genetic testing and prenatal diagnosis

Two new studies have indicated that genetic testing could be the future of prenatal diagnosis. Researchers have been working towards improving non-invasive testing for the early detection of genetic abnormalities for years now and it appears they are finally getting closer.

Here, we’ll look at the two recent studies carried out and what they mean for the future of prenatal diagnosis.

Study #1: The Lab-On-A-Chip device

The first study, involving a Lab-On-Chip device (LOC), was carried out by Russian and Australian biomedical engineers. They developed the small microfluidic device and published their findings within the Advanced Materials Technologies.

The device screens high volumes of blood, helping to distinguish between maternal white blood cells and fetal cells. It’s well-known that after week five of pregnancy, fetal cells that have been shed from the placenta, start to circulate within the blood. However, existing CVS prenatal tests can only be done as early as 12 weeks into the pregnancy. They’re also usually only offered to women over the age of 35 or to women who have a high-risk pregnancy.

There are also Circulating Cell-Free Fetal DNA and Non-Invasive Prenatal Testing (NIPT) technologies available, but these can currently only detect a very small number of genetic conditions.

The hope is, the new LOC technology will be more reliable and able to detect a larger number of genetic abnormalities. During a feasibility study, the researchers were able to isolate 79% of trophoblastic cells using the LOC technology. They then confirmed that the fetal cells could be used in order to diagnose aneuploidy. A second feasibility study the technology was shown to detect single fetal trophoblast, highlighting that LOC could be used with downstream genetic analysis.

A clinical study will now need to be carried out to validate these results. If it does, the LOC device could significantly reduce the number of invasive tests carried out. It could also help to reassure women who are considered to have a low-risk pregnancy.

Study #2: Fetal DNA Sequencing

The US National Institutes of Health’s Institute director and senior researcher, Diana W. Bianchi, has recently published an article on how fetal DNA sequencing could reduce the need for invasive prenatal testing.

Published within the New England Journal of Medicine, the article claims fetal DNA sequencing helps to improve the accuracy or genetic prenatal screening. It is also said to have helped diagnose conditions which would have otherwise been missed.

Carried out by a simple blood test, it is most commonly used to identify conditions which are the result of an additional chromosome. This includes Down Syndrome, Edwards Syndrome and Patau Syndrome. However, it can also be used to detect conditions which are the result of a single cell mutation. Using fetal DNA sequencing on women who have tested negative for abnormalities, could reduce the need for additional prenatal tests.

Both of these studies show promising results and will hopefully go on to replace the more invasive prenatal tests eventually. The LOC device is especially promising, giving a wider range of women access to non-invasive prenatal testing.