New scientific publication in “Human Fertility”

  • 14-08-2013

Instituto Bernabeu's latest research work has recently been published in "Human Fertility" (one of the international scientific journals with the highest impact factor).

This article is a clear example of our medical team's efforts to customise the study for each couple that comes to our clinic searching for a solution to their fertility problem, more specifically to our  Implantation failure and repeated miscarriage unit | Instituto Bernabeu

The publication describes a couple's case study that has been carried out to find out the origin of their repeated miscarriages. These patients were able to gestate naturally but could not achieve a full-term pregnancy, and if the pregnancy progressed up to the second quarter, it caused foetuses with malformations.

The cytogenetic study (karyotype in amniocytes) of one of the pregnancies gave us the trail to the origin of the problem. The male suffered a translocation; this means that in his karyotype an abnormal rearrangement of the genetic material was observed which affected his fertility because it was causing unviable pregnancies (abortions or malformations).

What is new in this case is that the translocation involves 3 chromosomes (chromosomes number 5, 15 and 18) and not 2 as usual. Triple translocations are very uncommon and often wrongly diagnosed.

For this couple, the solution to achieve a viable pregnancy will be to have an IVF cycle and to analyse the embryos' chromosome dotation through Array-CGH.

This scientific work confirms that customisation and personalisation of the couple's fertility study is the only way to success in assisted reproduction treatments.

See publication.

See our "Research & Development" section.

Characterization of a balanced complex chromosomal rearrangement carrier ascertained through a fetus with dup15q26.3 and del5p15.33: case report