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IVF with embryo testing for thalassaemia: is it right for you? | CION Cancer Clinics
Yes, IVF with preimplantation testing, called PGD or PGT-M, can greatly lower the chance of a baby with thalassaemia major when both partners are carriers. Embryos are tested before pregnancy, and only unaffected embryos are transferred. It is costly, does not always lead to a baby, and needs both partners' exact gene changes first. This page explains the steps, the limits and the other choices open to you. At CION Cancer Clinics, our haematologist cares for anaemia, bleeding, clotting and inherited blood disorders, with ArogyaSri, CGHS and cashless insurance accepted.
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Medically reviewed by Dr. Basudev PokhrelConsultant Haematologist · last reviewed September 2026, next review due September 2027
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On this page
- Can IVF stop thalassaemia passing to our baby?
- What options do two carriers actually have?
- How does IVF with embryo testing work?
- What do the words on an embryo report mean?
- What can go wrong, and what will it cost?
- What do families get wrong about embryo testing?
- Common questions about IVF and embryo testing for thalassaemia
The short answer
Can IVF stop thalassaemia passing to our baby?
It can lower the chance a great deal, but it is not a promise. With IVF and preimplantation testing, embryos are made in a laboratory and a few cells from each are checked for the family's thalassaemia changes. Only embryos that do not have thalassaemia major are placed in the womb.
What the test is called on your paperwork
Older reports call it PGD, preimplantation genetic diagnosis. Newer reports say PGT-M, which means preimplantation genetic testing for a single-gene condition. They describe the same idea. Beta thalassaemia and sickle cell disease are two of the conditions it is most often used for.
Why couples choose it
When both partners carry a beta thalassaemia change, each pregnancy has a chance of a child with thalassaemia major. Many couples first learn this after an affected child is born. Some then face testing during a natural pregnancy, with the hard choice that follows a positive result. Preimplantation testing moves that decision to before pregnancy begins. For some families, that matters on religious or personal grounds.
Who it does not suit
It is not needed when only one partner is a carrier. It is harder when the exact gene change in either partner is not yet known, and it is a heavy path for a woman with a health condition that makes egg collection or pregnancy unsafe.
This page cannot tell you your own risk. That comes from both partners' DNA reports, read by a genetic counsellor or haematologist.Your choices
What options do two carriers actually have?
IVF with testing is one path, not the only one. Each suits a different family, and none is the right answer for everyone.
Natural pregnancy with prenatal testing
You conceive naturally. Early in pregnancy, a small sample from the placenta or the fluid around the baby is tested for thalassaemia major. If the baby is affected, you decide what to do next with your doctors.
May suit
- Couples who conceive easily
- Families who can face a decision mid-pregnancy
IVF with preimplantation testing
Embryos are tested before pregnancy starts. It avoids a decision about an ongoing pregnancy, but it costs far more, takes longer and does not always lead to a baby.
May suit
- Couples who would not end a pregnancy
- Couples who already need IVF for another reason
Donor egg or donor sperm
Using an egg or sperm from a screened donor who is not a carrier removes the chance of thalassaemia major in the child. Some couples find this acceptable. Many do not, and that is a personal decision.
Taking your chances, or adoption
Some couples choose a natural pregnancy without testing. Others choose adoption. A genetic counsellor can talk through each option with you, without pressure towards any one of them.
Not sure whether this applies to you?
Ask an oncologistStep by step
How does IVF with embryo testing work?
Find both gene changes
A carrier result on a blood test is not enough. The laboratory needs the exact DNA change in each partner. This often needs a separate DNA test, and sometimes samples from an affected child.
The lab prepares a family test
The testing laboratory designs a check for your family's particular changes before IVF begins. This preparation can take some weeks, so ask about it early.
Egg collection and embryos
The woman takes hormone injections so several eggs grow. The eggs are collected under sedation and joined with sperm in the laboratory to make embryos.
A few cells are tested
When the embryos are a few days old, a few cells are taken from the outer layer, which later forms the placenta. The embryos are usually frozen while the results come back.
An unaffected embryo is transferred
One embryo without thalassaemia major is placed in the womb. Your team will usually still offer a confirming test during the pregnancy.
On your report
What do the words on an embryo report mean?
- PGT-M or PGD
- Testing embryos for one inherited condition, such as beta thalassaemia, before one is placed in the womb.
- Blastocyst
- An embryo a few days old, with an outer layer and an inner group of cells. Cells for testing are usually taken at this stage.
- Unaffected
- The embryo did not show either parent's thalassaemia change.
- Carrier
- The embryo has one changed gene, like one of its parents. A child who is a carrier usually lives a normal, healthy life and needs no treatment.
- Affected
- The embryo has two changed genes and would be expected to have thalassaemia major. These embryos are not transferred.
- No result
- The test could not give a clear answer for that embryo. Your team will explain whether retesting is possible.
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Being straight with you
What can go wrong, and what will it cost?
The biggest limit is simple. IVF does not always work. Some rounds give few eggs. Some embryos stop growing. After testing, there may be no unaffected embryo to transfer, and a transferred embryo may not lead to a pregnancy. Many couples need more than one round.
