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I’m doing in vitro fertilization (IVF) and I heard that I can do genetic testing on my embryos. What does that mean?
Most likely you have been offered something called “PGT-A,” which is a type of genetic testing anyone can do on their embryos. It stands for Pre-implantation Genetic Testing for Aneuploidy, and it checks the embryo for extra or missing chromosomes before pregnancy. PGT-A is often used to help pick embryos that are more likely to lead to successful pregnancies. But PGT-A does not guarantee a pregnancy or healthy baby. There are many things it can’t detect.
In some cases, a specialized type of genetic testing can be done on embryos. If you or your partner have a specific disease-causing change (i.e. mutation) in one of your own genes, or a rearrangement in your chromosomes, you may be eligible for PGT-M or PGT-SR. Ask your doctor for more information, and to find out if this applies to you.
I did PGT-A testing on my embryos. Do I need to do non-invasive prenatal testing (NIPT) during the pregnancy?
NIPT (also called NIPS) is a prenatal screening test that screens for extra or missing copies of chromosomes 13, 18, 21 and the sex chromosomes. PGT-A screens for extra or missing copies all chromosomes, including 13, 18, 21 and sex chromosomes. After PGT-A, your pregnancy is at very low risk for a chromosome condition, but since PGT-A isn’t a perfect test, you can consider NIPT if you want further reassurance. If there are any specific ultrasound findings, NIPT may be suggested by your doctor.
DISCLAIMER
The materials and information presented by the Canadian Association of Genetic Counsellors (“CAGC”) on this platform is for general informational purposes only. It is not advice and is not intended to create a client relationship. It is not a substitute for advice from a medical practitioner and any party with personal medical questions or in need of medical assistance should seek advice from a qualified professional. The field of genetics continues to evolve, which means, despite reasonable efforts to maintain the information provided on this platform, CAGC cannot guarantee the same is current or correct. CAGC expressly disclaims all liability with respect to actions taken or not taken based on information which it provides or omits on this platform.