What single gene mutations / defects can be diagnosed with PGD?

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1 fertility expert(s) answered this question

Answer from: Raúl Olivares, MD

Gynaecologist, Medical Director & Owner Barcelona IVF
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PGS can detect any single gene mutation that can be diagnosed in the patients, that means that if we can identify where the problem is because we know the location in the chromosome, and we know the proteins that are abnormal or what the mutation is, we can study it in the embryo. Sometimes, it’s easier because if we are testing quite common diseases like cystic fibrosis, thalassaemias, muscular dystrophies, we already have the kids that allow us to test them. Even if we are dealing with a really strange or uncommon mutation, we can develop the technique, and we can identify the markers, and carry out the test on the cells of the embryo.

The only condition to detect a  genetic mutation in the embryos is that we can identify that mutation in the parents.

About this question:

What kind of mutations may be detected via PGD and what is the limitation of the technique?

Which genetic anomalies can be detected via PGD? How many diseases can PGD test for? Under what circumstances should PGD be used?

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