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Fertility and Genetic Screenings

Preimplantation Genetic Testing (PGT) for Aneuploidies & Monogenic disorders

Helpful tools
Preimplantation Genetic Testing (PGT)

Selecting the best embryo from Preimplantation Genetic Testing (PGT) can reduce the time to pregnancy by giving a better choice of which embryo to use first.

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PGT - Aneuploidies

Preimplantation Genetic Testing for Aneuploidies

PGT-A

The PGT-A test checks the number of chromosomes in each embryo at the blastocyst stage (a blastocyst is an embryo that has been developed in the laboratory for five or six days after fertilisation).

Due to the fact that many blastocysts have the wrong number of chromosomes (a condition known as aneuploidy), PGT-A is a powerful tool for selecting a good embryo for transfer. Aneuploidy can lead to miscarriages, birth defects and other complications.

What are the benefits of PGT-A

  • if you have a normal/euploid embryo, then it has the same chance of implantation regardless of your age
  • Lower miscarriage rate
  • More certainty for people about the likely outcome of treatment

Who can benefit from PGT-A

  • women of advanced age with good ovarian reserve,
  • people who have had recurrent miscarriages,
  • people not pregnant despite the transfer of several embryos (PGT-A may uncover a higher than expected chromosome abnormality rate),
  • patients who are willing to go through more than one egg collection cycle to obtain a normal embryo

How does PGT-A works?

  • About 5-6 cells are biopsied from each blastocyst using a fine glass needle
  • The blastocysts are frozen for later use
  • The cells are analysed at Sunfert’s state-of-the-art PGT laboratory
  • Euploid blastocysts are selected and transferred at a later date after thawing
PGT-M can detect aneuploidy at low resolution.
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PGT - Monogenic disorder

Preimplantation Genetic Testing for Monogenic disorders

PGT- M & Karyomapping

For people who have a chance of passing on an inheritable genetic disorder to their child, such as Cystic Fibrosis, Huntington’s, Beta-thalassemia, Fragile X and Spinal Muscular Atrophy (SMA). These are caused by a change or mutation in the gene.

Who can benefit from PGT-M

  • women who have had previous pregnancy termination(s) due to a serious genetic disorder
  • couples who already have a child with a genetic disorder
  • couples who have a family history of any inherited genetic condition
PGT-M cannot be used for gender selection in Malaysia.
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FAQ about Karyomapping

How does Karyomapping differ from other PGT-M tests?

Until recently, PGT-M tests for disorders caused by inheritance of a defective gene had to be tailor-made for each couple. This required weeks or months of work by highly skilled scientists, meaning that costs were high and there was often a long wait before IVF treatment could begin. By contrast, karyomapping provides a test for PGT-M of almost any known gene defect with a rapid turnaround time. The accuracy of Karyomapping is improved as there are approximately 300,000 markers throughout the whole genome to determine the inheritance of the gene.

Who is Karyomapping for?

You may know that you are a carrier of a genetic disorder because you already have an affected child, or you may be aware of a family history of the disorder and have had your DNA tested.
Karyomapping is a new technique that allows couples, known to be carriers or affected with an inherited condition, to avoid passing on that disorder to their offspring. The technique works by screening embryos for the disorder before implantation in the womb (uterus)—a technique called Preimplantation Genetic Testing - Monogenic disorder, or PGT-M.

Using PGT-M greatly reduces the chance that a fetus will be affected by the genetic disorder and, consequently, it is much less likely that termination of a pregnancy will need to be considered, or that an affected child will be born.

Why IVF is needed?

In order to carry out PGT-M in vitro fertilization (IVF) is essential. This process involves collecting several eggs from the ovaries and fertilizing them outside the body (in vitro) to produce several embryos. Each of the embryos can then be tested to find out which are suitable for transfer.

Only the embryos that are predicted to be free of the genetic condition are transferred to the uterus and, consequently, any pregnancy that begins has a low risk of being affected by the disorder.

About Thalassaemia

Thalassaemia is an inherited blood disorder where due to the instability of the wall of the red blood cell (RBC), the patient constantly suffers from anaemia (low levels of haemoglobin, the oxygen carrying part of the RBCs).

  • It is estimated that one in 20 Malaysians are thalassaemia carriers, which is about 1.5 million Malaysians, affecting mainly the Chinese.
  • If both parents of a child are thalassaemia carriers, there is a 25% chance the child have major thalassaemia, which is a serious condition.
  • PGT-M now offers a chance for the couple to have a disease free child by testing the embryos created from IVF for the thalassaemia gene before being implanted into the womb.
  • This also effectively stops the thalasaemia gene from being passed down to the subsequent generations.

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The Biological Clock

This tool indicates:

  • Natural conception per month if you have no fertility issues
  • IVF success rate at the same age
  • When to seek help after months of unsuccessful attempts

If you are concerned at any stage – we recommend booking a doctor appointment or a free nurse consultation. The sooner you make a plan the better your chances in the long term.

When to seek advice early

  • If you have polycystic ovaries, endometriosis, or have been through a cancer diagnosis; we recommend you get in touch quickly so we can talk you through all your options and give you the greatest possible chance of success.
  • If you’re a single woman considering motherhood in the future; it’s best to approach us early and consider egg freezing as this can be an option for you while you have a higher ovarian reserve and healthier eggs.
Set your age and the months you’ve been trying to conceive
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Your chance of having a baby per month for fertile couples
Your chance of having a baby per IVF cycle (if experiencing infertility)

Body Mass Index calculator

Being overweight or underweight can reduce fertility, so it is important to keep your body weight within the normal healthy range.

Body Mass Index (BMI) is an indication of your body weight and can be calculated by dividing weight by height. You should aim for a BMI of between 20 and 25, as this will optimise your chances of conception.

Woman’s BMI below 19

Even in these modern times, nature knows best. If a woman's BMI falls below 19, the body senses famine and ovulation is switched off to prevent the risk of having a baby with malnutrition. Excessive exercise can reduce body fat and increase muscle mass to a point where periods cease for the same reason. Risk of miscarriage is also increased in women with a low BMI.

Being underweight

If a woman's BMI falls below 19, the body senses famine and ovulation is switched off to prevent the risk of having a baby with malnutrition. Excessive exercise can reduce body fat and increase muscle mass to a point where periods cease for the same reason. Risk of miscarriage is also increased in women with a low BMI.

BMI’s greater than 30

This can reduce fertility by 50%. Pregnancy for women with a 30+ BMI is often associated with problems such as maternal diabetes, high blood pressure, big babies and increased risk of caesarean section.

Add your height and weight to calculate your BMI