Recent advances in bioinformatics and genomic sequencing have resulted in the development of various noninvasive prenatal testing (NIPT) methods. NIPT is recommended by gynecologists to detect the risk an unborn child may present for various genetic disorders, including Down syndrome. This screening method has been gaining popularity with the commonness of fetal chromosomal aneuploidies and the dangers of high-risk pregnancies.
The global NIPT market, according to industry experts, is forecast to expand at a 17.5% CAGR from 2014 to 2022, rising from a value of US$0.5 bn in 2013 to US$2.3 bn by 2022.
Q. What is the leading factor fueling the demand for noninvasive prenatal testing?
A. The rising incidence of several fetal chromosomal aneuploidies, such as Edwards’ syndrome, Down syndrome, Turner syndrome, and Patau syndrome, has significantly driven the need for noninvasive prenatal testing.
According to the World Health Organization, the incidence of Down Syndrome is estimated to be between 1/1,000 and 1/1,100 live births worldwide. It has been estimated that around 3,000 to 5,000 children are born with Down syndrome each year and around 250,000 families in the U.S. are affected by this chromosomal disorder. Edwards’ syndrome, also called the trisomy 18 syndrome, is the second most common autosomal trisomy syndrome after Down syndrome. The National Institutes of Health (NIH) states that this disorder has an estimated live born prevalence of 1 in every 6,000 to 1 in every 8,000 births. Patau syndrome, on the other hand, is known to occur in around 1/10,000 to 1/16,000 live births each year, the NIH finds.
Each of these chromosomal disorders results in severe developmental and intellectual disabilities in the child, in addition to various physical problems. As a result, the prenatal diagnosis of these disorders via NIPT has become a growing need in cases of high-risk pregnancies.
Q. How far has research come in examining the efficacy and accuracy of NIPT?
A. Today, there are an increasing number of companies that use different analytic methods for noninvasive prenatal testing, also called noninvasive prenatal diagnosis or cell-free DNA-based noninvasive prenatal screening. Compared to previous NIPT methods, modern screening techniques reportedly present a higher detection rate for trisomy 18 (96.85), trisomy 21 (99.0%), and trisomy 13 (92.1%), according to a study published in the New England Journal of Medicine. The study, titled ‘Accurate Description of DNA-based Noninvasive Prenatal Screening,’ was conducted in 2015 by a team of researchers from the University of Hong Kong, the Chinese University of Hong Kong, and the Baylor College of Medicine, Texas.
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The study found that more and more companies in the NIPT market are now expanding their screening methods to include the detection of increasingly rare chromosomal abnormalities. The study compared the efficacy of six laboratories, namely Ariosa, Illumina, Integrated Genetics, Sequenom, Natera, and BGI, in terms of detecting false positives and false negatives. The study found that BGI’s NIPT test performed better than all the others examined. It also described that there are several intrinsic biologic factors such as confined placental mosaicism, somatic mosaicism, and maternal copy-number imbalance that are responsible for false negative and false positive results of NIPT.
