Genetic testing of the embryo

Analysing a few cells before transfer. What PGT-M allows, what aneuploidy screening promises, and what it delivers.

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Two tests not to confuse

Preimplantation diagnosis looks for one known abnormality in a family at established risk. Aneuploidy screening counts the chromosomes of every embryo in a couple at no particular risk, to try to pick the best. They are different exercises, with different rules and very different levels of evidence.

Preimplantation diagnosis

Couple at a round table facing a geneticist and a psychologist in a calm meeting room
In most countries, a multidisciplinary team must first give its opinion.

It is tightly regulated: most legislations allow it only where the couple carry a high risk of transmitting a serious condition that is incurable at the time of diagnosis, and after review by a multidisciplinary panel. In practice: cystic fibrosis, spinal muscular atrophy, muscular dystrophy, Huntington's disease, haemoglobinopathies, or a chromosomal translocation causing recurrent miscarriage.

The process is an ICSI cycle — ICSI is required to avoid contamination by stray sperm — followed by a biopsy of a few trophectoderm cells at blastocyst stage, then vitrification while the result is awaited. Only unaffected embryos are transferred.

Aneuploidy screening

The idea is attractive: set aside embryos with the wrong number of chromosomes, which will not implant or will miscarry. Reality is more qualified. Randomised trials show no increase in the cumulative live birth rate per collection: the good embryo is transferred sooner, but no more of them are created. Then there is mosaicism — an embryo can hold both normal and abnormal cells, and healthy children have been born from embryos graded mosaic and discarded elsewhere. Some countries allow it, others forbid it.

If it is offered, two questions are worth asking: what benefit is expected in my situation, and what happens to embryos graded mosaic?

What the law allows almost nowhere

Sex selection for social reasons is prohibited in the great majority of countries, and admitted only to avoid an X-linked disease. Selection on non-medical traits — height, eye colour, predispositions — is allowed nowhere in Europe; the polygenic scores marketed elsewhere have no demonstrated predictive value at the level of one embryo.

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Common questions

Does PGT allow choosing the sex?

No, except to avoid an X-linked disease. Social sex selection is prohibited in the great majority of countries.

Does aneuploidy screening improve my chances?

Randomised trials show no increase in cumulative births per collection. It can save time by avoiding futile transfers, but it does not create an extra embryo.

What should be done with a “mosaic” embryo?

Healthy children have been born from embryos graded mosaic. Depending on the chromosome and the proportion of cells, transfer may be discussed after genetic counselling. Ask the clinic's policy before starting.

Sources

  1. Diagnostic préimplantatoire — French Biomedicine Agency, 2025 (in French): preimplantation genetic diagnosis (PGD) reserved for a proven risk of a serious and incurable genetic disease, confirmed by a multidisciplinary centre; only unaffected embryos transferred
  2. Pre-implantation genetic testing for aneuploidy (PGT-A) — Human Fertilisation and Embryology Authority, United Kingdom (HFEA), 2023: no evidence that screening for aneuploidy increases the chances of live birth; healthy births after transfer of mosaic embryos
  3. Preimplantation genetic testing for abnormal chromosome numbers for couples undergoing in vitro fertilisation — Cochrane, 2020: review of randomised trials: no evidence of a difference in the cumulative live birth rate with or without aneuploidy screening
  4. Pre-implantation genetic testing for monogenic disorders (PGT-M) and Pre-implantation genetic testing for chromosomal structural rearrangements (PGT-SR) — Human Fertilisation and Embryology Authority, United Kingdom (HFEA), 2026: diagnosis of a known genetic disease or chromosomal rearrangement: IVF mandatory, biopsy, freezing, transfer of unaffected embryos

Official or institutional documents this page relies on, consulted on 12 October 2026. Links open in a new tab.

Content updated in .

Text written with the help of AI, under the editorial responsibility of CAPIT; human reviews are occasional (method and sources: About). This content does not replace medical or legal advice. Spotted an error? Write to us.

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