Next Generation Prenatal Screening - Improving Detection, Diagnosis and Treatment of Genetic Disease

下一代产前筛查——改善遗传性疾病的检测、诊断和治疗

• 批准号: 133615
• 金额: $ 51.86万
• 依托单位: CONGENICA LTD
• 依托单位国家: 英国
• 项目类别: Feasibility Studies
• 财政年份: 2018
• 资助国家: 英国
• 起止时间: 2018 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=133615
• 关键词: Next; Generation; Prenatal; Screening; Improving

"All expectant parents hope for an uneventful pregnancy, a trouble free birth and a healthy baby. Unfortunately, complications of pregnancy may occur with implications for both the mother and the unborn child. As part of the patient pathway for pregnant mothers, the National Health Service provides monitoring and screening programmes as the standard of care to ensure the health and wellbeing of mother and child. These include physical examinations, blood tests and ultrasound scans. These are used to determine gestational age of the pregnancy, determine if the child is at risk from Down's syndrome (and rarer chromosomal abnormalities) and to ensure that the baby is developing normally (e.g. heart, brain, kidneys and skeletal growth). If the blood test results indicate that there is a high risk of Down's syndrome, amniocentesis is offered to the parents. An amniocentesis and genetic testing may be used to confirm or disprove the result. Amniocentesis carries a small but definitive risk of miscarriage (0.5-1%) and therefore some women may choose not to undergo this procedure. Over the last few years, significant technological advances have been made that mean it is now possible to perform the same test ""non-invasively"". This relies on the fact the DNA from the baby is present in the mother's blood. A simple blood test from the mother is all that is required, removing the risk of miscarriage. Non-invasive genetic testing for Trisomy 21/Down's syndrome (and two additional disorders - Trisomy 13/Patau syndrome and Trisomy 18/Edward's syndrome) will be introduced into the NHS in 2018\.This project is focussed on the development of a non-invasive screening test that significantly extends the number of inherited or acquired genetic conditions that can be detected. This is particularly important when ultrasound scanning (in the first and second trimester) reveals structural defects in the baby's major organs. Ruling in or ruling out genetic causes of these defects can radically alter the management of the pregnancy. Earlier and improved diagnosis of severe genetic disorders enables appropriate care and treatment planning following birth and in some cases early interventions can significantly improve clinical outcomes."

“所有的准父母都希望怀孕顺利，分娩顺利，婴儿健康。不幸的是，怀孕并发症可能会发生，对母亲和未出生的孩子都有影响。作为孕妇就医途径的一部分，国家卫生服务局提供监测和筛查方案，作为确保母婴健康和福祉的护理标准。这些检查包括身体检查、血液检查和超声波扫描。这些被用来确定怀孕的胎龄，确定孩子是否有患唐氏综合症（和罕见的染色体异常）的风险，并确保婴儿正常发育（例如心脏，大脑，肾脏和骨骼生长）。如果验血结果表明有患唐氏综合症的高风险，则向父母提供子宫颈穿刺术。一个穿刺术和基因检测可用于确认或反驳的结果。羊膜穿刺术有很小但确定的流产风险（0.5-1%），因此有些妇女可能选择不接受这种手术。在过去的几年里，已经取得了重大的技术进步，这意味着现在可以“非侵入性地”进行同样的测试。这取决于婴儿的DNA存在于母亲的血液中。一个简单的血液测试从母亲是所有需要，消除流产的风险。21三体/唐氏综合征（以及另外两种疾病--13三体/帕托综合征和18三体/爱德华综合征）的非侵入性基因检测将于2018年引入NHS。该项目专注于开发一种非侵入性筛查测试，可显著增加可检测到的遗传或获得性遗传疾病的数量。当超声波扫描（在第一和第二个三个月）显示婴儿主要器官的结构缺陷时，这一点尤其重要。排除或排除这些缺陷的遗传原因可以从根本上改变怀孕的管理。对严重遗传性疾病的早期和更好的诊断有助于制定出生后的适当护理和治疗计划，在某些情况下，早期干预可以显着改善临床结果。"