PGT in Malaysia: who needs genetic testing of embryos, and who doesn't?

Preimplantation genetic testing (PGT) checks IVF embryos before one is transferred. For couples who carry a known genetic condition, such as both partners carrying thalassaemia, PGT-M and PGT-SR are established ways to lower the chance of passing it on. PGT-A, which counts chromosomes, is debated: major guidelines do not recommend it for everyone having IVF. In Malaysia, PGT is allowed only for a medical reason.

This page explains the three types, who each is for, what the guidelines say and what Malaysian rules allow. The sources are listed at the end.

What are the three types of PGT?

• PGT-M (monogenic) looks for one specific inherited condition that runs in your family, such as thalassaemia or haemophilia.
• PGT-SR (structural rearrangement) is for couples where one partner carries a rearrangement of their chromosomes, such as a balanced translocation, which can lead to miscarriage or a baby with a chromosome condition.
• PGT-A (aneuploidy) counts the chromosomes in each embryo, looking for too many or too few. It is not looking for a condition in your family. It is used to choose between embryos.

The first two answer a clear question about a known risk. PGT-A is a selection tool, and that is where the evidence is less certain.

How does PGT work?

PGT is always part of IVF. Embryos are usually grown in the laboratory to day 5 or 6 (the blastocyst stage). The embryologist then removes a few cells from the outer layer, the part that later forms the placenta, and each embryo is frozen while the cells are tested. An embryo with a suitable result is thawed and transferred in a later cycle. See frozen embryo transfer.

For PGT-M and PGT-SR there is work to do first. Both partners need genetic tests to confirm the exact change, and for PGT-M the laboratory usually needs blood samples from you and close relatives to build a test for your family. ESHRE recommends this "preclinical work-up" to check that a reliable test can be made for your family before treatment, so allow time for it.

Who is PGT-M or PGT-SR for?

These tests are for couples with a known, specific risk:

• both partners carry the same kind of recessive condition, such as thalassaemia;
• one partner has or carries a dominant or sex-linked condition, such as haemophilia;
• one partner carries a balanced translocation or another chromosome rearrangement, often found after repeated miscarriages.

Genetic counselling comes first. ESHRE's good practice papers say couples should be told about the alternatives, including getting pregnant naturally and testing during pregnancy, before starting PGT-M. They should also be told that no test is perfect and that a confirmatory test in pregnancy may be advised.

We are both thalassaemia carriers. What are our options?

Thalassaemia is common in Malaysia. Since 2016, Form 4 students have been offered screening at school. Between 2017 and 2020, 579 of every 10,000 students screened were confirmed carriers, about 1 in 17 (MOH Clinical Practice Guidelines, Management of Thalassaemia, 2024). Everyone screened is given a thalassaemia screening card, so check yours, or ask your klinik kesihatan or doctor for a blood test (a full blood count, then haemoglobin analysis and DNA testing if needed).

A carrier is usually healthy. The risk arises when both partners carry a thalassaemia gene that can combine. For beta thalassaemia, when both parents are carriers, each pregnancy has a 1 in 4 chance of a baby born with thalassaemia. The type matters:

• two beta thalassaemia carriers can have a child with beta thalassaemia major;
• a beta thalassaemia carrier and an HbE carrier can have a child with HbE beta thalassaemia, which can be moderate to severe;
• two carriers of alpha-zero (α⁰) thalassaemia can have a baby with Hb Bart's hydrops fetalis, a severe condition in pregnancy.

So both partners need their exact type confirmed, usually with a DNA test. The MOH guidelines recommend genetic counselling for at-risk couples and list the reproductive options:

1. Conceive naturally and test in pregnancy. Chorionic villus sampling (CVS) or amniocentesis shows whether the baby is affected. Decisions after a positive result are deeply personal, and the MOH guidelines note that culture, religion and personal beliefs shape them.
2. IVF with PGT-M, so that only embryos without thalassaemia major are transferred. The MOH guidelines say a referral to a fertility specialist should be considered for this. Carrier embryos, like carrier parents, are usually healthy.
3. Adoption, which the guidelines also list.

Some families already have a child with thalassaemia who needs a stem cell transplant. PGT-M can be combined with HLA typing, to find an unaffected embryo that is also a tissue match for that child. The MOH guidelines say this is offered in some Malaysian centres, and the Malaysian Medical Council's guideline includes HLA typing in its definition of PGT. Ask your specialist and a genetic counsellor whether it suits your family.

Does PGT-A improve the chance of having a baby?

