Rapid Prenatal Diagnosis of Down Syndrome Using Quantitative Fluorescent PCR in Uncultured Amniocytes
Journal of Korean Medical Science
;
: 341-344, 2004.
Artigo
em Inglês
| WPRIM
| ID: wpr-204329
ABSTRACT
Rapid prenatal diagnosis of common chromosome aneuploidies have been successful through quantitative fluoresent PCR (QF-PCR) assays and small tandem repeat (STR) markers. The purpose of our study was to investigate the clinical feasibility for rapid prenatal detection of Down syndrome using the quantitative fluorescent PCR in uncultured amniocytes. DNA was extracted from uncultured amniotic fluid of normal karyotype (n=200) and of Down syndrome (n=21). It was amplified using QF-PCR with four STR markers located on chromosome 21. Among normal samples, the ranges of diallelic peaks for at least one STR marker were 1.0-1.3 for D21S11, 1.0-1.4 for D21S1411 and 1.0-1.5 for D21S1270. Down syndrome samples showed trisomic triallelic patterns or trisomic diallelic patterns. The sensitivity, specificity, and efficiency of the assay for detecting Down syndrome were 95.4%, 100%, and 99.5%, respectively. Rapid prenatal diagnosis of Down syndrome using QF-PCR is a reliable technique that aids clinical management of pregnancy.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo Genético
/
Diagnóstico Pré-Natal
/
Fatores de Tempo
/
Cromossomos Humanos Par 21
/
DNA
/
Reação em Cadeia da Polimerase
/
Sensibilidade e Especificidade
/
Síndrome de Down
/
Sequências de Repetição em Tandem
/
Alelos
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Gravidez
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2004
Tipo de documento:
Artigo
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