Genetic Testing

Genetic Testing

The Family Beginnings laboratory performs embryo biopsy for preimplantation genetic testing (PGT).

There are two types of PGT available: PGT-A and PGT-M. Preimplantation Genetic Testing for Aneuploidies (PGT-A) allows us to screen for abnormal chromosome numbers or embryo sex. “Aneuploidy” means that there is an incorrect amount of DNA in the cells of the embryo – either too much DNA or too little. Most aneuploidies will miscarry or not implant at all. PGT-A tells us which embryos are euploid (normal) and aneuploid (abnormal), and euploid embryos can then be transferred in an FET. Studies have shown that embryos with PGT are more likely to result in pregnancy. PGT-A is the most common form of PGT used by patients in our clinic. 

Preimplantation Genetic Testing for Monogenic/Single Gene Defects (PGT-M) allows us to diagnose certain serious genetic conditions in the embryo when the parents are known carriers, like Cystic Fibrosis or Fragile X Syndrome.

 How this biopsy works:

On Day 5 of embryo growth, a laser makes a small hole in the shell of the embryo and a few cells are removed with a tiny pipette. These cells are from the trophectoderm, which are the cells that eventually become the placenta. The biopsied cells are put in a tube and sent to an outside genetics laboratory. There, scientists amplify the DNA and use a technique called Next Generation Sequencing (NGS) to assess the embryo’s chromosomes. Because it takes 1 – 2 weeks to get results, embryos are frozen immediately after biopsy. If an embryo is diagnosed as euploid (a normal amount of DNA, 46XX or XY), you may proceed with an FET.

Please call the office for pricing.