We have a Genetic Risk Unit for gynaecological or breast cancer run by Clinical Genetics specialists that offer genetic risk tests. The information on risk of cancer will help make the most appropriate decisions.
Genetics and Clinical Analysis
One out of every 100 children is born with a genetic disease they get from their parents. If both members of a couple are carriers of a recessive genetic disease (*), there’s a 25% chance that their child will also have it. Spinal muscular atrophy, cystic fibrosis, thalassemia or certain forms of multicystic dysplastic kidney are some examples.
* A blood test can help identify genes that cause over 200 different diseases before the parents have their future child. If they were to be carriers, they’d receive information on the chances of transmitting the disease and ways to avoid it.
Nowadays, we can diagnose chromosome abnormalities in the foetus through a simple blood test.
It can be done from the tenth week of pregnancy and can not only detect trisomies (like Down syndrome, Edwards syndrome, Patau syndrome, trisomy 16, trisomy 22) and sex chromosome alterations (Turner syndrome, Klinefelter syndrome, Triple C syndrome), but also chromosomal deletions such as DiGeorge syndrome (22q) Cri du chat syndrome (5p), 1p36 deletion syndrome, Prader–Willi syndrome, Angelman syndrome (15q) and many others.
All without the risks of invasive tests such as Amniocentesis or Chorionic villus sampling.
If you’re pregnant, ask for a consultation.