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GLOBAL PRENATAL & MATERNAL DIAGNOSTIC MARKET TO 2021

  • September 2016
  • -
  • Kelly Scientific Publications
  • -
  • 389 pages

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) and carrier screening tests

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 390 page report strengthened with over 280 figures and tables. Published in September 2016, the GLOBAL PRENATAL & MATERNAL DIAGNOSTIC MARKET TO 2021 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.


1.3 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 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 rate, true positive rate and true negative rate for NIPTs?
- Currently, in which countries are the 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 U.S.?
- What is the average cost of maternal serum screening, NIPTs, fetal ultrasound screening and invasive diagnostic tests in the U.S.?
- What are the strategies to be adopted for clinical implementation of NIPTs for all pregnancies?
- What is the “patient directed model” for the integration of NIPTs into healthcare systems?
- How does the detection rate of NIPTs compare with the rates of conventional maternal serum screening tests?
- What are the genetic disorders detectable by different prenatal screening and diagnostic tests?
- What is the reliability of amniocentesis and CVS results?
- Is the future of invasive diagnostic tests uncertain?
- Do the intact fetal cells in maternal blood have use in noninvasive prenatal diagnosis (NIPD)?
- What about the use of trophoblast cells obtained from cervix in NIPD?
- How many genetic conditions are detected during newborn genetic screening in the U.S.?
- What is the status of newborn genetic screening in developed, developing and other countries?
- What are the different preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD)?
- What are the currently available PGS/PGD testing products available in the market?
- What are the currently used advanced technologies in prenatal, newborn and PGD testing?
- What is the global market for fetal ultrasound screening, through 2021?
- Who are the market leaders in fetal ultrasound systems?
- What is the global and regional market for prenatal screening by fetal MRI, through 2021?
- What is the global and regional market for maternal screening tests, through 2021?
- What is the global and regional market for NIPTs using cffDNA, through 2021?
- What is the global and regional market for invasive prenatal diagnostic tests, through 2021?
- What is the global and regional market for newborn screening tests, through 2021?
- What is the global market for newborn screening tests by technology, through 2021?
- What is the global and regional market for pre-implantation genetic diagnosis (PGD), through 2021?
- What is the global market for molecular diagnostics, through 2021?
- What is the global market for liquid biopsy tests, through 2021?
- What is the overall global market for personalized medicine diagnostics, through 2021?
- What is the overall global market for in vitro diagnostics (IVD), through 2021?
- What are the recent acquisition activities in prenatal screening industry?
- What are the important factors that drive the growth of prenatal & newborn genetic testing industry?
- What are the challenges faced by the prenatal screening industry?
- What are the possible future developments in prenatal screening industry?

Countries Covered
Global, Europe, USA, Canada, Russia, Middle-East, Australia, Asia, Africa, South America, China, India

