Prenatal diagnosis is concerned with determining the health condition of the unborn child. Main objectives of the prenatal diagnosis are: to establish whether there are abnormalities during pregnancy; plan the treatment in case of abnormalities; resolve any doubts in cases of families where there is a history of certain genetic diseases and confirm that the fetus in question is a healthy one. There are numerous indications for prenatal diagnosis. Major indications are: age of mother > 35 or 37 years, chromosomal abnormalities in family, chromosomal abnormalities in previously born child or the parents, multiple malformations in the previously born children; abnormalities detected by ultrasound, a positive result of combined screening etc. Prenatal diagnosis provides methods of screening as well as diagnostic methods. Methods of screening include ultrasound screening, triple screen, quadruple test etc. Invasive diagnostic methods include amniocentesis, chorionic villus biopsy and cordocentesis. If the screening indicates a huge risk of a specific abnormality, further testing should be done with the help of invasive diagnostic methods (in consultation with a doctor). Samples obtained by means of these methods undergo further analysis: cytogenetic, molecular, biochemical, hematological etc. Results obtained by prenatal diagnosis allow us establishing further fetal therapy. Due to the development of technology increasing number of diseases can be treated in utero.