Genetic Testing

Preimplantation genetic testing for aneuploidy (PGT-A) and preimplantation genetic testing for monogenic diseases (PGT-M) are two ways to evaluate embryos for chromosomal differences and diseases before implantation. At La Jolla IVF, leading IVF specialist David B. Smotrich, MD, FACOG, uses PGT-A and PGT-M to help give his patients the best chance of having a healthy baby. Call the La Jolla, California, office or use the online contact form to request an appointment for Genetic Testing (PGT-A and PGT-M).  

What is Genetic Testing (PGT-A and PGT-M)?

Preimplantation genetic testing for aneuploidy (PGT-A) and preimplantation genetic testing for monogenic diseases (PGT-M) evaluate embryos created through the in vitro fertilization (IVF) process.

Genetic Testing (PGT-A and PGT-M) screens for genetic differences that could lead to failed embryo implantation, miscarriages, or genetic disorders in babies.

What is the difference between Genetic Testing (PGT-A and PGT-M)?

Genetic Testing (PGT-A and PGT-M) testing reveals two different types of valuable information. PGT-A.

What is the difference between Genetic Testing (PGT-A and PGT-M)?

Genetic Testing (PGT-A and PGT-M) testing reveals two different types of valuable information.

PGT-A

PGT-A testing offers specific information about an embryo’s chromosomes. It can diagnose:

• Down syndrome and other autosomal trisomies
• Autosomal monosomies 
• X and Y numerical disorders like Turner’s syndrome and Klinefelter's syndrome
• Translocations (chromosomes exchanging segments)
• Deletions (deletion of part of a chromosome)

In general, PGT-A can detect problems within chromosomes. 

PGT-M

PGT-M testing can detect embryos with a disease caused by a defect in one gene. It can diagnose:

• Cystic Fibrosis
• Sickle cell anemia
• Duchenne muscular dystrophy
• Hemophilia A
• Retinitis pigmentosa
• Tay-Sachs disease
• Sickle cell anemia
• Thalassemias

PGT-M can also diagnose hundreds of other genetic diseases.

I’m having IVF. When should I consider Genetic Testing (PGT-A and PGT-M)?

Dr. Smotrich recommends Genetic Testing (PGT-A and PGT-M) on a case-by-case basis. 

Chromosomal differences could cause miscarriage — in fact, half of first-trimester miscarriages occur due to a chromosomal abnormality. So, when patients have a history of miscarriages or mothers are older (which comes with higher miscarriage risks), Dr. Smotrich may recommend PGT-A. 

In general, Dr. Smotrich will recommend PGT-M testing for patients with a family history of inherited disorders. This helps patients avoid unknowingly passing a serious lifelong disease to their future offspring. 

When do PGT-A and PGT-M happen during the IVF process? 

After egg retrieval, the eggs are fertilized in the lab and allowed to mature for between three and six days. La Jolla IVF prefers to mature embryos to the blastocyst stage (five days) whenever possible. 

Doing these tests before implantation can increase pregnancy rates because only the most viable embryos are transferred. Also, preimplantation genetic testing can help you avoid a difficult decision later in the pregnancy.

With PGT-A and PGT-M testing, you can go into the embryo implantation process feeling confident. To learn more, call La Jolla IVF or click the online scheduling feature now.