CION Cancer Clinics
PGT-M: testing embryos for a family gene fault | CION Cancer Clinics
PGT-M is a test done on embryos during IVF to check for one gene fault already known to run in your family. Only embryos without that fault are placed in the womb. It lets a carrier have a biological child without passing the fault on. It also needs IVF even for fertile couples, it is costly, and it is not a promise of a pregnancy. This page explains how it works and who it suits. At CION Cancer Clinics, our team helps carriers and their families plan checks, next steps and support after a genetic result.
The short answer
What is PGT-M, in plain words?
PGT-M is a test done on embryos made through IVF, to check each one for a single gene fault that is already known to run in your family. Only embryos that do not carry the fault are offered for transfer to the womb. The letters stand for preimplantation genetic testing for monogenic conditions, meaning conditions caused by one gene.
Why it needs IVF, even if you can conceive easily
The test has to be done before a pregnancy begins, on an embryo growing in a laboratory dish. That is only possible if eggs and sperm are brought together outside the body. So a couple with no fertility problem at all still goes through the injections, the egg collection and the laboratory stages of IVF. This is the part most families do not expect.
What it looks for, and what it does not
PGT-M looks for one named fault, the exact change already found in your family. It is not a general health check of the embryo and it cannot pick out every possible illness. It also cannot remove a fault from an embryo. It can only help you choose between embryos that already exist.
The family fault must be confirmed first. Without an exact, known change, there is nothing for the laboratory to look for.Who it is for
Who is PGT-M actually for?
A small group of couples. Most carriers of a cancer gene fault never use it, and that is a sound decision.
A carrier of a confirmed family fault
One partner carries a fault classed as disease-causing, such as a BRCA or Lynch syndrome fault, and wants to avoid passing it on. Each child conceived naturally would have a one in two chance of inheriting it.
Couples who both carry a fault in the same gene
This happens more often when partners are related by blood, which is common in parts of South India. If both carry a fault in certain genes, a child who inherits both copies can have a serious childhood condition. PGT-M can matter most here.
Couples who would not test a pregnancy
Some families would never consider ending a pregnancy. Testing before pregnancy begins lets them make the choice at the embryo stage instead.
Often also true
- Already planning IVF for another reason
- Have seen the cancer at close quarters
- Can plan and fund more than one attempt
Who it does not suit
Anyone whose report shows only a variant of uncertain significance, meaning a change nobody yet knows is harmful. Also anyone with no confirmed family fault, or anyone who cannot face repeated IVF. For most carriers, natural conception remains a fully legitimate choice.
Not sure whether this applies to you?
Ask an oncologistFrom first visit to transfer
What happens, step by step?
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Counselling and confirming the fault
A genetic counsellor checks the report, confirms the exact change and talks through every option, including not using PGT-M at all.
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Building a test for your family
The laboratory designs a test for your specific fault, often using blood samples from both partners and sometimes a relative. This set-up stage can take several weeks.
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Hormone injections and egg collection
The woman has daily injections for around two weeks to grow several eggs, then a short procedure under sedation to collect them.
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Fertilisation and growing the embryos
Each egg is usually injected with a single sperm. The embryos grow in the laboratory for about five or six days.
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Biopsy and testing
A few cells are taken from the outer layer of each embryo, the part that later forms the placenta. The embryos are frozen while the cells are tested.
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Transfer of an unaffected embryo
In a later month, one embryo without the family fault is thawed and placed in the womb. A pregnancy test follows about two weeks later.
On your paperwork
The words the fertility clinic will use
- IVF
- In vitro fertilisation. Eggs and sperm are joined in a laboratory dish rather than inside the body.
- ICSI
- A single sperm injected directly into each egg. It is usually used with PGT-M so that no stray sperm confuses the test.
- Blastocyst
- An embryo that has grown for about five or six days. This is the usual stage for the biopsy.
- Embryo biopsy
- Removing a few cells from the embryo's outer layer for testing. The inner cells, which become the baby, are left alone.
- Unaffected embryo
- An embryo in which the family fault was not found. It is the only kind offered for transfer.
