Array-CGH testing in spontaneous abortions with normal karyotypes

Genetics and Molecular Biology

Cleide L. Borovik²  Ana Beatriz A. Perez¹  Luciana R.j. Da Silva²  Ana Cristina V. Krepischi-santos¹  Silvia S. Costa¹  Carla Rosenberg¹ 

[1],Hospital Israelita Albert Einstein Departamento de Patologia Clínica Serviço de Técnicas EspeciaisSão Paulo SP ,Brazil

关键词: spontaneous abortion;    chromosomal aberrations;    array-CGH;   

DOI  :  10.1590/S1415-47572008000300004

来源: SciELO

【 摘 要 】

In about 50% 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%) 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% 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% 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.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License