We’ve spoken in the past about non-invasive pre-natal testing, but it’s usually in the context of high risk pregnancies; this may no longer be the case.

Research from the Women & Infants Hospital of Rhode Island has shown that DNA-based prenatal blood tests can be offered appropriately and effectively to all women, irrespective of age or risk factors, through primary obstetrical care providers. Their results were published in Genetics in Medicine in January 2017. The test, known as DNAFirst screening, is currently offered to pregnant women who are at higher risk of offspring with chromosomal abnormalities such as Down’s syndrome, but not to the general pregnant population. The screening involves the detection and analysis of cell-free foetal DNA, a type of DNA from the foetus that circulates in the mother’s bloodstream.


One of the lead researchers, Dr. Glenn Palomaki, said, “We already know that DNA-based screening is highly effective. This study enabled us to look at its implementation in the general population to determine how best to educate professionals and patients.”

The study involved developing educational materials for patients and training test providers how to best communicate with the women involved. After a test had been completed, both the patient and the provider were surveyed to understand the depth of their knowledge about the test, what factors had encouraged them to undergo the screening, and their overall satisfaction with the care. The results showed that women who had been offered the screening as part of their routine pre-natal care alongside an educational programme were more likely to take the test and showed a clearer understanding of the process.

The screening didn’t require significant changes to the care provider systems already in place, but allowed a larger percentage of women to learn more about their pregnancy without the need for invasive tests. “The current study results will be utilized by policy-makers, professional organizations and insurance providers when deciding how and to whom DNA-based prenatal screening will be offered,” said Dr. Palomaki.

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