[New options in prenatal and preimplantation diagnosis of genetic disorders].
During recent years the progress with the most important practical impact in prenatal diagnosis has been the implementation of first trimester risk screening for common aneuploidies leading to a much improved identification of pregnancies at risk. Molecular methods for a rapid, cost-effective, but selective aneuploidy diagnosis such as interphase FISH or QF-PCR have been around for years, do have their specific indications, but will unlikely replace conventional cytogenetic tools in routine diagnosis. They apparently do also play a role as marketing instruments in the competition among cytogenetic laboratories. The most thrilling issue for all cytogeneticists in the years to come will be the introduction of array-based methods in the prenatal routine diagnosis of chromosomal abnormalities. Polar body diagnosis has been the only option available for preimplantation genetic diagnosis in german speaking countries. The overwhelming majority of all professionals involved and many families concerned share the hope that the legal situation will improve in these countries to allow the examination of early embryos in high risk situations.
Miny
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Abteilung Medizinische Genetik, Departement Klinisch-Biologische Wissenschaften, Universitäts-Kinderspital beider Basel (UKBB) und Universitäts-Frauenspital Basel, Schweiz. Peter.Miny@unibas.ch
De Geyter
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Holzgreve
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D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D008403:Mass Screening / Q000379:methods* / Q000639:trends*; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods* / Q000639:trends*; D011296:Prenatal Diagnosis / Q000379:methods* / Q000639:trends*