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Genetic Screening Before Embryo Transfer

Genetic Testing for Embryos

What is
Preimplantation Genetic Testing (PGT)?

Preimplantation Genetic Testing (PGT) is a specialised procedure performed in conjunction with IVF treatment. It involves checking the embryo’s DNA to detect potential genetic abnormalities before implantation.

Although PGT is not a fertilisation treatment itself, it significantly improves the chances of a healthy pregnancy by ensuring that only genetically normal embryos are transferred to the uterus. This reduces the risk of miscarriage, inherited conditions, and difficult decisions later in pregnancy. In this procedure, one or two cells are carefully taken from the embryo (on Day 3 or Day 5) and analysed for genetic or chromosomal issues.

Benefits of PGT

Increases the chance of a healthy pregnancy and live birth with IVF
Reduces the risk of miscarriage
Identifies embryos carrying genetic or chromosomal abnormalities
Prevents the inheritance of specific genetic diseases
Allows doctors to transfer only healthy embryos into the uterus

PGT is especially recommended for:

Women of advanced maternal age (above 35–37)
Couples with a history of recurrent miscarriages
Patients with repeated IVF failures
Couples with a known family history of genetic disorders
Male partners with severe male factor infertility

PGT-A – Aneuploidies

PGT-A Chromosome Screening

Previously known as Preimplantation Genetic Screening (PGS), PGT-A checks whether embryos have the correct number of chromosomes (46 in total). This testing helps detect abnormalities that can cause failed implantation, miscarriage, or genetic conditions.

PGT-A can detect conditions such as:

Down’s Syndrome (Trisomy 21)
Patau Syndrome (Trisomy 13)
Edward’s Syndrome (Trisomy 18)
Turner Syndrome (XO)
Klinefelter Syndrome (XXY)
Triple X Syndrome (XXX)
Jacob’s Syndrome (XYY)

Who benefits from PGT-A?

Couples with advanced maternal age
Men with severe sperm abnormalities
Couples with repeated IVF failure
Couples with recurrent pregnancy loss

PGT-M – Monogenic Diseases

PGT-M Genetic Testing

Formerly called Preimplantation Genetic Diagnosis (PGD), PGT-M tests embryos for specific inherited diseases caused by single-gene mutations. This testing is highly recommended for couples who have a family history of genetic disorders, including:

Single-Gene Testing

Thalassaemia
Marfan syndrome
Huntington’s disease
Cystic fibrosis
Sickle cell disease
Haemophilia

Key points:

PGT-M requires a tailor-made test designed for each family’s genetic condition.
A pre-workup phase is needed before testing can begin.
PGT-M can also be combined with HLA Typing to find genetic matches for potential stem cell donation.

PGT-SR – Structural Rearrangements

PGT-SR Reduce Chromosomal Risk

PGT-SR is recommended for couples where one or both partners carry chromosomal structural rearrangements such as translocations, deletions, or inversions.

These rearrangements can lead to:

Miscarriages
Failed implantation
Genetic disorders in the offspring

Benefits of PGT-SR:

Identifies embryos with balanced chromosomes
Reduces miscarriage risk
Improves the chances of a successful pregnancy

PGT-HLA Typing – Human Leukocyte Antigen

Family Compatibility Testing

PGT-HLA Typing is a specialised test that identifies embryos genetically compatible with existing family members who may need a stem cell transplant.

Why choose HLA Typing?

Helps families with a child affected by conditions like leukaemia, thalassaemia, or immune disorders
Allows the selection of an embryo that is not only healthy but also a potential stem cell donor match

Preimplantation Genetic Testing PGT

Preimplantation Genetic Testing (PGT) empowers couples to make informed decisions and increases the chances of having a healthy baby. By identifying chromosomal and genetic abnormalities before implantation, PGT supports a smoother, safer fertility journey with fewer complications.