Getting Pregnant

Should You Consider Genetic Testing?

Genetic testing, also commonly referred to as “carrier screening,” is something to consider doing with your partner before TTC, because it can help determine your odds of possibly having a child with genetic disorders.

If both parents are identified as carriers of a certain disorder, it may be beneficial to consider some options before deciding to conceive. Carriers are individuals who do not have any symptoms of a condition, but can still pass along the gene for it to his or her child.

While carrier screening can be conducted during pregnancy, having it done before TTC affords you more time and a greater range of options for making decisions about your pregnancy.

A genetic counselor has the strongest ability to help you make the decision about whether or not you and your partner should pursue genetic testing. If you’re beginning your journey in trying to get pregnant and you’re unsure of whether you should consult a genetic counselor, here are a few things to consider.

  • If you or your partner has a genetic disorder, it’s a wise idea to consult a genetic counselor. He or she will be able to perform carrier screening which will assess your likelihood of passing on the disorder to your child.
  • Parents who already have one child with a genetic disorder may also want to consider genetic testing before trying to become pregnant again to determine the odds of passing the same health issue along to a second child.
  • If you or your partner comes from a family with a history of a genetic disorder, it’s also a good idea to meet with a genetic counselor to discuss your options.
  • If either parent was adopted and therefore does not have access to the birth parents’ family health history, it may be a good idea to consider carrier screening.
  • Finally, certain ethnic groups have higher risks of some genetic disorders. For instance, non-Hispanic white individuals may be more likely to carry the cystic fibrosis gene. Ashkenazi Jews, or those from Eastern European Jewish descent, are known for having a higher concentration of carriers for cystic fibrosis, Tay-Sachs disease, Canavan disease, and familial dysautonomia. Individuals of Southeast Asian, Mediterranean, and African heritage may have a greater risk of passing along genes for sickle cell disease and thalassemias.

One important fact to note is that the aforementioned conditions are recessive diseases, meaning that a child must inherit a gene from each parent in order to develop the disease. There are many other recessive disorders not listed above, but testing is generally not performed for those conditions either because it is not yet available or the disorders are very rare.

Keep in mind that it’s possible to be a carrier and have the disease “trait” but display no symptoms of the disease. It’s common for a recessive gene to be passed down through a family’s lineage without showing any signs, since both parents have to be carriers in order to pass it down. If both parents happen to be carriers the odds of having a baby with that disease would be 25%.   [avafootnote]

Sharee Loeffler

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