Researchers in the UK have concluded that non-invasive prenatal testing (NIPT), if offered through public health systems, would improve the quality of care, choices for women and their unborn children and the overall performance of the public health system within the current budget.

The NIPT test, first introduced in Hong Kong in 2011, is a non-invasive screening method where a blood sample is taken from the expectant mother’s arm after ten weeks of gestation and sent to a laboratory. At this stage, the blood contains a mixture of the mother’s and the fetus’s DNA which can be extracted and tested for indicators of Down syndrome, Edwards’ syndrome, and Patau’s syndrome.

In January 2016, the United Kingdom National Screening Committee (NSC) recommended making NIPT a part of the NHS Fetal Anomaly Screening Programme based on these findings. According to NSC, the test will be provided to women at high risk as indicated by the RAPID panel of scientists. The panel, led by Professor Lyn Chitty of UCL Institute of Child Health, has set the risk threshold level at 1/150.

After years of data analysis, the study panel concluded NIPT can be provided as part of the UK’s National Down’s syndrome screening pathway, if it is offered as a contingent test for women at high risk of having a baby with Down syndrome. High-risk situations for Down syndrome can include conditions such as a mother who is 35 years of age or older, fetal abnormality suspected in a sonogram and having a family history of such disorders.

In the UK, the NIPT test is offered by two main private services — NIFTY and Harmony. The Harmony screening test is 99% accurate for diagnosing Down syndrome, 97% accurate for diagnosing Edwards syndrome, and 80% accurate for diagnosing Patau’s syndrome. The NIFTY test, on the other hand, provides 99% accuracy for all the syndromes. The subsidized test cost can range from 400 pound to 750 pounds, with a turnaround time of two to three weeks.

The panel predicts if costs per test are kept at £256, the NIPT test will be comparatively cheaper and safer than current invasive screening tests. Current screening methods such as amniocentesis or chorionic villus sampling (CVS) are high-risk, invasive procedures which can be potentially fatal for the fetus.

The other method currently used by NHS, known as the combined test, is a mixture of an ultrasound and a blood test, and costs £200.  The combined test, however, is less accurate, with the procedure only having an 85% success rate of accurately predicting the fetus’s fate.

The RAPID (Reliable, Accurate, Prenatal, non-Invasive Diagnosis) study programme was designed as an evaluation strategy to oversee the effects of implementing NIPT in UK National Health Services, in terms of cost, uptake, pregnancy health outcomes, and female experiences. The aforementioned RAPID study data was recently published in the British Medical Journal.

It is worth noting all RAPID results and policy recommendations are based on data before the 2016 EU referendum. Therefore, whatever kind of post-Brexit consequences the health sector will suffer and whatever policy recommendations, especially those related to costs, will occur, have not been taken into account.

Is Down Syndrome Screening Enough To Abort Pregnancy?

According to Dr Kelly Cohen, a consultant on Fetomaternal Medicine, the adoption of the NIPT test will not change the number of babies born with the Down syndrome — a conclusion in line with current results.

Furthermore, a study conducted by professor Kypros Nicolaides of Fetal Medicine Foundation, found that the rate of pregnancy termination did not increase after the introduction of NIPT.

NIPT usage by women is quite high with most women only using it for information purposes. In reality, many women choose to continue with their pregnancy despite a positive test result.

Dr Cohen says, “Learning this information early gives them and their families time to prepare for the birth, and also allows doctors to make sure that the baby is looked after in the best possible way”.

Taking the financial implications of raising a child with Down syndrome into account reveals medical costs can be 12 to 13 times more than that of a normal child.

About NIPT And Down Syndrome

Non-invasive prenatal testing (NIPT) provides highly accurate results for potential cases of Down syndrome in expectant mothers.

Down syndrome can be found in a variety of genetic forms such as standard or regular trisomy-21, translocation, and mosaicism. Symptoms can include physical disfiguration, lower behavioral and mental capacity and weaker muscles.

Nearly two babies with Down syndrome are born in the UK each day with every 1 in 1000 children having the disorder. The total number of diagnosed cases of Down syndrome is currently 60, 000.