Infertility and genetic diseases

What is it?

Genetic diseases are divided into: chromosomal aneuploidies, monogenic diseases and structural genetic alterations. Some pathologies, interfering with male and female gametogenesis, are able to compromise reproductive function. The incidence of chromosomal abnormalities associated with infertility is 6%, of which 75% occur on sex chromosomes and 25% autosomal cases of genetic abnormalities.

Which are the symptoms?

Alterations in reproductive function due to genetic causes have variable clinical manifestations in relation to the type of abnormalities. The clinical pictures, ranging from infertility to polyabortion, are often difficult to diagnose because they do not necessarily provoke phenotypic effects on the individual carrier and frequently the genetic damage is found at the time when a couple wants a pregnancy. 

  • infertility   
  • primary amenorrhea   
  • reduced ovarian reserve   
  • early menopause   
  • severe oligoasthenozoospermia   
  • repeated implantation failures   
  • recurrent pregnancy loss    

How is it diagnosed?

The genetic investigation that is carried out on adults to make a diagnosis of genetic disease includes the execution of karyotype (chromosomal mapping, molecular analysis - PCR) and, if necessary, the execution of gene probes (personalized study essential to make the preimplantation genetic diagnosis of the specific genetic disease or genetic alteration of which the couple is a carrier, both on peripheral blood).  

How is it treated?

In order to reduce the influence of such pathologies on the reproductive sphere, it is possible to propose to couples an assisted fertilization treatment with pre-implantation diagnosis.

Suggested procedures

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