Carrier screening—which looks at potential parents’ DNA to determine whether or not it contains mutations that can cause a number of genetic disorders that could be passed on in future children—is available for anyone trying to conceive, says Piraye Yurttas Beim, Ph.D., founder and CEO of Celmatix, a fertility technology company. She adds that conducting it prior to pregnancy to allow couples to consider the most complete range of reproductive options.
According to the American College of Obstetrician Gynecologists, all women who are thinking about becoming pregnant or who are already pregnant are offered carrier screening for cystic fibrosis, hemoglobinopathies, and spinal muscular atrophy. Tests for additional, specific conditions are available, as well. In the past, carrier screening was largely used to check ethnic populations at higher risk for certain conditions, such as Tay-Sachs disease, or those with a family history of certain disorders. Today, many women considering pregnancy are offered screening, including women not seeking fertility treatments to help them conceive, says Dr. Yurttas Beim.
If both members of the couple are carriers of a specific genetic disorder, they may choose to pursue IVF, even before trying to conceive naturally. When two parents carry the same mutation, it increases the chance that the baby will be born with that disease. Embryos created through IVF can be biopsied before implantation via a test known as preimplantation genetic testing (PGT) to identify and select ones that are disease-free.
PGT is only available to those who undergo IVF treatment. Women over age 35 or couples who are known to be carriers of a genetic disorder are more commonly recommended PGT; evidence is still accumulating on how helpful this might be for younger women, Dr. Yurttas Beim adds.
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Editors’ note: We use the terms “woman” and “female” in this article to refer to people with internal reproductive organs; however we understand that not everyone with internal reproductive organs identifies as a woman or a female. We use the terms “man” and “male” to refer to people with external reproductive organs; however we understand that not everyone with external reproductive organs identifies as a man or a male.