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Koehler U et al.  
Preimplantation Genetic Diagnosis for Monogenic Disorders and Chromosomal Rearrangements – The German Perspective

Journal für Reproduktionsmedizin und Endokrinologie - Journal of Reproductive Medicine and Endocrinology 2013; 10 (Sonderheft 1): 38-44

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Abb. 1: Polar body diagnosis for haemophilia A Abb. 2: Polar body diagnosis of haemophilia A Abb. 3: PGD for Spinal Muscular Atrophy, SMA Abb. 4: PGD for Spinal Muscular Atrophy, SMA Abb. 5: PGD for Spinal Muscular Atrophy, SMA Abb. 6: Array CGH profile Abb. 7: Array CGH profile Zum letzten Bild

Keywords: array-CGHblastocystmonogenic diseasemosaicismPGDpolar body diagnosispolymerase chain reaction (PCR)reciprocal translocationreimplantation genetic diagnosisRobertsonian translocationtrophectoderm biopsy

Since its dawn in the late 1980s, preimplantation genetic diagnosis (PGD, or präimplantationsdiagnostik, PID) has evolved into a well-established technique, which can be offered to couples at risk of transmitting a mutation or a chromosomal aberration to their offspring. Polar bodies as well as day 3 blastomeres and day 5 blastocysts (trophectoderm) can be employed for the detection of a specific gene mutation or unbalanced karyotypes. For the latter, array comparative genomic hybridisation (array CGH) has replaced fluorescence in situ hybridisation (FISH) approaches. Furthermore, as blastocysts seem to exhibit less mosaicism compared to blastomeres, current PGD protocols focus on the analysis of blastocysts, however polar body testing is still applied for maternally derived conditions. In November 2011, the German embryo protection law (ESchG) has been supplemented by §3a, which defines the conditions for the legal implementation of PGD (PräimpG) in Germany.
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