Prenatal Screening and Testing for Chromosome Conditions

This online prenatal testing information tool provides the contents found in our “Prenatal Screening and Testing for Chromosome Conditions” pamphlet, as well as links to additional resources and more detailed information about chromosome conditions. “Prenatal Screening and Testing for Chromosome Conditions” is also available as a printed pamphlet in the Lettercase Bookstore.

Medical providers can also request a free sample copy by completing an online request form.

This pamphlet was prepared with assistance from representatives of The National Society of Genetic Counselors with funding provided by the U.S. Administration on Intellectual and Developmental Disabilities (AIDD), though no official endorsement from AIDD should be inferred.


Pregnancy brings with it many changes, emotions, and appointments. During those visits, doctors offer some tests that are just part of maintaining a healthy pregnancy, such as glucose and iron tests. They also offer some optional tests that can provide genetic information about the pregnancy.

Then, patients can make decisions about prenatal genetic testing based on their own needs and values. They can choose whether or not they want these tests; which tests they want if they choose testing; and how they might use the genetic information.

While most babies are not born with a significant genetic condition, prenatal testing includes screening and diagnostic tests for those genetic conditions that can be found during pregnancy. However, no test available right now can find all possible conditions. (1)

Prenatal Testing Choices

The decision about whether or not to use prenatal genetic testing is very personal and based on a patient’s values and needs. When prenatal testing is offered, patients often find it helpful to discuss their thoughts and feelings about testing with their obstetric medical provider and/or genetic counselor and how they might use the results. That way they can address any areas of concern both before and after testing, as needed.

Some people might choose to have prenatal testing to arrange specific birth plans. There are some who might want prenatal test results so they can start treatments as soon as possible after birth, such as hormone therapy for sex chromosome conditions. Some might want to prepare emotionally for raising a child with a health issue or disability. Others might want to learn more about the condition or, in some cases, prepare for a baby who is not likely to survive. Some might opt not to continue a pregnancy or create an adoption plan for a child with a disability.

Some patients might not want any prenatal testing and feel it would not be helpful or that it would cause unwanted stress and worry. (2)

For more information about prenatal testing and prenatally diagnosed conditions, click below:

Screening Tests
Diagnostic Testing
Understanding Chromosome Conditions
Trisomy Conditions (Down syndrome, Trisomy 18, and Trisomy 13)
Sex Chromosome Conditions (Turner syndrome, Klinefelter syndrome)
Neural Tube Defects (Spina Bifida)
Microdeletions (Angelman/Prader-Willi, 22q, Wolf-Hirschhorn, Cri-du-Chat, Jacobsen, and Williams syndrome)

You can also find more information about prenatal screening and testing at the Genetic Support Foundation.

  1. Update on overall prevalence of major birth defects—Atlanta, Georgia, 1978-2005. MMWR Morb Mortal Wkly Rep 2008;57:1-5.
  2. Sara J Allison, Julie Stafford, Dilly OC. The effect of stress and anxiety associated with maternal prenatal diagnosis on feto-maternal attachment. Anumba. BMC Women’s Health. July 2011, 11:33.


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