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Global Prenatal, Maternal & Carrier Diagnostic Market Analysis and Forecast to 2021

Global Prenatal, Maternal & Carrier Diagnostic Market Analysis to 2021- Order report by calling at +1 888 391 5441 OR send an email on with Prenatal, Maternal & Carrier Diagnostic Market in subject line and your contact details.

The GLOBAL PRENATAL, MATERNAL & SCREENING DIAGNOSTIC MARKET TO 2021 report 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.


The global prenatal and maternal diagnostic test market is assessed with respect to:


Fetal UltrasoundPrenatal MRI ScreeningCarrier Screening TestsMaternal Serum Screening TestsNoninvasive Prenatal Tests (NIPTs) using cffDNANIPTs by ProductPrenatal Diagnostic Invasive TestsNewborn Screening for Genetic DiseasesNewborn Screening Market by TechnologyPreimplantation Screening/Diagnosis (PGS/PGD)

Complete Report Title “Global Prenatal, Maternal & Carrier Diagnostic Market Analysis to 2021” is a comprehensive 390 page report strengthened with over 260 figures and tables available@

Objectives of this Report

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.


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 MarketLiquid Biopsy MarketPersonalized Medicine Diagnostics MarketIn vitro Diagnostics (IVD) Market

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.


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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.


 Executive Summary

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.


Product Description


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)EstriolInhibin-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.


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Key Questions Answered in This Report

What are the major prenatal pregnancy complications?What are the major genetic diseases detected in fetuses?What are the appropriate technologies for the detection of aneuploidies, microdeletions, duplications, copy number variations/alterations and translocations?How far is genetic counseling important in educating pregnant women and healthcare professionals?What is the impact of recent advances in clinical genomics on genetic counseling?What different noninvasive and invasive prenatal screening tests are performed during a pregnancy?What are the detection rates, true positive rates and true negative rates for NIPTs?Currently, in which countries are NIPTs available?What is the cost of NIPTs region-wise?What is the uptake of conventional maternal serum tests, NIPTs and invasive diagnostic tests in the S.?What is the average cost of maternal serum screening, NIPTs, fetal ultrasound screening and invasive diagnostic tests in the S.? And more..

Table of Content


Prenatal Pregnancy Complications: An Overview
Types of Genetic Diseases in Fetuses: An Overview
Genetic Counselling: 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
Acquisition Activities in Prenatal Screening Industry
Company Profiles


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Prenatal Blood Tests Can Also Detect Cancer in Pregnant Women

Prenatal Blood Tests Can Also Detect Cancer in Pregnant Women | The World |

Mothers-to-be expecting to learn about chromosomal defects from a noninvasive prenatal test sometimes instead learn they may have cancer.

Via Integrated DNA Technologies
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In the US, a new era in non-invasive prenatal testing has just begun

In the US, a new era in non-invasive  prenatal testing has just begun | The World |

A new, noninvasive prenatal test is poised to change the standard of care for genetic screening. Cell-free fetal DNA (cfDNA) testing requires only a maternal blood sample, can be performed as early as 9 weeks of gestation, and outperforms standard screening tests for trisomies 21, 18, and 13 in high-risk populations. It has a sensitivity exceeding 98% and a specificity above 99.5%.


Currently, standard screening entails testing of maternal blood samples at gestational weeks 10 to 13 or 16 to 18 (or at both points) to measure serum markers associated with common trisomies and usually an ultrasound examination, including measurement of nuchal translucency, at 11 to 13 weeks. This approach identifies more than 90% of trisomies, with a screen-positive rate of 5% in the general population. Diagnostic testing for women with positive results on screening requires either amniocentesis or chorionic villus sampling, invasive procedures that carry a risk of miscarriage. Amniocentesis, which is performed far more commonly than chorionic villus sampling, is generally delayed until after 15 weeks, with a 1-to-2-week turnaround time for results.


The use of cfDNA testing may appeal to expectant parents for many reasons: it carries no risk of miscarriage, permits earlier detection, and generally provides earlier information about a fetus's sex. Earlier testing can reassure parents who have negative results, while offering those with abnormal results timely information to help them make difficult decisions. People who choose to continue a pregnancy after an abnormal result have additional time to prepare to deliver and care for their child.


Nevertheless, the diffusion of cfDNA testing into routine prenatal care may be occurring too quickly. Professional societies do not recommend these tests for normal-risk pregnancies because their clinical utility in the general population is not well established. Yet because the Food and Drug Administration (FDA) is not empowered to require testing companies to produce evidence of clinical utility before receiving marketing approval, companies have been free to build consumer demand for cfDNA testing by aggressively marketing the tests, emphasizing data that do not answer key questions. As a result, cfDNA testing seems to be drifting into routine practice ahead of the evidence.


