Genetic testing of the embryo

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

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

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.

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