[An analysis of the causes for the occurrence of Down's syndrome and the current approaches to its prevention at the stage of mass prenatal ultrasonic and immunobiochemical screening of pregnant women].

Problems of prenatal complex diagnosis of Down's syndrome are considered. The levels of alpha-fetoprotein in blood serum of pregnant women should be studied in the optimum terms (17-19 weeks of pregnancy). The assessment of several immuno-biochemical markers is most important for diagnosis.

[Genetic counseling and ultrasonographic prenatal diagnosis of skeletal dysplasias in monogenic and chromosomal syndromes].

The paper reports sonographic prenatal diagnosis of monogenic and chromosomal syndromes (congenital malformations) which are associated with skeletal abnormalities: autosomal recessive syndromes (shortribs--polydactyly, type II; dyssegmental dwarfism, type II; Pen-Shokeir disease type I), autosomal dominant syndromes (Larsen's syndrome, achondroplasia, Schmidt's metaphyseal dysplasia of segregating partial chromosome of 7 long-arm trisomy). All cases were detected in the second trimester; diagnosis of chromosomal diseases employed the amniocentesis. In aborted pregnancies, diagnoses were confirmed at autopsy.