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

“所有的准父母都希望怀孕平安无事，没有问题，生个健康的宝宝。不幸的是，妊娠并发症可能对母亲和未出生的孩子都有影响。作为孕妇患者途径的一部分，国家保健服务提供监测和筛查方案，作为确保母亲和儿童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。这些用于确定怀孕的胎龄，确定孩子是否有患唐氏综合症的风险（以及罕见的染色体异常），并确保婴儿发育正常（例如心脏、大脑、肾脏和骨骼生长）。如果血液检查结果表明有唐氏综合症的高风险，则为父母提供羊膜穿刺术。羊膜穿刺术和基因检测可用于证实或反驳该结果。羊膜穿刺术有很小但确定的流产风险（0.5-1%），因此一些妇女可能选择不进行该手术。在过去的几年里，重大的技术进步已经取得，这意味着现在可以进行相同的“非侵入性”测试。这取决于婴儿的DNA存在于母亲的血液中。只需对母亲进行一次简单的血液检查，就可以消除流产的风险。21三体/唐氏综合征（以及另外两种疾病——13三体/帕陶综合征和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。该项目的重点是开发一种非侵入性筛查试验，大大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（在妊娠早期和中期）显示出婴儿主要器官的结构性缺陷时，这一点尤为重要。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。早期和改进的严重遗传疾病诊断可以在出生后制定适当的护理和治疗计划，在某些情况下，早期干预可以显著改善临床结果。”

"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."