Pre-implantation genetic testing (PGT) provides valuable information for selected patients during the stages of planning a family.

There are various types of PGT:

1. PGT-A, known as PGT for aneuploidy, is used for checking the correct number of chromosomes in an embryo
2. PGT-SR, known as PGT for structural rearrangements, is used to check for the correct location of chromosomes in an embryo
3. PGT-M, known as PGT for genetic mutations, is used to identify inherited genetic disorders in an embryo

The various types of PGT can:

• Help couples who have already begun in-vitro fertilization (IVF) choose healthy embryos (fertilized eggs) that have the best chance for a healthy pregnancy
• Let patients avoid the risk of having a child with an inherited disorder before they become pregnant
• Allow patients to decide on the gender of the embryo or embryos to be transferred.

Types of Testing

We offer a variety of genetic screening tests, some offered even before creating embryos and called pre-conception genetic carrier screening, and others offered on embryos, called pre-implantation genetic tests.

Pre-conception testing

This test is for individuals before beginning a family. Many inherited genetic diseases require two faulty genes to cause the disease. If a woman carries a faulty gene and the man also carries that same faulty gene, then the baby has a 25% risk (1 out of 4) that he/she would be affected by a genetic disease.

Our comprehensive, expanded, pre-conception genetic testing screens for more than 300 conditions to determine whether you are at risk of having a child with an inherited disorder.

Pre-implantation genetic testing for inherited genetic mutations (PGT-M)

This test is for couples/partners that have been found to carry the same genetic mutations after the pre-conception screening or that have a family history of an inherited disease and screen embryos for that specific genetic disorder.

For example, if both partners are silent carriers (silent because when someone is a carrier has no symptoms) for cystic fibrosis mutations, the resulting embryos have 1 in 4 chances to be affected by cystic fibrosis.

By doing PGT-M, the doctor can help you in avoiding having a child with cystic fibrosis or any other inheritable genetic condition. The PGT-M is also offered to patients that are known carriers of genetic mutations linked to cancer, such as breast cancer mutations (BRCA-1 or 2) or others.

Pre-implantation genetic testing for aneuploidy or for structural rearrangements (PGT-A and PGT-SR)

PGT-A checks for the correct number of chromosomes, while PGT-SR checks for the correct location of chromosomes in an embryo. More or fewer chromosomes than the usual 46 can cause disorders such as Down or Edwards syndromes.

Disordered chromosome locations, called translocations, can cause miscarriages or developmental problems. Your doctor will discuss with you whether you should have PGT-A or PGT-SR as part of your IVF treatment.

Who Is a Candidate for PGT? 

Testing can be beneficial for couples/ partners who are:

• Silent carriers of the same genetic mutations and at risk of having an affected child
• Carriers for cancer genetic mutations (for example, BRCA-1 or 2)
• Diagnosed with multiple, unexplained miscarriages
• Diagnosed with multiple unexplained pregnancy failures with IVF
• Desirous of gender selection for family balancing

Talk to your doctor to find out if testing is right for you.