IBBIOTECH

Experiencia y futuro en biotecnología

Preimplantation diagnosis of the embryo

The Preimplantation Genetic Diagnosis is a tool at the service of the Medicine of the Assisted Reproduction. The DGP give us the opportunity of studying the possible chromosomal abnormalities and/or genetic of the embryo before being transferred to the mothers womb. The final objective of this technique is to try to get healthy descendant and this way try to stop the transmission of a specific illness.

You could send us the cells of your embryos from your own health centre and in very short period of time we can give you the diagnostic.

Our results are backed up by a milestone such as the first worldwide births of children free from hereditary blindness (retinoschisis) (2004), the first case using MDA of Marfan’s Syndrome (2006), among others.

Within the PGD we can distinguish two main sections, from the point of view of the diagnostic methodology and the lever of study:

Diagnosis of numeric chromosomal anomalies (study of aneuploidies of 9 chromosomes: X, Y, 13, 15, 16, 17, 18, 21, 22). These kinds of anomalies are responsible for most cases of repeated miscarriages and implantation failures. Males with a high number of aneuploid spermatozoids have a high rate of chromosomically altered embryos. So that in all those cases, a selection of the euploid embryos will achieve a successful pregnancy.
How to send your sample?.
Suffering structural chromosomal alterations (translocations, inversions…) which are balanced does not have clinical repercussions. The importance of being a carrier of a balanced structural alteration is that the oocytes or spermatozoids produced can have a chromosomal imbalance, and therefore the resulting embryo or pregnancy will inherit this imbalance, causing that the embryo does not implant, or that the pregnancy is lost or that the child is born with physical and/or mental disorders. Patients having this kind of alterations may have multiple miscarriages or may have children with lethal syndromes. Using PGD through FISH technique and using specific catheters for the chromosomes implied in the alterations, allows the selection of embryos that lack imbalances, obtaining then a successful evolutionary pregnancy.
How to send your sample?.
Preimplantation Genetic Diagnosis for diseases related to the sexual chromosomes.
How to send your sample?.
? Diagnosis for monogenic diseases:
We offer to couple sensible to PGD for monogenic diseases a comprehensive research of the family and maximize the diagnosis, in a blastomere level, in a faster way than in any other centre.

We are pioneer and worldwide reference in the technique called MDA (Multiple displacement amplification) regarding the Pre-implantational Genetic Diagnosis. The development and practice of this technique solve one of the main limitations that happen in PGD monogenic diseases which is the quantity of DNA available to carry out the diagnosis.

Nowadays the illnesses that we have already diagnosed are:
- Huntington´s Chorea
- Fragile X Syndrome
- Miotonic Distrofy
- Marfan Syndrome
- Retinoschisis
- Hemophilia
- Cystic Fibrosis
- Beta Talasemia
- Hydrocephaly
- Emery-Dreyffus
- Incontinence Pigmenti
- Acute Intermittent Porphyria
- Adrenoleucodistrophy
- Spinocerebellar Ataxia 3
- Duchenne Muscular Dystrophy
- Hypocalcemic Paralysis
- Family Angiodema
- Carney's Syndrome
- Spinal muscular atrophy type 1
- Charcot- Marie- Tooth 1
- Polycystic Kidney Disease
- Nistagmus
This list is constantly growing, since we continuously add the diagnosis for new diseases. The versatility of the equipment and personal abailable at IB Biotech give us the opprotunity to start diferent family studies of other hereditary illnesses, so we can offer a personalize service to each one of our patients.

How to send your sample?.