This is the main question, and the guidelines agree more than clinic marketing suggests:

• ESHRE (2023), add-ons guideline: "Pre-implantation genetic testing for aneuploidy is currently not recommended for routine clinical use." It found limited improvement in live birth rates with current methods.
• ASRM (2024): the value of PGT-A "as a routine screening test for all patients undergoing in vitro fertilization has not been demonstrated." Recent multicentre trials found similar overall pregnancy outcomes with and without it. ASRM adds that PGT-A "may have a beneficial role" in older women, "especially those with good ovarian reserve".
• HFEA (UK regulator): for most patients, PGT-A is rated red for improving the chance of having a baby, because it often reduces the number of embryos available. It is rated green for reducing the chance of miscarriage, with the warning that fewer miscarriages do not necessarily mean more babies. For older women both ratings are grey, meaning there is not enough good evidence either way.

In short: PGT-A cannot make an embryo healthier. It can help you avoid transferring embryos that would not have worked, which may mean fewer failed transfers and miscarriages. It may also leave you with no embryo to transfer, and occasionally an embryo that could have become a baby is not used. Whether it is worthwhile depends on your age, how many embryos you have, and your history. See PGT-A explained and, if you are over 40, IVF after 40 and low AMH.

What is a "mosaic" result?

Some embryos show a mix of normal and abnormal cells. ESHRE's technical paper explains that the true level in the embryo cannot be worked out from a small biopsy, so a mosaic result is not a clear yes or no. It needs a careful discussion with your specialist and a genetic counsellor.

Should we have PGT-A after repeated miscarriages?

Not routinely. The RCOG (2023) says there are "insufficient data to support the routine use of PGT-A" for couples with unexplained recurrent miscarriage, and ASRM says definitive evidence of benefit in this group is lacking. ESHRE notes that couples with recurrent miscarriage have a good chance of conceiving naturally. PGT-SR is different: it may be discussed when tests show a parent carries a chromosome rearrangement. See tests after repeated miscarriages.

What about "whole-genome" or "polygenic" embryo tests?

Some laboratories now offer to score embryos for the risk of common, complex conditions (sometimes called PGT-P, or polygenic risk scores). ESHRE has said the clinical usefulness of these scores is "low to non-existent" and that bringing them into clinics is "highly undesirable". Genome-wide methods are already used within PGT-M to track a known family variant, but that is a different question from scoring embryos for general health.

What do Malaysian rules allow?

• PGT only for a medical reason. The Ministry of Health's National ART Policy (2021) and the Malaysian Medical Council's guideline Medically Assisted Reproduction (2025) recognise PGT-A, PGT-M and PGT-SR. Both say PGT "should only be done if it is clinically indicated", by a qualified embryologist in a certified ART centre.
• No sex selection for personal reasons. Choosing a baby's sex for social or family reasons is not allowed in Malaysia, for Malaysians or foreign patients. It is allowed only to avoid a serious sex-linked condition, such as haemophilia, Duchenne muscular dystrophy or fragile X syndrome. If you have read that sex selection is available here, that information is wrong.
• No "designer babies". Using PGT to choose physical or social characteristics is prohibited.

The National Fatwa Council ruled in 2005 that testing embryos for genetic disease is permissible (harus) for high-risk couples, with only disease-free embryos placed in the wife's womb within a valid marriage. It ruled that choosing sex is haram, except to avoid a serious genetic disease that can be fatal. The ruling speaks of genetic disease in high-risk couples and does not name PGT-A. If you have a religious question about your situation, ask your state mufti's office. See what Malaysian law allows and is IVF halal?.

Questions to ask before you decide

• What exactly would PGT answer for us, and is there a medical reason under the Malaysian rules?
• How many embryos are we likely to have to test, given my age and ovarian reserve?
• What happens if no embryo has a normal result, or if one is mosaic?
• For PGT-M: how long will the test set-up take, and will a confirmatory test in pregnancy be advised?
• Can we see a genetic counsellor?

Sources

• ESHRE, Good practice recommendations on add-ons in reproductive medicine, Human Reproduction 2023;38(11):2062–2104.
• ASRM Practice Committee, The use of preimplantation genetic testing for aneuploidy: a committee opinion, Fertility and Sterility 2024;122:421–34.
• HFEA, Pre-implantation genetic testing for aneuploidy (PGT-A), treatment add-on ratings.
• ESHRE PGT Consortium good practice recommendations, Human Reproduction Open 2020: organisation of PGT, detection of monogenic disorders and detection of structural and numerical chromosomal aberrations.
• ESHRE, Position statement on polygenic risk scores in embryo selection.
• RCOG, Recurrent Miscarriage, Green-top Guideline No. 17, 2023.
• Ministry of Health Malaysia, Clinical Practice Guidelines: Management of Thalassaemia (Second Edition), 2024.
• NHS, Thalassaemia: causes.
• Ministry of Health Malaysia, National Assisted Reproductive Technology (ART) Policy, 2021.
• Malaysian Medical Council, Medically Assisted Reproduction, 2025.
• JAKIM, Kompilasi Pandangan Hukum Muzakarah Jawatankuasa Fatwa Majlis Kebangsaan, 2015, ruling of the 67th meeting (2005).

This page is general information, not medical, genetic or religious advice.