Tests of cfDNA appear to be highly sensitive and specific in detecting trisomies, but two problems plague the evidence base. First, the sensitivity and specificity of the tests derive from studies done on collections of archived samples with known karyotypes that intentionally included a large proportion of specimens from women with known aneuploid fetuses. Evidence concerning the performance characteristics of the testing in the general population and for multiple gestations is limited.1 Second, cfDNA-testing companies have not reported information about their tests' positive predictive value (PPV), and there is reason to question the tests' performance on this measure.2Arguably, PPV is more important than sensitivity and specificity to patients undergoing testing: it indicates the probability that a positive test result indicates a true fetal aneuploidy. Thus, PPV should be discussed in study reports and marketing materials but isn't.


Studies of cfDNA testing have often been conducted on samples including a high percentage of specimens with known abnormal karyotypes. Prevalence rates for Down's syndrome in the samples are as high as 1 in 8.3 Although sensitivity and specificity are unaffected by the condition's prevalence in the test population, PPV and negative predictive value (NPV) vary considerably with prevalence. At a prevalence of 1 in 8, assuming a constant specificity of 99.7% and a sensitivity of 99.9%, the PPV and NPV are impressively high — 97.94% and 99.99%, respectively. But at a prevalence of 1 in 200 — the approximate prevalence of Down's syndrome among fetuses of 35-year-old women in the second trimester of pregnancy — the PPV drops to 62.59%.


It is worrisome that some laboratories that performed validation tests may have been aware that the samples included high proportions of specimens with known aneuploidies — but that this isn't always made clear in the studies' descriptions. Prior knowledge about the prevalence of aneuploidies in the samples may well have affected an analyst's decisions about how to classify ambiguous test results: someone who believes 1 in 8 samples is abnormal may be more likely to classify a questionable result as abnormal than someone who believes that 1 in 200 is abnormal. Not all published studies of cfDNA testing have this problem, and one study of a sample without a high prevalence of aneuploidies suggests that the false positive rate for the Harmony test (Natera) is low.1 Without additional evidence, however, the clinical utility of cfDNA remains uncertain.


Given this unproven utility in the general population, the leading professional organizations, including the American Congress of Obstetricians and Gynecologists, the Society for Maternal–Fetal Medicine, and the National Society of Genetic Counselors, recommend cfDNA testing only for “high-risk pregnancies,” without specifically defining “high risk.” Furthermore, they recommend that positive results be confirmed through invasive testing. That recommendation is important for patients to understand, because if patients with positive results on cfDNA testing are counseled to wait until their diagnosis is confirmed before taking action, an important potential benefit of cfDNA testing is lost.


Patients must also weigh the benefits of earlier detection against other informational costs. Tests of cfDNA do not provide information about some disorders that are identified through standard screening, including chromosomal abnormalities other than trisomies. It is thus crucial that providers carefully counsel patients about the test's advantages and disadvantages. Decision making is further complicated by the fact that cfDNA testing is costly and not widely covered by insurance. Four versions of the test are available in the United States, priced from $795 to more than $2,000. A few major insurers cover cfDNA testing if it's accompanied by confirmatory testing for positive results, but many have yet to decide whether to cover it.


Meanwhile, testing companies have pursued various strategies to build consumer demand, including reaching out to expectant mothers through YouTube, Facebook, and Twitter. Some companies have capped out-of-pocket costs and offered “introductory pricing” specials with costs ranging from $200 to $235. This strategy has had apparent success, with one company boasting a “spectacular” adoption rate of 60,000 tests performed in 2012.


The companies' marketing strategy risks building demand for tests that may not offer a substantial benefit, particularly for women with low-risk pregnancies. Expectant parents' excitement about the opportunity to learn their child's sex and rule out trisomies earlier may lead to discounting the tradeoffs involved, push the standard of care away from professional recommendations for confining use to high-risk populations, and contribute to higher costs. The evidentiary gaps concerning cfDNA testing, aggressive marketing, and rapid diffusion into routine practice can be traced, at least partially, to our country's regulatory scheme for laboratory-developed tests. Under FDA regulations, commercial test kits — which are distributed to multiple laboratories and health care facilities — are subject to both premarketing assessments of analytic and clinical validity and postmarketing reporting of adverse events. No similar requirements exist for tests, like the cfDNA tests, developed for in-house use by a single laboratory.


Laboratory-developed tests are governed, instead, by the Clinical Laboratory Improvement Amendments of 1988. Laboratories must demonstrate such a test's accuracy, precision, specificity, and sensitivity — but not its clinical validity or utility. Although companies offering noninvasive prenatal tests have chosen to perform studies in the targeted population, they aren't obliged to do so, nor must they design studies so as to provide robust evidence about clinical utility.


Congress's choice to require a less onerous regulatory approach for laboratory-developed tests arguably promotes the availability of new tests, but it leaves the real-world benefits and risks of these tests more uncertain than those of commercial tests. The rapid proliferation of direct-to-consumer genetic tests and other laboratory-developed tests has led to controversy, culminating in two unsuccessful congressional attempts to strengthen oversight. For now, as with many medical innovations, it will fall to physicians to hold the line against pressures promoting diffusion of cfDNA testing beyond the boundaries of available evidence.

Via Dr. Stefan Gruenwald
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