Be prepared with prenatal diagnostic testing

Get answers about your pregnancy

If an earlier test shows a concern, find out if your developing baby has a condition caused by changes to their chromosomes—before you give birth. Unlike a screening test that assesses the level of risk, prenatal diagnostic testing offers definitive answers.

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    What are chromosomal conditions?

    Chromosomes contain instructions for the body to help it develop and grow. If there’s a change in the number, size, or structure of your baby's chromosomes, it may affect your baby's growth, development, or the ability for body systems to function.
  • Find answers to common questions about genetic testing, Invitae, and more.

    How do they develop?

    Chromosomal changes are usually spontaneous, occurring when the egg or sperm cells are forming during conception. Sometimes, however, chromosomal changes are inherited from one or both parents.
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The American College of Obstetricians and Gynecologists (ACOG) recommends that all women, regardless of age, be offered screening and/or diagnostic testing for chromosomal conditions during pregnancy.¹

An option for every pregnancy

Invitae offers several types of prenatal diagnostic tests. Your doctor may recommend one or several of these options based on your personal situation.
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    Fluorescence in situ hybridization (also known as FISH) is a test that offers a rapid answer to how many copies of several specific chromosomes your baby has, including chromosomes 13, 18, 21, X, and Y. This test is generally followed by a more comprehensive test, like karyotype or microarray analysis.
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    Microarray analysis counts the number of chromosomes that are present and whether there are any extra or missing pieces. This test can also detect small changes (called microdeletions and microduplications).
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    This test looks at your baby’s overall chromosomal structure to see if there are any abnormalities, such as extra or missing chromosomes. It can detect large chromosomal changes, but not microdeletions or microduplications.
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How testing works

Your healthcare provider will collect a small sample of your developing baby’s cells in order to analyze their chromosomes. Samples may be collected in one of two ways:

Chorionic villus sampling (CVS) is a first-trimester procedure that collects cells from the placenta using a thin plastic tube inserted through your cervix or a thin needle inserted into your belly (an ultrasound is used to guide the needle safely).2

Amniocentesis is a second-trimester procedure that collects a small sample of amniotic fluid using a thin needle inserted into your belly (an ultrasound is used to guide the needle safely).2

After Invitae analyzes your sample, your healthcare provider will receive a report detailing your baby’s chromosomal makeup. Discuss the results with your provider to understand the implications.

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What are the potential results?

For most people, testing provides welcome peace of mind, revealing that their baby does not have the conditions tested for.

If your results are positive, this confirms that your baby has a genetic condition. Your healthcare provider can help you understand whether treatments are available, including special treatment immediately after birth to improve the baby’s health, as well as any extra care your child is likely to need. Testing with Invitae includes a comprehensive post-test session with a genetic counselor, who can answer any remaining questions about your results and next steps.

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You don’t have to figure it out alone

Invitae’s genetics experts are available to guide you through the testing process, help you make sense of your results, and plan a path forward.


1. American College of Obstetricians and Gynecologists. Screening for fetal chromosomal abnormalities. Obstet Gynecol. 2020(226);136(4):e48–e69.
2. While all pregnancies carry risk of miscarriage, there is a small additional risk (less than 1%) associated with these tests due to the invasive nature of CVS and amniocentesis. Your healthcare provider can help you understand the process and risks involved.