Improving first trimester screening by combining rapid MF-PCR of PAP smears with nuchal ultrasound scanning

点击翻译按钮获取中文摘要

Genetic defects are the major cause of embryonic and foetal death as well as being responsible for a large proportion of childhood disabilities. Although many are detected by the ~50,000 prenatal tests currently performed annually in Australia, these methods are only offered to high risk mothers because they are invasive (~1% risk of miscarriage), and-or expensive. A rapid, low cost, less invasive and safer alternative prenatal diagnostic method such as PAP smears that could be offered to all mothers regardless of risk is therefore of immense value both to mothers and to the health care system. This proposal enhances first trimester screening by improving prenatal diagnosis from PAP smears. Although normally taken to detect cancer, these smears contain significant numbers of foetal cells. We will investigate: the best way and time to obtain these cells, the best way to remove the cells from any contamination, improvements in genetic diagnosis of these cells using a technique known as MF-PCR which is rapidly revolutionising conventional prenatal diagnosis. By automating these procedures, they will become less expensive and more accessible to all mothers regardless of risk. We will also compare these procedures with alternative first trimester screening techniques such as nuchal translucency to determine the value of both tests singly and in combination. This research should provide a safe, reliable and accurate method allowing inexpensive prenatal screening to be available for all pregnancies. General screening programmes using this new test, particularly if combined with nuchal translucency programmes, would result in a dramatic reduction in affected babies with major implications to families and the health care system.