Unlike a screening test that assesses the level of risk, prenatal diagnostic testing offers definitive answers. Know whether or not your developing baby has a condition caused by changes to their chromosomes.
Chromosomes carry important genetic material in the form of genes that contain instructions for the body to help it develop and grow.
Chromosomal conditions occur when there is a change in the number, size, or structure of your baby’s chromosomes. These changes can affect growth, development, or the ability of body systems to function.
Chromosomal changes are usually spontaneous and occur when the egg or sperm cells are forming during conception. Sometimes, however, chromosomal changes are inherited from one or both parents.
If you are pregnant and would like to know if your baby has a chromosomal condition, prenatal diagnostic testing is available to you. Your healthcare provider may recommend testing if:
Your doctor 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 performed to collect a small sample of 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)*.
Amniocentesis is a second-trimester procedure performed to collect a small sample of amniotic fluid using a thin needle inserted into your belly (an ultrasound is used to guide the needle safely)*.
You don’t have to figure it out alone. Genetics experts are available to guide you through the testing process, help you make sense of your results, and plan a path forward.
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* 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 these procedures. Your healthcare provider can help you understand the process and risks involved.