Naše první zkušenosti s preimplantační genetickou diagnostikou

Kód výsledku v 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>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Our first experience in preimplantation genetic diagnosis.

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

Our first experience in preimplantation genetic diagnosis.

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EI - Biotechnologie a bionika

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2005

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

European Journal of Human Genetics

ISSN

1018-4813

e-ISSN

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Svazek periodika

13

Číslo periodika v rámci svazku

Suppl. 1

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

1

Strana od-do

268

Kód UT WoS článku

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EID výsledku v databázi Scopus

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