Genetic testing

Pre-implantation genetic testing or PGT is a highly valuable technology, used to test your embryos for chromosomal abnormalities and genetic diseases.

PGT-A (Preimplantation Genetic Testing for Aneuploidy), previously known as PGS (Preimplantation Genetic Screening) – is done to check if there is an aneuploidy (anomaly in the number of chromosomes in the embryo). If unchecked, these anomalies are responsible for miscarriages or problems like Down’s syndrome.

Infact, more doctors are recommending PGT-A for improving IVF success, especially in women of advanced age.

PGT-M is genetic testing for monogenic/single gene disorders, which helps detect inherited genetic disorders that are caused by mutations in a single gene such as Huntington’s disease, cystic fibrosis, sickle cell anemia, Tay-Sachs, etc.

PGT-SR Stands for genetic testing for structural rearrangements in chromosomes, such as inversions or translocations, which may lead to extra or reduced genetic material in the chromosomes that may cause loss of pregnancy.

Genetic testing is advised in the below situations:

  • One or both partners are carriers or have significant family history of genetic diseases
  • You have had several failed IVF cycles
  • Multiple miscarriages
  • Seeking IVF after the age of 35

While PGT is done only after an IVF cycle is completed and the embryos are ready, there are some genetic tests that can be employed to check the integrity of individual gametes, before any fertility treatments are done.

Karyotype testing is done to examine the cells in blood or body fluids to check for abnormalities. Men can also do the sperm DNA fragmentation analysis to check if the sperm cells have broken DNA, which could be detrimental to conceiving.