Development of a diagnostic microarray to detect aneuploidy in single cells

染色体异常约占所有先天缺陷婴儿的10%。染色体异常的风险随着母亲的年龄和生育问题的患者而增加。据估计，50%的胚胎是非整倍体。染色体畸变也发生在人类绝大多数肿瘤中。准确和快速地检测染色体缺陷是向澳大利亚公众提供的一项重要保健服务。该项目旨在开发用于产前诊断的更好的检测方法，包括对妊娠6-13周母体循环或宫颈样本中的胎儿细胞进行无创检测、试管婴儿和癌症诊断。

Chromosomal abnormalities account for about 10 per cent of all babies born with a defect. The risk of chromosomal abnormalities increases with maternal age and in patients with fertility problems. It has been estimated that 50 per cent of all embryos are aneuploid. Chromosomal aberrations also occur in the vast majority of tumours in humans. Accurate and rapid detection of chromosomal defects is an important health service delivered to the Australian public. This project aims to develop better tests for application in prenatal diagnostics including non-invasive testing of fetal cells from maternal circulation or cervical samples at 6-13 weeks gestation, IVF and cancer diagnostics.