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

“所有准父母都希望怀孕顺利，分娩顺利，宝宝健康。”不幸的是，妊娠并发症可能会对母亲和未出生的孩子产生影响。作为孕妇就诊途径的一部分，国家卫生服务机构提供监测和筛查方案，作为护理的标准，以确保母亲和儿童的健康和福祉。这些检查包括体检、血液测试和超声波扫描。它们被用来确定怀孕的孕周，确定孩子是否有唐氏综合症(以及更罕见的染色体异常)的风险，并确保婴儿正常发育(例如，心脏、大脑、肾脏和骨骼发育)。如果验血结果显示唐氏综合症的风险很高，就会给父母做羊膜穿刺术。羊膜穿刺术和基因检测可以用来确认或反驳结果。羊膜穿刺术有微小但明确的流产风险(0.5-1%)，因此一些妇女可能会选择不接受这一手术。在过去的几年里，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这一事实。只需对母亲进行简单的血液测试，就可以消除流产的风险。对21-三体/唐氏综合症(以及另外两种疾病--13-三体/Patau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测试，显著扩展可检测到的遗传或获得性遗传疾病的数量。当超声波扫描(在怀孕第一和第二个三个月)发现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能会从根本上改变怀孕的管理。对严重遗传疾病的更早和更好的诊断使出生后能够进行适当的护理和治疗计划，在某些情况下，早期干预可以显着改善临床结果。“

"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."