Preventing Down’s Syndrome in IVF: How Pre-implantation Genetic Testing (PGT) Can Help

The thought of having a child with Down’s syndrome can be a source of anxiety for many parents, especially during pregnancy. The uncertainty can feel overwhelming, but with Pre-implantation Genetic Testing (PGT) in IVF, you can take proactive steps to reduce the risk and ensure a healthier start for your baby.
Let’s learn more about Down’s syndrome and how PGT can help.

What is Down’s Syndrome?

Down’s syndrome is a genetic condition caused by an extra copy of chromosome 21, leading to three copies instead of the usual two. This condition, also known as trisomy 21, affects a baby’s physical and cognitive development. It is one of the most common chromosomal abnormalities, occurring in approximately 1 in every 700 births worldwide.
Children born with Down’s syndrome often have distinctive facial features, such as a flat facial profile, slanted eyes, and a short neck. They may also experience intellectual disabilities ranging from mild to severe. Additionally, individuals with Down’s syndrome have a higher risk of certain health conditions, including congenital heart defects, respiratory issues, and thyroid disorders.

Why Does Down’s Syndrome Happen?

Down’s syndrome occurs due to an error in cell division, typically during the formation of the egg or sperm. This results in an extra copy of chromosome 21 in all or some of the baby’s cells. The exact cause of this genetic error is still unknown, but research shows that maternal age is a significant factor.
The likelihood of having a baby with Down’s syndrome increases with maternal age, particularly after the age of 35. The risk rises from 1 in 1,250 at age 25 to 1 in 100 at age 40. Due to this, many couples, especially those planning pregnancies later in life, seek genetic screening options to ensure a healthy pregnancy.

Can Down’s Syndrome Be Prevented?

While there is no way to completely prevent chromosomal abnormalities from occurring naturally, modern reproductive technology offers a solution—Pre-implantation Genetic Testing (PGT) in IVF (In Vitro Fertilisation).
PGT is an advanced genetic screening technique used in IVF to analyse the chromosomes of embryos before implantation. This process helps identify embryos with the correct number of chromosomes, significantly reducing the chances of transferring an embryo affected by Down’s syndrome.

How Does PGT Work in IVF?

If you are undergoing IVF treatment, your fertility specialist may recommend PGT as part of the process. Here is how it works:

1. Ovarian Stimulation and Egg Collection

Hormonal medication is given to stimulate the ovaries, encouraging multiple eggs to mature. Once ready, the eggs are retrieved through a minor procedure and preserved for fertilisation.

2. Fertilisation in the Laboratory

After that, the collected eggs are fertilised with sperm in a lab. They are then monitored for a few days to ensure proper development, with the healthiest embryos selected for genetic testing.

3. Pre-implantation Genetic Testing (PGT)

Next, a small sample of cells is taken from each embryo and tested for chromosomal abnormalities, including Down’s syndrome. Only embryos with normal chromosomes are selected for implantation.

4. Embryo Transfer

Once the healthiest embryo is identified, it is placed into the uterus using a thin catheter. Meanwhile, any extra healthy embryos can be frozen for future use, offering another chance at pregnancy later.

5. Pregnancy Test and Follow-up

Finally, two weeks after the transfer, a blood test is recommended to confirm pregnancy, as it provides the most accurate results. If successful, routine prenatal check-ups will ensure the baby’s healthy development. If not, your doctor may suggest a frozen embryo transfer or another IVF cycle.

Why Should You Consider PGT in IVF?

Opting for PGT in IVF offers several benefits, particularly for couples at risk of chromosomal abnormalities:

• Reduces the risk of Down’s syndrome – By screening embryos before implantation, only genetically normal embryos are transferred.
• Increases IVF success rates – Selecting healthy embryos improves the chances of implantation and a successful pregnancy.
• Minimises emotional and financial burden – Early screening reduces the likelihood of pregnancy loss due to chromosomal abnormalities.
• Provides peace of mind – Parents can feel reassured knowing their baby has the best possible start in life.

Who Should Consider PGT?

PGT is particularly beneficial for:

• Women aged 35 and above – The risk of chromosomal abnormalities increases with age.
• Couples with a history of genetic disorders or previous pregnancy losses due to chromosomal abnormalities.
• Those undergoing IVF and wanting to maximise their chances of a successful pregnancy.
• Parents who wish to reduce the risk of passing on genetic conditions.

Take the Next Step: Book a Consultation Today

If you are considering IVF and want to reduce the risk of Down’s syndrome, Pre-implantation Genetic Testing (PGT) is a crucial step in ensuring a healthy pregnancy. With the advancement of genetic screening, couples can now make informed choices to increase their chances of having a healthy baby.
To learn more about PGT in IVF, speak to one of our fertility specialists today. Contact us now to book a consultation and take the first step towards a successful pregnancy.