Abstract

SALDARRIAGA-GIL, Wilmar. From microscopic chromosome observation in karyotyping to array-CGH in prenatal diagnosis. Rev Colomb Obstet Ginecol [online]. 2013, vol.64, n.3, pp.327-332. ISSN 0034-7434.

Introduction: Karyotyping has been the gold standard for chromosomal analysis in prenatal diagnosis over the past 40 years. However, many articles and the first meta-analysis on the potential advantages of array-CGH (array comparative genomic hybridization) compared to karyotyping in prenatal diagnosis began to appear in 2011. Objective: The objective of this article is to examine the use of array-CGH in prenatal diagnosis, and to show certain potential advantages and disadvantages of this molecular test over karyotyping, as well as its application by obstetricians, perinatologists and specialists in maternal-fetal medicine. Conclusion: Array-CGH is a new option for chromosomal analysis in prenatal diagnosis of fetuses with anatomical abnormalities; it maybe used in all instances where an invasive intervention is warranted in the prenatal diagnosis of chromosomal abnormalities, and it may eventually replace karyotyping in prenatal diagnosis before this decade is out.

Keywords : Prenatal diagnosis; array-CGH; karyotyping.

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