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Prenatal genetic counseling

Genetics is the study of heredity, the process of a parent passing certain genes on to their children.

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Genetic counseling and prenatal diagnosis

What is Prenatal Genetic Counseling?

Prenatal genetic counseling is the process where parents can learn more about:

Couples who want to have a baby can have tests before they get pregnant. Health care providers can also test a fetus (unborn baby) to see if the baby will have a genetic disorder, such as cystic fibrosis or Down syndrome.

Who may Want Prenatal Genetic Counseling?

It is up to you whether or not to have prenatal genetic counseling and testing. You will want to think about your personal desires, religious beliefs, and family circumstances.

Some people have a greater risk than others for passing on genetic disorders to their children. They are:

Testing is also suggested for:

Talk about genetic counseling with your provider and your family. Ask questions you may have about the test and what the results will mean for you.

What Will Counseling and Tests Tell me?

Keep in mind that genetic tests that are done before you get pregnant (conceive) can most often only tell you the odds of having a child with a certain birth defect. For instance, you may learn that you and your partner have a 1 in 4 chance of having a child with a certain disease or defect.

If you decide to conceive, you will need more tests to see if your baby will have the defect or not.

For those who may be at risk, test results can help answer such questions as:

What Will Happen?

You can prepare by finding out if any medical problems like these run in your family:

Steps in prenatal genetic counseling include:

If you choose to be tested after you become pregnant, tests that may be done during the pregnancy (either on the mother or fetus) include:

These tests have some risks. They may cause infection, harm the fetus, or cause a miscarriage. If you are worried about these risks, talk to your provider.

What if I Carry a Genetic Disorder?

The purpose of prenatal genetic counseling is simply to help parents make informed decisions. A genetic counselor will help you figure out how to use the information you get from your tests. If you are at risk, or if you find out that your baby has a disorder, your counselor and provider will talk to you about options and resources. But the decisions are yours to make.

References

Hobel CJ, Williams J. Antepartum care: preconception and prenatal care, genetic evaluation and teratology, and antenatal fetal assessment. In: Hacker NF, Gambone JC, Hobel CJ, eds. Hacker & Moore's Essentials of Obstetrics and Gynecology. 6th ed. Philadelphia, PA: Elsevier; 2016:chap 7.

Nussbaum RL, McInnes RR, Willard HF. Prenatal diagnosis and screening. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia, PA: Elsevier; 2016:chap 17.

Wapner RJ, Duggoff L.Prenatal diagnosis and congenital disorders. In: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2019:chap 32.

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Review Date: 1/28/2020  

Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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