Application of chromosomal karyotyping analysis and array CGH for fetal abnormalities detected by ultrasonography / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 550-553, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-335085
ABSTRACT
<p><b>OBJECTIVE</b>To assess the value of chromosomal karyotyping and array-based comparative genomic hybridization for the diagnosis of fetus with abnormalities detected by ultrasonography.</p><p><b>METHODS</b>Umbilical cord blood samples were derived from 1 603 pregnant women. The samples were cultured for routine G-banding karyotype analysis. Among these, 792 samples have further subjected to array CGH analysis.</p><p><b>RESULTS</b>Among the 1 603 fetuses, 117 (7.30%) were found with chromosomal abnormalities. These included 72 numerical aberrations and 45 structural abnormalities, which respectively accounted for 4.49% and 2.81% of all cases. For those <35 years and ≥ 35 years, a significant difference has been found in terms of fetal chromosomal abnormalities (chi-square is 30.687, P< 0.01). And there was also a significant difference between those with isolated, two or multiple ultrasonographic markers (chi-square is 85.50, P< 0.01). Among 736 fetuses with a normal karyotype, array CGH has detected 17 (2.31%) with a microdeletion or microduplication.</p><p><b>CONCLUSION</b>Karyotype analysis and array CGH should be offered to all fetuses with ultrasonography detected anomalies regardless the number of markers.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Anormalidades Congênitas
/
Ultrassonografia Pré-Natal
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Aberrações Cromossômicas
/
Transtornos Cromossômicos
/
Diagnóstico
/
Hibridização Genômica Comparativa
/
Feto
/
Genética
/
Cariotipagem
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Adulto
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo
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