Facioscapulohumeral muscular dystrophy and pregnancy

The city of Barcelona is news for having achieved, one of its hospitals in collaboration with a center of genetic analysis of the same city, the pregnancy after a cycle of assisted reproduction with DGP, of a free baby of the fifth known muscular dystrophy and that She is already in her 22nd week of pregnancy.

In the Reproduction Unit of the QuirĂ³n Hospital, next to the Reprogenetics laboratory, in the same city, a free gestation of a genetic disease with a dominant inheritance, such as facioscapulohumeral muscular dystrophy, has been achieved.

Below you have an index with all the points that we will discuss in this article.

Index

What is facioscapulohumeral muscular dystrophy?

Its name indicates the areas affected muscularly in order of degeneration, these being: face, shoulder blade and upper arm. Therefore, facioscapulohumeral dystrophy consists of the progressive muscular degeneration of the muscles that we have previously explained.

Of the different types of known dystrophies, this is the fifth most frequent, affecting only one in twenty thousand people, which is why it is considered a "rare" disease.

Muscular dystrophy

IVF with DGP

This gestation has been achieved in vitro, that is, by extracting the oocytes from the patient in question. These are in vitro fertilization by ICSI (intracytoplasmic sperm microinjection), which will result in a series of embryos that will be studied genetically by extracting one or two of their cells; is what is known as Preimplantation Genetic Diagnosis (PGD).

The fact of extracting a pair of embryonic cells (embryo biopsy), does not suppose any delay in the growth and division of the embryo and guarantees, in a high percentage of the cases, the genetic status of the embryo. In this way, we know which embryos have the disease and which ones do not, allowing a selection of those that are healthy and being able to transfer to the maternal womb only the non-affected ones of this genetic disease.

Because of the fact that the embryos to be transferred are genetically studied, the chances of pregnancy are not increased, since a multitude of factors are involved, and the transfer of healthy embryos can be carried out without adequate gestation. Luckily, the patient is currently in week 22 of her pregnancy, so we expect a healthy baby to be born by March of next year.

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