Should I Consider Getting Prenatal Genetic Testing?

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Prenatal genetic testing includes screening and diagnostic procedures that are conducted throughout your pregnancy. Screening tests tell your doctor the risk that your baby might have an abnormality in his or her genes or chromosomes. These tests are typically less invasive. For example, noninvasive prenatal genetic testing gives your doctor information about the health of your baby using nothing more than a blood sample from the mother.



Diagnostic testing will tell your doctor definitively if your baby has a genetic or chromosomal abnormality. Prenatal diagnostic genetic testing requires more invasive techniques because they use samples from the uterus and the placenta in order to analyze the baby’s DNA.

Who Might Want to Consider Prenatal Genetic Testing?

Certain risk factors may place some babies at a higher risk of developing a genetic or chromosomal disorder. These risks include:

  • Being of advanced maternal age (35 years or older) when pregnant
  • Having had a previous fetus and/or child diagnosed with a genetic condition
  • Family history of a chromosomal or genetic disorder
  • Screening results that show a high risk of a chromosomal abnormality in the fetus
  • Belonging to a racial or ethnic group with a higher risk of being affected
  • Environmental factors such as regular alcohol consumption, use of certain medications, having certain infections, etc.

If you meet any of these criteria, there may be significant benefits to getting prenatal genetic testing.

You Will Learn More About the Health of Your Child

Prenatal genetic testing provides information about the health of a developing fetus for parents-to-be and can uncover the possibility (in the case of prenatal screening) or give a conclusive answer (in the case of diagnostic testing) that your child has a chromosomal abnormality. This information can be used to make informed decisions regarding prenatal care throughout your pregnancy.



You May Obtain Information Relevant to Future Pregnancies

In the case of some chromosomal disorders, having a child with the condition can put your subsequent children at a higher risk of being born with the same disorder. For example, a woman who has previously given birth to a child with Down syndrome will have a higher risk of having another child with Down syndrome than the typical risk associated with her age.

You Will Have Time to Explore Healthcare Options for Your Child

If you receive a positive diagnostic test result, you can begin to make choices regarding your child’s healthcare, such as beginning to research physicians that will make up his or her care team.

Some chromosomal disorders and genetic conditions are associated with severe and sometimes life-threatening physical abnormalities. For example, 50% of children born with Down syndrome will have some type of heart defect at birth. If a physical abnormality associated with a genetic condition is detected early, you can make plans to have an emergency surgery performed when your child is born.

Where Can You Learn More About Prenatal Genetic Testing?

Healthcare professionals called genetic counselors are trained in medical genetics and counseling. Couples who are planning on having a child can visit a genetic counselor to understand their risk of having a child with a genetic condition. During these visits, testing options to monitor and analyze this risk are discussed. It is important to understand that prenatal genetic testing is optional, and the risks and benefits should be thoroughly discussed before making the decision that is best for you.


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