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The first experience of prenatal successful diagnosis of 22q11.2 deletion
syndrome

Two cases of prenatal diagnosis of a deletion syndrome 22q11.2 are presented. They are includes the cardiovascular defects in combination with hypoplasia of the thymus. In first case the pregnancy was aborted due
to the heart disease, adverse for life (aortic arch interruption). In second case (right aorta arch and left aberrant
subclavial artery) the pregnancy was prolonged, the chromosomal pathology was diagnosed at the age of 3 months.
Modern data on clinic, diagnosis and outcome of a syndrome at the fetus, children and adults are analyzed. The
possibility of the aim prenatal diagnosis of syndrome on the basis of the characteristic conotruncal abnormalities
in combination with hypoplasia of thymus is presented.