Prenatal tests (fetus, embryos and newborns)
currently on the market analyze chromosomes, DNA, RNA, genes, and/or gene
products to determine whether an abnormality is present that is causative of a
specific disease. Since 2011, the launch of noninvasive prenatal tests (NIPTs)
is revolutionizing the prenatal screening industry providing detection rates of
>99% and false positive rates of <0.1%. These screening results are only
indicative of the risk and not confirmative. To confirm positive results of
NIPT screening tests, prenatal diagnostic tests such as amniocentesis and
chorionic villus sampling (CVS) are performed. Prior to NIPTs, ultrasound and
maternal serum tests were routinely used to screen fetusus for genetic
abnormalities.
Globally, 50 countries have effective newborn genetic
test programs, the implementation of which is in various stages. In the U.S.,
four million newborns are tested annually, with 3,000 found to have metabolic
and genetic diseases. The purpose of newborn screening is to identify affected
newborns quickly and provide them with treatment to prevent mental retardation,
prolonged illness and death. The newborn genetic screening market is crowded
with different technologies, the common being tandem mass spectrometry, pulse
oximetry, enzyme-based assays, DNA assays and electrophoresis.
Preimplantation genetic screening and preimplantation
genetic diagnosis (PGS/PGD) are genetic tests performed in eight-celled embryos
before implantation during in vitro fertilization (IVF) for the detection of
genetic abnormalities and sex. These tests can detect and diagnose chromosomal
rearrangements, X-linked diseases and help in reducing the incidence of
spontaneous abortions, increase implantation rates, prevent trisomic offsprings
and avoid the risk of transmitting single gene disorders. However, PGS and PGD
results are not 100% accurate and after pregnancy, if required the diagnostic
tests such as amniocentesis and CVS are to be performed to confirm the positive
results of PGS/PGD. In the U.S. alone, more than 63,000 babies were born
through IVF in 2013 and compared to 2012 data; it was an increase of 2,000
births.
The most important development in the field of
prenatal screening, is the introduction of NIPTs using cell-free fetal DNA
(cffDNA) in 2011. Obstetricians and patients who are deterred by the 10% to 15%
false positive rates of ultrasound screening and 5% false positive rates of
maternal serum tests are eagerly embracing NIPTs which claim to have only
<0.1% of false positive results.
Within just four years, molecular genetics firms have
successfully produced eight different types of kits for the detection of
genetic abnormalities in the fetus. These products have been gradually
marginalizing the maternal serum tests and in another decade, maternal serum
tests are expected to become obsolete. If, companies can develop NIPTs with a
100% accuracy rate, maternal serum tests, amniocentesis and CVS will all be
completely overshadowed by NIPTs. Despite the growing popularity of NIPTs,
maternal serum tests still continue to have some market due to their low price.
While the maternal serum tests are available for just $x to $x, NIPTs are
priced between $x and $x. However, Sequenom reportedly sold over x tests in
2013 and so pricing does not seem to be a deterrent factor. The introduction of
technologies such as digital PCR and next-generation sequencing (NGS) or
massively parallel sequencing (MPS) have also enabled accurate estimation of
very small differences in chromosome-specific sequences in maternal blood.
The objective of this report is to provide an
overview of the various technologies being employed for detecting genetic
diseases in embryos, fetuses and newborns. The various chapters describe common
pregnancy disorders, numerical chromosome disorders and structural chromosome
disorders, single gene disorders inherited by fetuses, newborns and embryos.
The global prenatal and maternal diagnostic test market is assessed with
respect to:
- Fetal Ultrasound
- Prenatal MRI Screening
- Maternal Serum Screening Tests
- Noninvasive Prenatal Tests (NIPTs) using cffDNA
- NIPTs by Product
- Prenatal Diagnostic Invasive Tests
- Newborn Screening for Genetic Diseases
- Newborn Screening Market by Technology
- Preimplantation Screening/Diagnosis (PGS/PGD)
SWOT and merger/acquisition analysis is also
performed as is a comprehensive documentation of the legislation pertaining to
newborn screening by geography and how clinical programs are implemented in
developed and developing markets.
Emerging trends in associated markets are also
analysed in order to give the reader a comprehensive overview of how prenatal
and maternal diagnostic testing is affected by the following industries:
- Molecular Diagnostics Market
- Liquid Biopsy Market
- Personalized Medicine Diagnostics Market
- In vitro Diagnostics (IVD) Market
This is a comprehensive 359 page report strengthened
with over 260 figures and tables. Published in January 2016, the GLOBAL
PRENATAL & MATERNAL DIAGNOSTIC MARKET TO 2020 report by KellySciPub has a
detailed overview of 114 companies in the market with specifics pertaining to
financial and business strategy, current products on the market and pipeline
products.
