Infertility is incapability to achieve pregnancy by natural way or caring it to the term.

A couple is considered infertile if:
– There is no pregnancy after 12 month of trying without protection or after 6 months for women after 35 years of age,
– Pregnancies are terminated before the term

About 15% of family couples and about 10% of individuals in reproductive age are infertile. There are many reasons for the reproductive failures. About 15% from all pregnancies are ending in spontaneous abortions as early as 12th gestational week.

– in 80% of pregnancy losses there are severe fetal anomalies based on genetic abnormalities.
– In 50-60% of these cases the leading reasons for early pregnancy losses are chromosome abnormalities.
– Leading reasons for infertility in families with genetic abnormalities are in the sex (X and Y) chromosomes.

Genetical causes for reproductive failures:

– Chromosomal abnormalities
Abnormalities in chromosome number: aneploidy, triploidi
Structural chromosome defects: translocations, inversions.
– Inherited malformations/fetal defects
Usually lethal cause in later gestational terms (after II trimester)
Defects in neural tube
Cardiovascular anomalies
Multiple malformations.
– Inherited thrombophilia in pregnant women
Predisposition for thrombosis from defects in coagulation , fibrynolisis, platelet aggregation and endothelial damage. Genetic thrombophilia are suspected for about 30% of these obstetrical complications and have been associated with early and late recurrent pregnancy loss as a result of uteroplacental microvascular thrombosis and hypoperfusion.

Indications for genetic testing and consultation:

– Two or more recurrent pregnancy losses;
– Pregnancies with fetal malformations;
– Unexplained infertility with suspected sex chromosome defects;
– IVF failures;
– Suspected inherited thrombophilia