Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1-5, 2017.
Article
em Zh
| WPRIM
| ID: wpr-345337
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects.</p><p><b>METHODS</b>The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA).</p><p><b>RESULTS</b>Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA. For 93 cases, CMA has detected abnormalities in 14 cases including 10 pathogenic copy number variations (CNVs) and 4 CNVs of uncertain significance (VOUS). MLPA was able to detect all of the pathogenic CNVs and 1 VOUS CNV.</p><p><b>CONCLUSION</b>Combined use of G-banded karyotyping and MLPA is a rapid, low-cost and effective method to detect chromosomal abnormalities in fetuses with various heart malformations.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
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Testes Genéticos
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Reprodutibilidade dos Testes
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Aberrações Cromossômicas
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Bandeamento Cromossômico
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Sensibilidade e Especificidade
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Transtornos Cromossômicos
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Diagnóstico
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Variações do Número de Cópias de DNA
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Doenças Fetais
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Article