A brief study on prenatal genetic screening and testing

By introducing new technologies into the current practice of prenatal screening and testing, the chances of detecting any kind of genetic abnormalities in the fetus have gone up. This in turn will help parents to be take the best decision when it comes to their baby.

Everything from carrier screening panels to non-invasive cell-free fetal DNA-based screening can easily help prevent issues like aneuploidy and single-gene disorders. Apart from this, these tests will also help brilliantly in detecting subchromosomal abnormalities!

Having introduced technologies like chromosomal microarray analysis and whole-exome sequencing one can diagnose a wider array of conditions. By collecting samples through amniocentesis (the testing of the amniotic fluid) or chorionic villus sampling, the chances of preventing any kind of disease has also decreased, especially since these options have proven to be quite non-invasive!

For the past 30 years almost, the main focus has been on being able to identify and diagnose pregnant women through prenatal screening, for genetic abnormalities in the fetus. This was to mainly to identify women whose fetus had more of a chance to develop Down syndrome.

With recent technological advances that help in identifying numerical and structural chromosome abnormalities and mutations, like array-based analysis called chromosomal microarray analysis (CMA), and next-generation sequencing (NGS), the process of screening and diagnosing any kind of abnormality present in the fetus has gone through a rapid development.

Thanks to the availability of CMA- and NGS-based methods, the ability to diagnose a wider array of genetic fetal conditions has becomes possible and more probable. Because of all these tests, exciting opportunities for comprehensive prenatal diagnosis and screening have opened up.

But, like with every new development, these too are accompanied with their fair share of challenges. Despite the fact that healthcare providers are introducing these technologies, they must also consider that the consequences of such a quick introduction could prove to be harmful, since there is still a limited knowledge about the test performance of some assays in routine clinical practice.