Be prepared with prenatal diagnostic testing
Get answers about your pregnancy
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.
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.
An option for every pregnancy
RAPID FISH ANALYSISFluorescence 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.
MICROARRAY ANALYSISMicroarray 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).
KARYOTYPE ANALYSISThis 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.
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.