Preimplantation Genetic Testing (PGT)

Preimplantation Genetic Testing (PGT) is a specialized set of procedures conducted during in vitro fertilization (IVF) to assess the genetic makeup of embryos before they are implanted in the uterus. PGT is used to screen for genetic abnormalities or chromosomal disorders in embryos, providing valuable information to assist in the selection of embryos with the best chance of a successful pregnancy.

There are two main types of PGT: PGT-A (Preimplantation Genetic testing for Aneuploidy) and PGT-M (Preimplantation Genetic testing for Monogenetic/Single-gene defects). PGS -preimplantation genetic screening is helpful in screening for euploidy, mosaics and aneuploidy.

1. PGT-A (Aneuploidy Testing):

• PGT-A involves detection of aneuploidy in embryos, which is the presence of an abnormal number of chromosomes. (Normal being 24 chromosomes which include 22 autosomes and 2 sex chromosomes)
• Detects numerical chromosomal abnormalities, such as trisomy 21,an extra chromosome (Downs syndrome) or monosomy ,a missing chromosome (Turners syndrome).
• Aims to increase the likelihood of implantation and reduce the risk of miscarriage.

2.PGT-M (Monogenic/Single Gene Disorders):

• PGT-M is used to identify specific genetic disorders or mutations in embryos.
• Recommended for couples with a known genetic disorder who want to prevent the transmission of the condition to their offspring.( Cystic fibrosis, Sickle cell anaemia, Spinal muscular dystrophy etc)
• Assists in selecting embryos that do not carry the identified genetic mutation.

Who is PGT Recommended For?

PGT is recommended for individuals or couples who may be at an increased risk of passing on genetic disorders to their children or those who have experienced recurrent pregnancy loss. Specific scenarios include:

• Advanced Maternal Age: Women over the age of 35 are at an increased risk of chromosomal abnormalities in their eggs, leading to a higher risk of miscarriage or genetic disorders in offspring.
• Recurrent Pregnancy Loss: Couples who have experienced multiple miscarriages may opt for PGT to identify chromosomal abnormalities in embryos, improving the chances of a successful pregnancy.
• Known Genetic Disorders: Couples with a history of genetic disorders may choose PGT to avoid passing on the condition to their children.
• Male Factor Infertility: Couples with male partners with severe sperm abnormalities may opt for PGT to increase the chances of a healthy pregnancy.
• Previous Chromosomal Abnormalities: Individuals or couples who have had a child with a chromosomal abnormality may choose PGT to reduce the risk in subsequent pregnancies.

Success Rate

The success rate of PGT is influenced by various factors, including the expertise of the fertility clinic, the age of the woman providing the eggs, and the overall health of the individuals involved. PGT-A, in particular, has been shown to improve implantation rates and reduce the risk of miscarriage by selecting embryos with the correct chromosomal number.

While PGT can significantly enhance the chances of a successful pregnancy, it's essential to recognize that it does not guarantee a pregnancy and may not be necessary for all individuals undergoing IVF. Success rates can vary, and discussions with fertility specialists are crucial to determine the most appropriate course of action based on individual circumstances.

If you are considering assisted reproductive technologies and want to ensure the genetic health of your future child, our expertise in Preimplantation Genetic Testing is here to guide you. We are dedicated to providing the highest standards of care, utilizing the latest scientific advancements to make your path to parenthood a successful and fulfilling one.