A new blood test becomes positive earlier than current tests after a heart attack. It has the potential to reduce the pressure on A&E and hospital beds by increasing the early discharge of low-risk patients.

Congenital cytomegalovirus (CMV) infection can cause hearing loss and other problems in childhood, but there is no lab test that is suitable to screen all newborns for infection. The New England Journal of Medicine of 2 June 2011 reported a study of a new method using dried specimens of saliva that appears promising for high-throughput large-scale screening.

Recently two independent groups of researchers have shown that heart attacks are less frequent in those with a low ‘bad’cholesterol (LDL cholesterol) if their ‘good’ cholesterol (HDL cholesterol) is normal or high. HDL cholesterol is still an important risk factor even though drugs (statins) may have reduced LDL cholesterol to very low levels. Life style factors that help to maintain the level of ‘good’ cholesterol are not smoking, having a normal body weight and taking regular exercise.

Earlier detection of ovarian cancer is proposed following a trial of annual screening with a serum cancer antigen 125 (CA-125) blood test in more than 46,000 women aged 50 or older at average risk of ovarian cancer. The study was published online in the Journal of Clinical Oncology on 11 May 2015. Investigators used a ‘risk of ovarian cancer algorithm’ (ROCA) based on age and changes in CA-125 concentration with time. The ROCA procedure correctly assessed as not at risk the 99.8% of women who did not have cancer. It also correctly identified 86% of those women who did have cancer. In contrast, the conventional single CA-125 cut-off value of greater than 35 U/mL identified less than half (41%) of those with cancer.

Researchers carried out high-sensitivity cardiac troponin blood tests on 4,870 patients arriving as emergencies at four Scottish hospitals with a suspected heart attack. Their retrospective analysis of the results was reported online in The Lancet on 8 October 2015. In the 3,799 patients who had no electrocardiogram (ECG) evidence of a heart attack and a normal troponin test result on admission, the researchers identified a specific troponin concentration within the normal reference range, below which 99.6% of the patients were not subsequently diagnosed with a heart attack and had therefore been eligible for early discharge. It is hoped that using this approach will substantially reduce hospital admissions and have major benefits for both patients and health-care providers.

In the early weeks of pregnancy screening with blood tests and an ultrasound scan of the baby can help to assess the risk of the baby having a chromosome abnormality such as Down's syndrome, which is caused by an extra copy of chromosome 21. To make a firm diagnosis it is necessary to test tissue from the placenta or fluid from around the baby in the uterus, invasive procedures that carry the risk of causing a miscarriage. Fragments of baby's DNA can be detected in mother's plasma early in pregnancy. Workers from Stanford University have used a new technique to measure tens of millions of short chemical sequences of DNA fragments in mother's plasma and then 'mapped' the sequences to the chromosome map developed by the Human Genome Project. They found that chromosome 21 was clearly over-represented in the plasma of nine mothers carrying babies with Down's syndrome (one as early as the 14th week) but not in nine other mothers. They plan to repeat the study in a larger number of women.