Genetic compatibility analysis – also referred to as genetic matching – is a prevention test which permits examination of 363 hereditary, 332 autosomal recessive and 31 X-linked genetic diseases. The assessment also discovers serious prevalent and rare diseases which exist in one out of every 100,000 births.
A genetic test can be performed on both members of the couple if they both contribute their gametes, or alternatively a donor who contributes eggs and/or sperm and the recipient.
In what cases can a genetic compatibility test be performed?
- Couples attempting to conceive naturally who want to know the risk of transmitting certain diseases.
- Patients with a family history of genetic disease.
- Patients set to undergo assisted human reproduction treatment and wish to reduce the risk of genetic disease.
- Patients set to undergo assisted human reproduction treatment using a donor and wish to select a suitable candidate in order to lower the chances of genetic disease. In this particular case, the donor and recipient will be analysed.
What happens if any incompatibility is detected?
In cases of high genetic risk, assisted human reproduction treatments in in vitro fertilisation and preimplantation genetic diagnosis (PGD) are required to select the healthiest embryos, while genetic counselling is also compulsory. In certain cases, a sperm or egg donor may be used.
In relation to donors, if the result is not absolute, the donor will be substituted in order to minimise the risk of genetic disease. It is important to bear in mind that while the risk is minimised upon test completion, it is never completely eliminated as ‘de novo’ mutations may arise or genetic disease unidentifiable during analysis may exist.
Certain patient groups which may have a higher percentage of chromosomally-altered sperm include:
- Patients with seminal alterations: a low sperm count (oligozoospermia), inactivity (asthenozoospermia), or altered morphology (teratozoospermia) may suggest genetic alterations in sperm.
- Patients with altered meiosis: when meiosis (the process of sperm formation) is not executed correctly, it can lead to chromosomally-altered sperm. The study of meiosis is carried out by means of an outpatient test: testicular biopsy.
- Patients with repeated miscarriages: when two or more miscarriages are induced spontaneously, it may be a symptom of genetic alteration.
- Patients with failures in IVF (in vitro fertilisation).