According to WHO, nearly 140 million babies are born
every year, out of which 5 million die in the first month of life, mostly in
developing countries. For example, in India, about 5% to 15% of sick newborns
have a metabolic disorder. This emphasizes the need for newborn screening for
preventing disability and death by early intervention, follow-up and
counselling.
Globally, the use of maternal serum marker screening
and ultrasound imaging for the detection of chromosome aneuploidies and other
birth defects constitute a routine part of prenatal care in the first and/or second
trimesters. Yet, both of these techniques have the disadvantages of high false
positive rates, varying from 2% to 7%. If the results of these tests show that
a fetus is at increased risk of aneuploidy, invasive approaches such as
chorionic villus sampling (CVS) or amniocentesis are recommended for diagnosis.
Fetal
Ultrasound Screening Market
Today, ultrasound is used on average five times per
pregnancy before delivery. The fetal ultrasound screening market generated
revenues of about $x million in 2014 with the potential to earn $x million in
2021, growing at a CAGR of x%. Fetal MRI prenatal screening is performed
rarely, only when the ultrasound screening provides an ambiguous result and to
detect suspected central nervous system (CNS) disorders in the fetus during the
second trimester. The fetal MRI segment had generated estimated revenue of $x
million in 2014 with a potential to earn $x million in 2021.
Maternal Serum
Testing Market
The global maternal serum test market was worth $x
million in 2014 and is forecast to grow and reach $x million by 2021. The
market consists of test methods for:
- Pregnancy-associated plasma protein (PAPP-A)
- Alpha-fetoprotein (AFP)
- Human chorionic gonadotropin (hCG)
- Estriol
- Inhibin-A
- Had it not been for the launch of noninvasive
prenatal tests (NIPTs) in 2011, this market would have fared much better.
Noninvasive
Prenatal Test Market
Noninvasive prenatal tests (NIPTs) are the future of
prenatal screening and have shown signs of surpassing the traditional maternal
serum test revenues by earning about $x million in 2014. With a CAGR of x%,
this market is forecast to reach $x million in 2021.
Newborn
Screening Market
Newborn screening is an accepted national health
policy in about 52 countries. It is a well-entrenched routine of newborn care
in the U.S., U.K., Japan, Australia and most western European countries for the
last three decades. In the Asian continent, China, Philippines and Thailand
have developed admirable newborn screening programs in a relatively short
period of time. Mass spectrometry has become the standard technique for newborn
screening. Using this technique, medical technologists are capable of screening
as many as 30 metabolic disorders from a single sample of blood. The global
market for newborn screening has been valued at $x million in 2014 and it will
be worth about $x million by 2021.
Preimplantation
Genetic Diagnosis Market
Preimplantation genetic diagnosis (PGD) has been in
practice for more than twenty years in about 60 countries globally. PGD testing is performed to identify genetic
defects in embryos. The tests are usually performed in cases of a known genetic
defect, in late age pregnancy, or in patients with a history of repeated
miscarriages. PCR, FISH, CGH, and SNP analysis are some of the most common
techniques used, and PCR is the most widely used technology. The global market
for PGD was worth about $x million in 2014 and this has been predicted to
enlarge and reach $x million in 2021.
Spanning over 359 pages “Global Prenatal & Maternal Diagnostic Market To 2020”
report covers Introduction, Prenatal
Pregnancy Complications: An Overview, Types of Genetic Diseases in Fetuses: An
Overview, Genetic Counseling: An Overview, Prenatal Screening for Genetic
Diseases: An Overview, Newborn Screening, Preimplantation Genetic Screening
& Genetic Diagnosis (PGS/PGD), Pregnancy, Prenatal, Newborn and PGD-Related
Technologies: An Overview, Prenatal Screening and Diagnostics: Market Overview,
Other Genetic Testing-Related Markets, Market SWOT and Strategy Analysis, Appendix.
The report covered companies few are - 23andMe Inc, Abbott Laboratories, Abbott
Molecular Inc, Abcam plc, AB Sciex LLC, Adaltis Srl, Adaptive Biotechnologies
Corp, Affymetrix Inc, Agena Biosciences Inc, Agilent Technologies Inc, Ambry
Genetics Corp, Analogic Corp, Ariosa Diagnostics Inc
