[Prenatal diagnosis of genetic diseases]

Many severe genetic disorders can be identified in utero to offer parents the option to terminating the pregnancy und preventing the birth of an affected child. Various techniques of gaining tissues or cells for prenatal testings are available such as fetal blood or liver sampling, amniocentesis and chorionic villous sampling (CVS). The first step of the diagnosis is at the cell function level which involves the identification of accumulated or missing metabolites in amniotic fluid by chemical methods. The second step is to study the protein function, biochemical analysis of blood cells, cultured amniocytes and direct or cultured chorionic villi. The third step is the molecular genetic, the deoxyribonucleic acid (DNA) analysis in fetal cells or tissues. The recently developed first-trimester CVS procedure represents a rapid and safe diagnosis in utero.