Pregnancy in spite of translocation

A couple with reciprocal translocation has achieved pregnancy after undergoing a Pre-implantation Genetic Diagnosis (PGD).

For couples with balanced reciprocal translocation, choosing a healthy, genetically balanced embryo to be able to have children is very important, as was shown by a recent study published in the scientific journal Fertility and Sterility. This selection is possible thanks to Pre-implantation Genetic Diagnosis (PGD).

Embryo selection in couple with translocation

After repeated miscarriages and being diagnosed with secondary infertility, a couple of first cousins –she was 26 and he, 35– has achieved a twin pregnancy after undergoing a PGD in a cycle of in vitro fertilisation.

Carriers of balanced reciprocal translocation find it hard to produce healthy or balanced gametes. Currently, choosing chromosomally normal embryos fertilised by means of IVF is possible thanks to PGD. These embryos will be later inserted into the maternal uterus in order to carry pregnancy to term.

The whole process of IVF with PGD was carried out as follows: firstly, the woman underwent follicular puncture, in which 25 oocytes were removed, of which 15 were fertilised. Later, the embryos were left in a culture medium growing until day 3, when an embryo biopsy was performed. The biopsy determined that only one of them was genetically adequate, that is to say, it was going to develop normally. The result of the whole process, after the embryo transfer to the uterus and a positive pregnancy test, was a pregnancy of monozygotic or identical twins. The twins were born at week 36 of pregnancy. Now they are 4 years old and completely healthy.

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