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
de Zh
| WPRIM
| ID: wpr-345337
Bibliothèque responsable:
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>
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Diagnostic prénatal
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Dépistage génétique
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Reproductibilité des résultats
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Aberrations des chromosomes
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Zébrage chromosomique
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Sensibilité et spécificité
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Maladies chromosomiques
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Diagnostic
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Variations de nombre de copies de segment d'ADN
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Maladies foetales
Type d'étude:
Diagnostic_studies
/
Prognostic_studies
Limites du sujet:
Female
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Humans
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Pregnancy
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2017
Type:
Article