Array-CGH testing in spontaneous abortions with normal karyotypes
Genet. mol. biol
;
31(2): 416-422, 2008. graf, tab
Article
Dans Anglais
| LILACS
| ID: lil-484976
ABSTRACT
In about 50 percent of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short- and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytogenetic abnormalities (numerical and structural) were detected in 22 (44.89 percent) specimens. Subsequent, array-CGH based on large insert clones spaced at ~1 Mb intervals over the whole genome was used in 17 cases with normal G-banding karyotype. This revealed chromosome aneuplodies in three additional cases, giving a final total of 51 percent cases in which an abnormal karyotype was detected. In keeping with other recently published works, this study shows that array-CGH detects abnormalities in a further ~10 percent of spontaneous abortion specimens considered to be normal using standard cytogenetic methods. As such, array-CGH technique may present a suitable complementary test to cytogenetic analysis in cases with a normal karyotype.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
langue:
Anglais
Texte intégral:
Genet. mol. biol
Thème du journal:
Génétique
Année:
2008
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Centro de Medicina Genética/BR
/
Hospital Israelita Albert Einstein/BR
/
Universidade de São Paulo/BR
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