The test itself is very reliable, not perfect
Only a few cells are tested, so a small chance of a wrong result remains. That is why most teams advise a confirming test in pregnancy. Ask the IVF centre how often they see an unclear result, and what they do when it happens.
Why age matters
A woman's age strongly affects how many eggs grow and how many embryos are healthy. The chance of success usually falls as she gets older. Your fertility doctor can give you a picture based on your own tests.
Cost and cover
IVF with embryo testing is expensive, and the family test, the embryo testing and any frozen transfer are often billed separately. Fertility treatment is often not covered by health insurance, and schemes such as Aarogyasri, PM-JAY, CGHS, ECHS and EHS generally focus on treating illness. Rules change, so check the current position for your own card. Ask for a full written estimate that lists each part.
In India, choosing an embryo by sex is illegal. Embryo testing is only for a medical condition such as thalassaemia.Commonly believed
What do families get wrong about embryo testing?
"Our carrier report from the blood test is enough to start IVF."
It is a starting point only. The embryo test needs the exact DNA change in each partner. Without it, the laboratory has nothing to look for. Get both DNA reports before you pay for an IVF round.
"A carrier embryo will grow into a sick child."
A carrier has one changed gene and usually stays healthy. Mild anaemia, meaning slightly low haemoglobin, can show on blood tests. Refusing carrier embryos leaves fewer to choose from, so talk this through before results arrive.
"Once the embryo is tested, we do not need any test in pregnancy."
Most teams still offer a confirming test in pregnancy, because a few cells cannot rule out every error. It is your choice, but make it knowing why it is offered.
"Embryo testing can find us a donor for our sick child."
Some centres can also look for tissue-type matching, so a new baby's cord blood might one day help a brother or sister. It is far more complex, fewer embryos qualify and legal rules apply. Ask a haematologist whether it fits your child at all.
Did you know
CION does not provide IVF or embryo testing. What CION's haematology team can do is read both partners' reports, explain what they mean for a pregnancy, and help you reach a qualified fertility and genetics centre with the right questions ready.
Questions we are asked
Common questions about IVF and embryo testing for thalassaemia
Is PGD for thalassaemia legal in India?
Yes, testing embryos for a serious inherited condition is permitted at registered centres. Fertility clinics and embryo testing are regulated, and using the test to choose a baby's sex is a crime. Ask the centre to show its registration, and make sure the consent forms name thalassaemia as the reason for testing.
We already have a child with thalassaemia major. Can we use this?
Yes, and your child's reports often help. The laboratory can use your child's DNA result to confirm both parents' changes. Bring your child's diagnosis, blood reports and transfusion records to the first visit. That can shorten the time needed to prepare the family test.
Does it work for sickle cell disease and alpha thalassaemia too?
Embryo testing can be designed for sickle cell disease and for many forms of alpha thalassaemia, as long as the gene changes in both partners are known. Some combinations are harder to test than others. A genetic counsellor can tell you whether your pair of changes is suitable.
How long does the whole process take?
It varies. Getting both DNA reports and preparing the family test can take some time before IVF even starts. The IVF round, embryo testing and a frozen transfer add more. Ask each centre for its own realistic timeline, and plan for the chance of a second round.
Is egg collection risky for the woman?
It is usually safe, but it is a medical procedure. The hormone injections can sometimes overstimulate the ovaries, causing bloating and pain that needs checking. A woman who is herself a carrier is generally fine, but tell the fertility team about any blood condition or heart problem before treatment starts.
What if no embryo is unaffected?
It happens, and it is hard. You may choose another IVF round, a natural pregnancy with prenatal testing, donor eggs or sperm, or a pause to think. Unaffected embryos are a matter of chance in each round. Talk to a counsellor before deciding, not in the same week as the news.
Do we both need to be tested again?
Usually yes. A carrier result from an HPLC blood test, which measures the types of haemoglobin, does not name the exact gene change. Each partner generally needs a DNA test. Keep every earlier report, because the laboratory will want to see them alongside the new ones.
Where do we start if we live outside Hyderabad?
Start with both partners' blood reports and a conversation with a haematologist or genetic counsellor. You do not need to travel for that first step. CION's haematology team can review the reports and help you reach a registered centre for DNA testing and IVF.
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Dr. Basudev Pokhrel reviews blood counts, transfusion needs and blood disorders, and works with the CION tumour board on blood cancers.
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Sources
- NHS — Thalassaemia
- NHS — IVF
- National Heart, Lung, and Blood Institute — Thalassemias
- Indian Council of Medical Research — ICMR
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
Keep reading
Related pages
Carrier Screening and Genetic CounsellingThe full guide to carrier tests for familiesBoth Partners Are Carriers: What the Odds MeanThe chance of an affected child in each pregnancyPrenatal Diagnosis for Thalassaemia and Sickle CellTesting during a natural pregnancy insteadGenetic Counselling for Haemoglobin DisordersTalking the options through before you decide
Talk to us
Both partners carriers and unsure what comes next?
Share both reports with us. Our haematology team will explain what they mean and help you reach a qualified genetics and fertility centre.