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

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"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."