title: [Genetic testing in pregnancy].
abstract: First trimester risk screening is probably the major methodological advance in identifying pregnancies at increased risk for genetic disease during recent years with an impact on all pregnancies. The high detection rate with moderate false positive rates will reduce the over-all number of invasive procedures as compared to the traditional approach based on maternal age exclusively, in particular considering the demographic shift towards higher mean maternal age. Non-invasive prenatal diagnosis from fetal cells or DNA in the maternal circulation remains an experimental approach, despite a growing number of reports on successful diagnoses of single gene disorders. In the lab molecular cytogenetic approaches have considerably broadened the diagnostic spectrum of conventional karyotyping and facilitated a rapid diagnosis of selected frequent aneuploidies. Molecular genetic testing, in particular on chorionic villi, allows an early and reliable diagnosis of a growing number of severe monogenic conditions. A restrictive legislation has hampered the development of preimplantation genetic diagnosis in German speaking countries, only a few groups work on polar body diagnosis, a legal but restricted alternative.
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000782:Aneuploidy; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D003582:Cytogenetics; D005260:Female; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008423:Maternal Age; D009154:Mutation; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D012307:Risk Factors; D016216:Ultrasonography, Prenatal