New screening test for Down\'s Syndrome could prevent miscarriage

BGI Health is marking Baby Loss Awareness Week this week with the launch of a new non-invasive screening test for Down’s Syndrome and other conditions, which can reduce the risk of miscarriage significantly compared with other, potentially-unnecessary invasive procedures, according to recent studies.

Baby Loss Awareness Week was set up to coincide with International Pregnancy and Infant Loss Awareness Day on 15 October. The campaign aim is to try to encourage people to understand pregnancy and the depth of the devastation experienced, as British and US studies have shown that the psychological impact of losing a baby can last for many years. Around one in five pregnancies end in a miscarriage.

BGI Health is hoping to reduce a significant number of miscarriages through the introduction of its NIFTY screening test. This test is the most validated on the market, as proven by a published clinical study involving more than 11,000 pregnant women, which showed that using the new, highly-accurate yet simple blood test prevented up to 110 potential miscarriages.

Currently, all mothers-to-be are offered the opportunity to take part in the NHS screening programme to detect Down’s Syndrome. However, these screening test results can only tell mothers whether they are at low or high risk of having a baby with Down’s Syndrome.

Mothers with a high risk result are referred on for an invasive diagnostic procedure – such as an amniocentesis - which carries a miscarriage risk. This procedure does confirm whether the baby has Down’s Syndrome or not.

The current screening tests have around a 5% false positive rate – this means that 5% of the women who receive a high risk result have perfectly healthy babies and are being sent for invasive tests when they aren’t required, putting their babies at needless risk of miscarriage.

The new highly-accurate NIFTY test could prevent those 5% of women from undergoing the invasive procedure unnecessarily, saving them from the risk of miscarriage.

A clinical study published in Prenatal Diagnosis Journal last year, showed that using the test prevented up to 111 potential miscarriages among the high-risk women. The test was also proven to have a 99.9% accuracy rate for detecting Trisomy 21 – which causes Down’s Syndrome.

NIFTY works with a simple blood test from the mother. The test detects free-floating foetal DNA in the mother’s blood, using next-generation sequencing technology coupled with advanced bioinformatics analysis, giving a much more accurate picture.

Mothers who go through the screening programme, and receive a high-risk result, could then undertake the private NIFTY test to get a more accurate result without any risk of miscarriage. It can be performed from 10 weeks onwards and used for any women, even those who have undergone IVF or egg donation.

Ning Li, chief executive of BGI Europe, said: “Our NIFTY test is the most clinically-validated test on the market and has been proven to be fast, reliable and most importantly, highly accurate. It has the potential to save many women the agonising decision of whether to take the risk of going through a potentially unnecessary invasive procedure, providing peace of mind and reducing the chances of miscarriage.”