1. Check for high-risk conditions
Genetic carrier tests evaluate the DNA of the mother and father. Sometimes, people can have a gene for a particular disorder but do not have that condition. That partner would be considered a carrier. Couples should speak with a healthcare provider to ask for a recommendation about carrier screening. Those who are of Eastern European Jewish descent may be carriers of Tay-Sachs disease or cystic fibrosis. Non-Hispanic white parents are commonly carriers of cystic fibrosis. And parents-to-be of African, Mediterranean, and Southeast Asian descent may want testing for sickle cell disease.
2. Understand birth defect risk
Women can opt to have prenatal genetic testing done during the first or second trimester. During the first trimester, the ultrasound exam can measure the thickness of the back of the fetus’s neck. An abnormal measurement may mean an increased risk of Down syndrome or heart defects. During the second trimester, genetic screening can test for significant physical abnormalities of the brain and spine, heart, facial features, and limbs. Parents-to-be should understand that these tests are a measurement of risk and do not mean that the fetus has a birth defect.
3. Are you going through IVF?
Hopeful parents who are going through fertility treatments such as in-vitro fertilization (IVF) may benefit from preimplantation testing. Preimplantation genetic diagnosis is a test to screen embryos for genetic abnormalities. This helps to ensure that embryos without abnormalities are the ones implanted into the uterus in the hopes of achieving pregnancy.
4. Put your mind at ease
Before opting for genetic testing, consider how the information may be of benefit. Some couples decide that knowing ahead of time if a child will have a genetic disorder will be beneficial. The couple may want more time to prepare and understand how to best care for the child. Some couples would rather not know. There is no right or wrong answer. For many couples, however, genetic screening can put the mind more at ease.
How can I learn more?
Women who want to consider genetic testing during pregnancy should speak with a healthcare provider to learn more about the pros and cons. Couples can screen for carrier genes even before pregnancy. For more information on genetic testing, schedule an appointment with a fertility specialist.
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