How Does Testing for Spinal Muscular Atrophy During Pregnancy Work?

Spinal muscular atrophy (SMA) is a genetic condition that weakens muscles throughout the body. This makes it difficult to move, swallow, and in some cases breathe.

SMA is caused by a gene mutation that is passed from parents to children. If you’re pregnant and you or your partner has a family history of SMA, your doctor might encourage you to consider prenatal genetic testing.

Having genetic testing done during pregnancy can be stressful. Your doctor and a genetic counselor can help you understand your testing options so you can make decisions that are right for you.

When should you consider testing?

If you’re pregnant, you might decide to get prenatal testing for SMA if:

  • you or your partner has a family history of SMA
  • you or your partner is a known carrier of the SMA gene
  • early pregnancy screening tests show that your odds of having a baby with a genetic disease are higher than average

The decision about whether to get genetic testing is a personal one. You can decide not to get genetic testing done, even if SMA runs in your family.


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