Prenatal and Newborn Genetic Testing Making Remarkable Progress Despite Controversies

Prenatal and newborn genetic testing, or reproductive genetic testing (RGT), is a rather controversial topic in diagnostics and has been attracting a lot of attention from scientists, doctors, politicians, religious groups, and the general population. Despite the ongoing debate surrounding the idea of making disease-free and perfect designer babies via genetic screening and counseling, the past several years have witnessed a rapid progress in genomic medicine allowing researchers to detect as well as diagnose genetic abnormalities within a clinical setting; abnormalities that are otherwise discreet.

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Growing Awareness among Expectant Mothers on the Rise 

The market for prenatal and newborn genetic testing is primarily fueled by the increasing number of chromosomal defects among fetuses and newborns and the resultant surge in awareness among expectant mothers. With the hopes of detecting genetic abnormalities at an earlier stage, the demand for screening procedures such as genetic testing has increased. Other key factors driving the global prenatal and newborn genetic testing market include technological advancements in diagnostic techniques and rising late pregnancies and average maternal age. The prenatal and newborn genetic testing market, according to a report by Transparency Market Research, is estimated to develop at an impressive CAGR of 26.90% from 2013 to 2019, rising from a value of US$1.1 bn in 2012 to US$8.3 bn in 2019. 

Shifting Focus towards Non-Invasive Prenatal Testing

According to GEN, a New York-based premier genetic engineering and biotechnology publication, rapid advances in next-generation sequencing technology has allowed prenatal testing to shift towards less invasive techniques such as chorionic villus sampling (CVS). CVS is a prenatal test that enables the diagnosis of chromosomal abnormalities such as Down syndrome. For patients and clinicians, non-invasive prenatal testing (NIPT) serves as an immensely precise intermediate step between serum-screening assays and invasive procedures. Several clinicians are of the opinion that non-invasive prenatal testing is most likely to replace current methods of embryonic testing as the gold standard. 

Another report by TMR indicates that fueled by rising average maternal age, the global market for non-invasive prenatal testing is anticipated to expand at a 17.50% CAGR from 2014 to 2022, rising from a value of US$0.5 bn in 2013 to US$2.3 bn in 2022.

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Possible Expansion in Types of Chromosomal Abnormalities Detected by NIPT

A team of researchers at the San Diego School of Medicine has developed a method that allows the expansion of types of chromosomal abnormalities detected by non-invasive prenatal testing. The study, published last month, uses a semiconductor sequencing platform with a simple blood test from the expectant mother for the identification of small chromosomal duplications or deletions such as those that occur in DiGeorge Syndrome and Cri du Chat Syndrome. The lead author of the study said that even though the particular study was focused mainly on cell-free DNA sequencing in pregnant women, the method could be extended to other genetic diagnoses such as the detection of cancer.