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Included below are news items from the last six months.


Child-Parent screening for risk of premature coronary heart disease

19 December 2016

Premature coronary heart disease can result from the inheritance of a genetic defect from one parent that raises the blood plasma cholesterol concentration from birth. If the condition familial hypercholesterolaemia (FH) is detected early, treatment can prevent premature disease. At present all close relatives of an affected individual are offered screening tests. A UK study published in The New England Journal of Medicine on 27 October 2016 found that screening all toddlers during a routine vaccination visit to 92 general practice surgeries identified both children and parents at risk. Of 10,095 one year old children who were tested over three years, 28 (0.3%) were found to have FH; 28 parents also had FH of whom 25 started cholesterol-lowering treatment.

Update on antenatal tests for Down’s syndrome

7 November 2016

In a news item on 1 February 2016 we reported the recommendation of the UK National Screening Committee that non-invasive prenatal testing (NIPT) of mother’s blood in early pregnancy be offered to those with high risk results from current screening tests for Down’s syndrome. This would decrease the number of false positives and so reduce the number of potential miscarriages from invasive diagnostic procedures. The Department of Health has now approved the test for implementation. It is expected to be rolled out over the next three years once staff have been trained and the technology made available.

A new DNA blood test for Rhesus-D negative women during pregnancy could spare treatment for thousands

9 August 2016

A new prenatal DNA blood test reliably determines the Rhesus-D (RhD) status of the baby being carried by a woman whose red blood cells are RhD negative. Currently all RhD negative women are offered an anti-D immunoglobulin injection during pregnancy to reduce the possibility of problems in future pregnancies. But those carrying an RhD negative baby do not need the injection. The new test was recommended by the National Institute for Health and Care Excellence (NICE) in draft guidance on 14 July 2016. NICE said research indicated that about 40,000 RhD negative women each year would be spared treatment with anti-D immunoglobulin; in addition there would be potential NHS cost-savings of more than £50,000 a year.

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