Our first experience in preimplantation genetic diagnosis.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F05%3A00014636" target="_blank" >RIV/00216224:14310/05:00014636 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Our first experience in preimplantation genetic diagnosis.
Original language description
Prevention of the birth of affected children in couples at risk for transmitting a genetic disorder is currently based on population screening and prenatal diagnosis, followed by termination of affected pregnancies. However, this is the most sensitive problem in the control of genetic disease, which is incompatible with life or not tolerated in populations and ethnic groups. Preimplantation genetic diagnosis (PGD) is a principally new approach for the prevention of genetic disorders, which allows the selection of unaffected IVF embryos for establishing pregnancies in couples at risk. PGD may be achieved by testing female gametes (polar body analysis), blastomeres from cleavage stage embryos, or blastocysts. PGD can be applied for monogenic disorders orchromosomal abnormalities, using diagnostic protocols based on the polymerase chain reaction (PCR) or fluorescence in situ hybridisation (FISH), respectively. Our genetic centre at present concentrates on chromosomal abnormalities, while
Czech name
Naše první zkušenosti s preimplantační genetickou diagnostikou
Czech description
Práce se zabývá prvními zkušenostmi pracoviště OLG FN Brno a Laboratoře molekulární cytogenetiky PřF MU s preimplantační genetickou diagnostikou při vyšetřování početních i strukturních chromozomových abnormalit a některých monogenních onemocnění (cystická fibróza).
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EI - Biotechnology and bionics
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2005
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European Journal of Human Genetics
ISSN
1018-4813
e-ISSN
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Volume of the periodical
13
Issue of the periodical within the volume
Suppl. 1
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
1
Pages from-to
268
UT code for WoS article
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EID of the result in the Scopus database
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