- PGT-A
- A different test that counts chromosomes. It is sometimes offered alongside PGT-M, and it is a separate decision with a separate cost.
Side by side
PGT-M or testing during pregnancy: how do they differ?
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Being straight with you
What this page cannot tell you
It cannot tell you whether PGT-M is right for your family. That depends on the exact fault, how it behaves in your family, the woman's age, and what the couple can bear emotionally and financially. A genetic counsellor and a fertility specialist answer that together, ideally in the same conversation.
It cannot tell you whether your fault qualifies
A test can only be built for a change classed as disease-causing. What your specific variant means is a question for the counsellor who ordered the test, not for a search engine. Bring the full report, not a photograph of the first page.
It cannot promise a baby
Some attempts end with no unaffected embryo to transfer, and some transfers do not lead to a pregnancy. The test is also very accurate but not perfect, which is why many clinics offer a confirming test during pregnancy. Studies of children born after embryo testing are reassuring so far, but long-term follow-up is still limited.
Most carriers of a cancer gene fault never use PGT-M. Deciding against it is as legitimate as choosing it.Commonly believed
Four things couples assume about embryo testing
It does not change a single gene. It only tests embryos that already exist for one known family fault. Choosing an embryo by sex is illegal in India, and no reputable clinic will offer it.
The child will not carry the family fault, so their risk drops to roughly that of anyone else. Ordinary cancers that build up over a lifetime can still happen, as they can to anyone.
Often it is not. Some embryos stop growing, around half may carry the fault, and not every transfer works. Many couples need more than one attempt, so it helps to plan for that from the start.
A man carries and passes on a fault in exactly the same way. PGT-M works whichever partner carries the fault, and the laboratory needs samples from both.
Questions we are asked
Common questions about PGT-M
Can PGT-M be done for BRCA or Lynch syndrome faults?
Technically, yes, once the exact family fault is confirmed. Whether a clinic will offer it for a cancer risk that starts in adult life is a separate question. Clinics weigh this case by case, so ask in writing before you begin.
Does the biopsy harm the embryo?
The cells come from the outer layer that forms the placenta, not from the part that becomes the baby. A small number of embryos may not survive the biopsy or freezing. Your clinic can tell you how often this happens in its own laboratory.
How long does the whole process take?
From the first counselling visit to an embryo transfer usually takes a few months. Designing the family-specific test often takes the longest. Planning around surgery, treatment or the woman's age can change the timing, so start the conversation early.
Do both partners need to give samples?
Usually, yes. Blood samples from both partners help the laboratory build and check the test. Sometimes a sample from a parent or an affected relative is also needed, which is worth arranging early if that relative lives in another district.
Will I still need a test during pregnancy?
It is often offered, because embryo testing is very accurate but not perfect. Many couples accept a confirming test, and some decline it. Either is reasonable, and the choice is yours to make with your obstetrician.
What happens to embryos that carry the fault?
They are not transferred. Couples usually decide in advance whether such embryos are discarded, kept frozen or donated for research where that is permitted. You will sign a consent form covering this before treatment begins.
Is PGT-M available in Hyderabad?
Yes. Several registered fertility clinics in the city work with laboratories that design family-specific tests. A genetic counsellor can explain what to ask when you compare clinics, including who designs the test and where the testing is done.
Where do I start if I am thinking about it?
Start with genetic counselling, before the fertility clinic. Bring the report that confirmed the family fault. Call the CION helpline if you are not sure who to see, and we will point you to the right counsellor.
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
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Sources
- Human Fertilisation and Embryology Authority — Pre-implantation genetic testing for monogenic disorders (PGT-M) and Pre-implantation genetic testing for chromosomal structural rearrangements (PGT-SR)
- NHS — IVF
- PRS Legislative Research — The Assisted Reproductive Technology (Regulation) Bill, 2020
- National Cancer Institute — Genetic Testing for Inherited Cancer Susceptibility Syndromes
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.
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Wondering whether embryo testing makes sense for you?
Tell us which fault runs in your family and what you are hoping for. We will arrange genetic counselling that sets out every option honestly, including not testing at all. One helpline serves every CION centre.