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.
Industrial
Content of Non-invasive Prenatal Testing:
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.
An
array of graphics and SWOT analysis of Non-invasive Prenatal Testing
is available at:
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.
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