Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA.
Prenat Diagn
; 32(4): 383-8, 2012 Apr.
Article
em En
| MEDLINE
| ID: mdl-22025315
ABSTRACT
OBJECTIVE:
To compare results of array comparative genomic hybridization (CGH) on cell-free fetal (cff) DNA from amniotic fluid supernatant and DNA from cultured amniocytes in high-risk pregnancies.METHOD:
We selected 48 cases of high-risk pregnancies (in utero growth retardation [IUGR] and/or at least two fetal malformations [polymalformation]). Bacterial artificial chromosome array CGH (BlueGnome) was performed on 38 fetal samples (frozen cff DNA and DNA from cultured cells) with previously normal karyotypes.RESULTS:
From the 38 specimens, we obtained an adequate amount of sufficient quality DNA with a better quality profile using cff DNA compared to cellular DNA. Aberrations of clinical relevance were detected in three fetuses, and copy number variations considered as benign polymorphism were detected in one case using both sources of DNA. This results in an 8% detection rate of significant abnormalities in high-risk pregnancies with a normal karyotype using array CGH (two cases with IUGR, one with polymalformation).CONCLUSION:
These findings indicate the possibility of using cff DNA from amniotic fluid supernatant for array CGH with excellent results, even in late pregnancy when culture is no longer available. In this small series, pathogenic copy number variations are detected more often in the presence of IUGR than with polymalformation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Hibridização Genômica Comparativa
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Variações do Número de Cópias de DNA
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Retardo do Crescimento Fetal
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Amniocentese
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
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Observational_studies
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Risk_factors_studies
Limite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
França