12 November 2014

New genetic testing is developed to detect and prevent transmission of more than 600 hereditary diseases pre pregnancy

New genetic testing is developed to detect and prevent transmission of more than 600 hereditary diseases pre pregnancy

Internationally renowned fertility clinic IVI have introduced a test that can identify in advance of pregnancy, the likelihood of a couple having a child with a genetic disease, ensuring that children conceived both naturally and through assisted reproduction are free from these diseases.

At present, approximately 1 in 300 babies are born with a genetic disorder however, the use of this test is proven to dramatically reduce this figure to 1 in 30,000.

It is normal for healthy adults to carry between 6-15 genetic alterations. In many cases these adults will look and feel completely healthy showing no signs of illness however, if both parents are carriers of the same genetic mutation then it can result in their children being born with a life limiting genetic disease.
To minimize this risk, the new IVI Compatibility Genetic Test is designed to detect potential problems before pregnancy by obtaining information from both parents about a range of potential mutations from a total of 552 genes.

The test screens all mutations recommended by gynaecological and genetics bodies, covering a wide range of disorders that can be caused by a total of 552 genes including Cystic Fibrosis, Spinal Muscular Atrophy and Autosomal Recessive Polycystic Kidneys. The test is not able to cover diseases of complex inheritance such as Autism, Asthma and Diabetes.
Although the test is incredibly comprehensive and the most advanced of its kind, there is still a residual risk that parents are carriers of more obscure mutations that are unable to be analysed and therefore would not be detected.

After carrying out a simple blood test on both parents to determine their DNA sequence the expert IVI team will then run both extensive analysis to determine any possible mutation candidates.

The comprehensive test can be carried out on all parents who hope to conceive through assisted reproduction however, it is important to note that the process differs between those who are using their own gametes (egg and sperm) and those using donated gametes:

  • Own Gametes: If a couple receives a positive result for the same mutated gene then they will have the option of undergoing Preimplantational Genetic Diagnosis before the embryo is implanted to check cells from selected embryos created through IVF treatment to ensure that they are free from the defective genes.
  • Donated Gametes: When the couple is the recipient of a gamete donation (for either one of both of the parents), then the new genetic compatibility test will prevent the crossing of gametes with a risk to a particular gene, thus ensuring the baby is born without any genetic disorders.

Antonio Requena, medical director of IVI Group comments on the development of the CGT: “Currently, diseases caused by the alteration of specific genes are present in 1 in every 300 new-borns. Our objective with this new CGT test, which screens for a wide range of mutations, is to significantly reduce a couple’s risk of having a child with any type of genetic disease.

The CGT test enables multiple genes or mutations to be analysed simultaneously and cost-effectively, and for the first time it is possible to set up screening programmes for a large number of monogenic diseases or serious diseases caused by the alteration of a gene. In this way, we are able to prevent a disease from appearing, both in children conceived naturally and those conceived through assisted reproduction techniques which is a fantastic development, and a big step forward for the fertility industry”


  • Ricardo Pedrós
  • Lucía Renau
  • Email: prensa@ivi.es
  • Phone number: (0034) 96 317 36 10
  • Calle Colón, 1 - 46004 (Valencia)


Last update
February 2020

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