PGD for Chromosomal Rearrangements

First consultation

Not all chromosomal rearrangements can be analysed. In order to be able to study the rearrangement and to optimize and validate the specific probes that will be used (PGD set up). The PGD set up will tell us if PGD is possible. Please forward the following information to the Genetics Department at Institut Marquès:

  • The karyotype of the person carrying the rearrangement. Please attach the completed sheet that appear in Annex 2 (Request for patient information regarding chromosomal rearrangements) The information should be sent by email or fax:

+34 93 205 48 29

The set up study

Prior to starting an IVF cycle with PGD for a chromosomal rearrangement it is necessary to complete an PGD Set up study.

Set up studies are NOT necessary for Robertsonian translocations.

In order to complete this study it is necessary please send to the Genetics Laboratory at Institut Marquès:

  • A culture of venous blood. Your centre must take the sample and send it to the Genetics Laboratory at Intitut Marquès in a specimen carrier with the extension of chromosomal metaphases from peripheral blood cells. In order to facilitate this, request form to enable the laboratory to complete the blood test for the patients.

Once the PGD set up has been completed, the Genetics Laboratory at Institut Marquès will get in touch with your Centre to advise you that it will be possible to start the fertility treatment cycle.

In some cases it is possible to study both the incidence of aneuploidy and the chromosomes involved in the translocation, in order to exclude an inter-chromosomal effect. Please discuss each case with the Genetics Laboratory at Institut Marquès in order to find out more about this possibility.

Contact the Genetics Laboratory at Institut Marquès

  1. Prior to starting treatment, to outline the case (via telephone or email)
  2. When the date of egg collection is confirmed (via telephone or email)
  3. If the cycle is cancelled (via telephone or email)

+34 93 280 40 28
+34 666 58 21 41

Day+0 – the day of egg collection under ultrasound guidance: Inform the Genetics Laboratory at Insttitut Marquès at

Day+3 – Embryo biopsy: Staff from the Genetics Laboratory at Institut Marquès can come to your centre to complete the embryo biopsy, or the blastomeres can be sent already fixed to the Genetics Laboratory at Institut Marquès.

Sending samples:

  • Put the glass microscopy slide containing the fixed nuclei within a rigid slide mailer box. Wrap this in plastic bubblewrap paper, and then place it in the protective courrier container.
  • Prepare the following documents:-  Request form for Preimplantation Genetic Diagnosis (PGD).- Instructions for blastomere fixation in embryos prior to PGD for aneuploidy screening and chromosomal rearrangements.
  • Send via email the name of the courier service used, and the number/code of the package to
  • Send via courier to:


Discuss the timing of the results with the Genetics Laboratory at Institut Marquès prior to organising embryo transfer.

Once the results are obtained these will be sent by encrypted email.