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

将子宫颈抹片快速 MF-PCR 与颈部超声扫描相结合，改善妊娠早期筛查

• 批准号: nhmrc : 252756
• 负责人: Dr Ian Findlay
• 金额: $ 13.79万
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Development Grants
• 财政年份: 2002
• 资助国家: 澳大利亚
• 起止时间: 2002-01-01 至 2004-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/improving-trimester-screening-ultrasound-scanning/81039
• 关键词: Improving; first; trimester; screening; combining

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.

遗传缺陷是胚胎和胎儿死亡的主要原因，也是造成很大比例儿童残疾的原因。虽然目前在澳大利亚每年进行的约50，000次产前检查中发现了许多方法，但这些方法仅提供给高风险母亲，因为它们是侵入性的（约1%的流产风险），并且-或昂贵。因此，一种快速、低成本、侵入性较小和更安全的替代产前诊断方法，如可以向所有母亲提供的子宫颈抹片检查，无论风险如何，对母亲和卫生保健系统都具有巨大的价值。该建议通过改进子宫颈抹片检查的产前诊断来加强妊娠早期筛查。虽然通常用于检测癌症，但这些涂片含有大量的胎儿细胞。我们将调查：获得这些细胞的最佳方法和时间，从任何污染中去除细胞的最佳方法，使用称为MF-PCR的技术对这些细胞的基因诊断的改进，该技术正在迅速彻底改变传统的产前诊断。通过这些程序的自动化，它们将变得更便宜，更容易为所有母亲，无论风险如何。我们还将这些程序与其他孕早期筛查技术（如颈部透明性）进行比较，以确定单独和联合使用这两种检查的价值。这项研究应该提供一个安全，可靠和准确的方法，使廉价的产前筛查可用于所有怀孕。使用这种新测试的一般筛查方案，特别是如果与颈部接触方案相结合，将导致受影响婴儿的急剧减少，对家庭和卫生保健系统产生重大影响。