Abstract

In prenatal diagnosis, array CGH has several advantages more than traditional chromosomal analysis. It can detect all of aneuploidies, deletions, duplications and unbalanced structural rearrangements of chromosomes with higher resolution, avoidance of culturing amniocytes or chorionic villi, automation, and faster turnaround times. But array CGH has high cost, inability to detect balanced inversions or translocations as well as polyploidy and mosaicism below 20%. Array CGH can identify marker chromosomes and copy number variants (CNVs) of chromosomes but many of them have uncertain clinical significance. So that in prenatal diagnosis array CGH is indicated in the following cases : (1) abnormal fetal ultrasound findings; (2) suspected chromosome imbalances; (3) had children with abnormal chromosomes (4) parents with chromosome balances; (5) advanced maternal age.

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