number [link to genetics section]
- undergo prenatal diagnostic testing to determine if the fetus has SMA, continue with the pregnancy, plan and prepare for the birth of a child with SMA
- consideration of termination of the pregnancy is a personal choice that some individuals choose
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