Should I Consider Preconception Genetic Testing?

If you’ve decided to start a family, you’re probably already thinking about ways you can improve your well-being to increase your chances of having a normal pregnancy and a healthy newborn.

This may include making certain lifestyle changes or taking steps to achieve a healthier body weight before conception. It may also include getting up-to-date on your immunizations, taking prenatal vitamins, or reviewing any medications you take to ensure they won’t affect your ability to get pregnant or inadvertently cause birth defects.

You may also be concerned about the possibility of passing on genetic-related birth defects. If you or your partner has a genetic disorder or a family history of inherited illness, you may want to consider undergoing preconception genetic testing, also known as carrier screening.

Preconception genetic testing gives you a glimpse of you and your partner’s genetic makeup to assess your overall risk of having a child with a genetic disorder. Here’s what you need to know to determine if it’s right for your family.

Genetic testing basics

Opting to have genetic testing before you become pregnant gives you an opportunity to find out whether you or your partner carry any recessive genes for certain inherited disorders.

You can be a carrier for a genetic illness if you have just one gene for the disorder. Because carriers don’t actually have an inherited illness, they usually don’t know they have a gene for the disorder that can be passed on to their children.

In most cases, it takes two genes for a child to have an inherited disorder — one from the mother and one from the father.

If both you and your partner carry a recessive gene for a specific disorder, there’s a one in four chance that your children will receive the gene from each of you and be born with the disorder. There’s a one in two chance that your children will simply be carriers of the disorder, just like you and your partner.

If only one of you is a carrier, there’s still a one in two chance that your children will also be carriers, but there’s no chance they’ll have the disorder.

Primary reasons to consider genetic testing

Birth defects are somewhat common, affecting approximately 3% of all babies — or one out of every 33 newborns — in the United States each year. Although most babies with birth defects are born to parents who don’t have any known risk factors, parents with certain known risk factors do have an increased chance of passing on an inherited disorder.

You should consider preconception genetic testing if either you or your partner have a family or personal medical history of genetic disorders, because having a known history is the most significant risk factor.

You may also want to consider having targeted testing if you or your partner belong to any of the ethnic groups that are prone to certain inherited diseases. African Americans are more likely to carry the recessive genes for sickle cell anemia, for example, while Caucasian people of Northern European descent are more likely be carriers of cystic fibrosis.

If you or your partner is of Ashkenazi Eastern European Jewish descent, preconception genetic testing will check whether either of you are carriers for cystic fibrosis, Tay-Sachs disease, Bloom syndrome, Canavan disease, and Gaucher disease, among others.

Other reasons to consider genetic testing

You and your partner may want to consider genetic testing before conceiving if either one of you don’t know your family history, as is often the case when adoption is involved. Genetic testing can also be a valuable risk assessment tool for couples who already have one child with a birth defect or genetic disorder.

Usually, the partner who’s most likely to be a carrier is tested first; if results are negative, no further tests are generally required. If tests show that the first partner is a carrier, the other partner is also tested to reveal a more complete risk profile.   

If you and your partner both test positive for the same recessive gene, the team at Rodeo Drive Women’s Health Center can walk you through your choices.

While some couples do choose to become pregnant and simply have diagnostic tests to determine if their fetus is affected, others opt for pre-implantation genetic diagnosis, a type of in vitro fertilization that tests the embryo for possible genetic disorders before it’s implanted in the womb.

If you’d like to know more about preconception genetic testing, we’re ready to help. Call our Beverly Hills office today or schedule an appointment online any time.

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