The development of non-invasive prenatal testing (NIPT) has afforded more pregnant women the chance to find out valuable health information. But access to NIPT screening varies significantly across Europe. As the UK makes good on its commitment to roll out screening across England, we look at the issues European policymakers need to consider.
In June, NHS England announced that pregnant women at a higher risk for combined or quadruple screening for chromosomal abnormalities will now be offered non-invasive prenatal testing. This decision is a welcome step, giving more pregnant women the chance to make informed healthcare decisions, with the advice of healthcare professionals.
NIPT screening was first introduced in 2011 and tests are now produced by a range of providers, available to health systems across Europe. 14 European countries now offer NIPT screening as part of a national programme, but there is considerable variation in how screening is made available. For example, in Belgium and the Netherlands, NIPT is offered to all pregnant women. In other European countries such as France, Italy, and Poland, NIPT is only offered to higher risk pregnant women. And in places such as Spain, Germany and Croatia, there is no national programme for NIPT screening.
In countries where NIPT is offered universally, the test has proven very popular, with over 75% of pregnant women in Belgium opting for NIPT screening. However, varying availability has meant that NIPT is still used by less than 25% of women in most European countries.
As this cutting edge-technology becomes more readily available, the benefits to maternal care will be significant. Prenatal genetic testing has been on offer in many countries for several years now. But it is only with the development of NIPT screening can expectant parents undergo genetic testing with no miscarriage risk.
NIPT works by taking a very small maternal blood sample, from which small fragments of DNA (cfDNA) are examined for signs of chromosome abnormality. Specifically, the test determines the likelihood that the baby will be born with one of the three most common trisomy conditions present at birth, which are Down Syndrome, Edwards Syndrome, and Patau Syndrome. The results of NIPT screening can help pregnant women and their families decide if further testing is needed.
As a simple, fast test, results can be expected within seven days. And these results are highly accurate, for NIPT has >99% sensitivity for detecting trisomy conditions. Importantly, NIPT is also incredibly safe, carrying no risk of miscarriage.
NIPT tests have also been used by researchers around the world to identify signs of maternal cancers in women who were otherwise asymptomatic. In three studies, two from the US and one from China, researchers looked at NIPT data from women who had consented to research, identified signs of cancers, and held follow up consultations with affected women’s physicians. All of this was possible through NIPT data alone, with the women remaining completely anonymous to the researchers throughout.
The test’s simplicity, sensitivity, and safety make NIPT a highly trusted tool, giving pregnant women the chance to make informed healthcare decisions for themselves and their families.
The leading provider of NIPT globally is BGI. Founded in 1999 with the vision of using genomics to benefit humanity, BGI is now the world’s leading genomics organisation. With close links with the European scientific community, in 2012 BGI Europe opened its first European Genome Research Centre in Copenhagen, Denmark. Later in 2019, BGI Europe opened a new R&D manufacturing facility in Riga, Latvia, that included a high throughput sequencing centre. It seeks to expand this facility to include a China-Europe Life Health Innovation Centre to strengthen cooperation in life science research and commercial applications.
BGI Europe provides a wide variety of high throughput sequencing services, including whole-genome sequencing, exome sequencing, RNA sequencing and more. But BGI Europe is particularly proud of its market-leading non-invasive prenatal test: the NIFTY test. Created in 2010, and granted European patent approval in 2014, BGI offers this test to over 2000 partners in more than 50 countries worldwide. Having processed over 8,400,000 test samples, NIFTY is the world’s most trusted NIPT service.
The process of completing the NIFTY test with a healthcare provider is simple, straightforward, and highly trusted. Before the process begins, patients are provided with plenty of time and given access to several resources, allowing them to decide whether to opt for a NIFTY test. If the patient chooses to proceed, they will sign a patient consent form that clearly lists possible benefits and potential risks involved.
Once the test is complete, BGI Europe sends the NIFTY test to its laboratory in Hong Kong for analysis, ensuring data is handled securely, privacy is protected, and the sample is destroyed. Indeed, the Hong Kong laboratory adheres strictly to the British Standard 10012:2017 of data protection regulations, with the laboratory regularly audited to check high-level compliance. BGI also complies fully with GDPR. This means patients can use the NIFTY test service, safe in the knowledge their privacy will be respected.
Once the results are returned, the patient will be supported by trusted healthcare professionals to understand the test results and make informed subsequent healthcare decisions.
Appropriate access to NIPT screening as part of nationally agreed guidelines will improve prenatal care by empowering pregnant women with valuable information about the health of their expectant child. As Europe strives to ensure its maternity care is world-leading, policymakers must take advantage of all available tools. By putting families first and offering a wider roll-out of NIPT screening, Europe’s prenatal care will go from strength to strength.