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Congenital heart defects are a leading cause of infant death, accounting for more deaths than any other type of malformation and up to 7.5% of all infant deaths. Timely diagnosis is crucial for the best possible outcome for these children. However, the accuracy of current methods for screening for critical congenital heart defects (CCHD) before birth is variable and currently only detects these defects in between 35-50% of cases. Although around a third of remaining cases are picked up after birth, up to a third of children with a CCHD are sent home, where they may become unwell or die. Research led by Dr Andrew Ewer at the University of Birmingham has demonstrated that pulse oximetry is a rapid, safe, non-invasive, painless method of detecting the low blood oxygen levels associated with CCHD, and is also a cost-effective approach. As a result of Dr Ewer's research, Pulse Ox was recommended for adoption across the US in 2011 by the Secretary for Health and Human Services, and Dr Ewer has been instrumental in this screening approach being taken up worldwide. This research prompted a national UK review of screening for these conditions.
Research conducted by LSHTM has played a key role in supporting the global elimination of congenital syphilis. Two studies providing evidence of the health burden of congenital syphilis in Africa and the effectiveness of benzathine penicillin treatment form a pillar upon which WHO established its new syphilis elimination initiative. Further research has resulted in the adoption of new point-of-care tests for screening pregnant women for syphilis in 30 countries. As a result, more women are diagnosed and fewer babies die of syphilis.
Pregnant women and public health service providers have benefitted since 2003 from the development of an ultra-sensitive immunoassay for inhibin-A — a hormone that is produced by the placenta during pregnancy and that is elevated in Down's syndrome pregnancies. The assay, developed by Professor Groome at Oxford Brookes University and Professor Knight at the University of Reading in 1994, was the first test capable of quantifying low levels of inhibin-A in the peripheral blood of humans. Addition of this test to existing antenatal screening tests improved the Down's syndrome detection rate from 59% to 70% and from 67% to 77% when combined with ultrasound imaging. Addition of inhibin-A as the fourth marker measured in the maternal blood serum became known as the quadruple or quad test and was adopted into UK clinical guidelines in 2003. It remains the recommended screening test for women who present themselves in the 2nd trimester. Since 2008 hundreds of thousands of UK women and their healthcare providers have benefitted from the additional information provided by this more accurate screening method, including whether more invasive diagnostic tests are wanted. The quadruple test has been widely adopted in the clinical guidelines in other countries including the US, Canada, and Australia.
The Institute of Sound and Vibration Research (ISVR) has played an influential role in transforming testing for child deafness in Europe, North America and elsewhere. In England, the NHS drew on its findings in deciding to replace traditional testing methods with universal newborn hearing screening programmes. This form of testing is more accurate, cost-effective and can be conducted at an earlier age. In England alone more than four million babies will be screened between 2008 and 2013, with around 6,000 identified as having hearing impairments. Earlier clinical intervention has benefited children's language development and overall quality of life.
Clostridium difficile infection (CDI) is a frequent and often fatal hospital-acquired infection. In the past, the diagnosis of CDI has been inadequate. This has had serious consequences for the management and control of infection in healthcare settings. Planche and colleagues at St George's have developed and validated a new diagnostic algorithm for CDI. This has led to policy changes in the UK Department of Health, and amongst European and US authorities, and to practical changes in the way CDI is diagnosed. Its implications for the successful understanding and management of this infection have been profound.
A series of projects focusing on the medical, social, and emotional experience of pre-pregnancy, pregnancy, and early motherhood have been undertaken since 2006 at Plymouth University. The impact of these projects is wide ranging covering both policy and practice. The research has: changed the physical environment of the antenatal clinic specifically to suit the needs of pregnant women with pre-existing diabetes; developed an online leaflet for women with Polycystic Ovary Syndrome (PCOS); developed training programmes for health and social care professionals; provided baseline information to inform practitioners and patients involved in UK screening programmes; and, informed screening strategies for Downs Syndrome.
Until recently, prenatal diagnosis of genetic conditions required analysis of fetal genetic material obtained following invasive testing, with a risk of miscarriage. Non-invasive prenatal diagnosis (NIPD) using cell-free fetal DNA in maternal plasma has transformed prenatal diagnosis for many women. Testing the maternal blood sample avoids the miscarriage risk. At UCL, we have led the implementation into clinical practice of NIPD for serious sex-linked and autosomal dominant disorders. After a successful application for UK Gene Testing Network (UKGTN) Gene Dossier approval for fetal sex determination in 2011, this is now the standard of care across the UK.
The UK Faecal Occult Blood Test Screening Programme, based on Dundee-led research (Steele), offers bowel cancer screening through mailed test kits followed up with colonoscopy when faecal blood is detected. It is estimated to prevent about 2,000 UK deaths annually. Steele's Screening Research Unit also trialled immunological faecal occult blood testing, which was subsequently incorporated into the Scottish screening algorithm. In addition to demonstrating a 27% reduction in bowel cancer deaths through participation in Faecal Occult Blood screening, the Unit has researched the incidence of interval cancers and the impact of repeated invitations, development of new tests, and strategies for increasing participation. All of these drive the National Screening Programme, and will further reduce mortality.
Congenital heart defects are a leading cause of infant death, accounting for more deaths than any other type of malformation and up to 7.5% of all infant deaths. Timely diagnosis is crucial for the best possible outcome for these children. However, the accuracy of current methods for screening newborn babies for critical congenital heart defects (CCHD) is variable and currently only detects these issues in between 35-50% of babies before birth. Although some cases are picked up after birth, up to a third of children with these problems are sent home undiagnosed, where they may become unwell or die. Research at the University of Birmingham has demonstrated that pulse oximetry is a rapid, safe, non-invasive, painless method of detecting the low blood oxygen levels associated with CCHD, and is also a cost-effective approach. As a result of our research, pulse oximetry was recommended for adoption across the US in 2011 by the Secretary for Health and Human Services. In the UK, our research is prompting a national review of screening for these conditions and some units are already using the approach, meaning that some patients are already benefitting.
Research by Professor Judith Stephenson and colleagues at the UCL Institute of Women's Health into the effectiveness of chlamydia screening has led to guidance to health policy makers in the EU about national strategies for chlamydia control, and has influenced NICE guidelines on the subject. In particular, our work has informed debate on the value for money of the National Chlamydia Screening Programme (NCSP). Stephenson advised the National Audit Office on this topic, and a resulting report led to the NCSP focusing on chlamydia testing in sexual health services and primary care rather than screening in low risk groups. These changes are expected to make considerable cost savings to the NHS.