Table Of Contents

GLOBAL PRENATAL and MATERNAL DIAGNOSTIC MARKET TO 2021
1.0 Introduction 24
1.1 Executive Summary 25
1.2 Objectives of this Report 28
1.3 Key Questions Answered in this Report 28
2.0 Prenatal Pregnancy Complications: An Overview 31
2.1 Advanced Maternal Age (AMA) 31
2.1.1 Risk of Down Syndrome with Increased AMA 31
2.1.2 Risk of Miscarriage with Increased AMA 32
2.1.3 Risk of Cesarean Section with Increasing AMA 33
2.1.4 Risk of Gestational Diabetes with AMA 34
2.1.5 Risk for Pregnancy-Induced Hypertension with AMA 35
2.1.6 Risk of Placenta Previa with AMA 35
2.1.7 Delayed First Pregnancy in the U.S. 36
2.1.7.1 First Birth Rates for 35-39 Aged U.S. Women by Race 37
2.2 Pre-Existing Maternal Medical Conditions 39
2.2.1 Pregnancy Outcome in Women with Renal Disease 40
2.2.2 Pregnancy Outcome in Diabetic Women 41
2.2.3 Pregnancy Outcome in Women with Pre-Existing Thyroid Disease 41
2.2.4 Pregnancy Outcome in Obese Women 41
2.2.5 Pregnancy Outcome in Asthmatic Women 42
2.2.6 Pregnancy Outcome in Women with Epilepsy 43
2.2.7 Pregnancy Outcome in Women with Autoimmune Diseases 43
2.2.8 Pregnancy Outcome in Women with Hemoglobinopathies 44
2.2.9 Pre-Existing Chronic Diseases among Women of Reproductive Ages in the U.S. 45
2.2.9.1 Chronic Disease Risk Behaviors and Risk Factors among Women of Reproductive Ages in the U.S. 46
2.3 Medical Conditions Occurring During Pregnancy 47
2.3.1 Preeclampsia (Toxemia) 47
2.3.1.1 Prevalence of Preeclampsia in the U.S. 47
2.3.2 Gestational Diabetes in the U.S. 49
2.3.2.1 Prevalence of Gestational Diabetes in the U.S. 49
2.4 Pregnancy-Related Issues 51
2.4.1 Premature Labor 51
2.4.1.1 Common Medical Complications in Premature Babies 52
2.4.1.2 Global Prevalence of Preterm Labor 52
2.4.1.3 Prevalence of Preterm Births in the U.S. by Stage 53
2.4.1.4 Prevalence of Preterm Births in the U.S. by Race/Ethnicity 53
2.4.1.5 Prevalence of Preterm Births in the U.S. by Plurality of Birth 54
2.4.1.6 Prevalence of Preterm Births in the U.S. by Maternal Age 55
2.4.1.7 Multiple Births in the U.S. 56
2.4.2 Placenta Previa 57
2.4.3 Breech Presentation 57
2.4.4 Meconium Stained Liquor 58
2.4.5 Oligohydramnios and Polyhydramnios 58
2.5 Fetal Problems 59
2.5.1 Fetal Growth Restriction 59
2.5.2 Imperforate Anus 60
2.5.3 Congenital Heart Disease 60
3.0 Types of Genetic Diseases in Fetuses: An Overview 62
3.1 Single Gene Disorders 62
3.1.1 Autosomal Dominant Genetic Disorders 62
3.1.1.1 Huntington Disease (HD) 63
3.1.1.2 Familial Hypercholesterolaemia (FH) 64
3.1.1.3 Marfan syndrome 64
3.1.1.4 Myotonic Dystrophy 65
3.1.2 Autosomal Recessive Genetic Disorders 67
3.1.2.1 Cystic Fibrosis (CF) 67
3.1.2.2 Canavan Disease 71
3.1.2.3 Neutropenia 72
3.1.2.4 Ellis-van Creveld Syndrome (EVC) 72
3.1.2.5 Familial Mediterranean fever (FMF) 73
3.1.2.6 Faconi Anemia (FA) 73
3.1.2.7 Gaucher Disease 74
3.1.2.8 Mucopolysaccharidosis (MPSs) 74
3.1.2.9 Phenylketonuria (PKU) 75
3.1.2.10 Sickle Cell Disease 75
3.1.2.11 Beta-Thalassaemia 76
3.1.2.12 Inheritance Pattern of Autosomal Recessive Genetic Disorders 77
3.1.2.13 Chances of Inheriting a Single Gene Disorder 80
3.1.2.14 Common Recessive Disease Traits in Selected Ethnic Groups 80
3.1.2.15 Comprehensive List of Common Single Gene Disorders 81
3.1.3 X-Linked Dominant Genetic Disorders 82
3.1.3.1 Hypophosphotemic Rickets 83
3.1.3.2 Incontinentia Pigmenti 83
3.1.3.3 Focal Dermal Hypoplasia 83
3.1.3.4 Orofaciodigital Syndrome 84
3.1.3.5 Inheritance of Sex-Linked Dominant Disorders 84
3.1.4 X-Linked Recessive Disorders 85
3.1.4.1 Lesch-Nyhan Syndrome 86
3.1.4.2 Menkes Disease (Kinky hair syndrome) 86
3.1.4.3 Hemophilia A and B 87
3.1.4.4 Fabry's Disease 88
3.1.4.5 Wiskott-Aldrich syndrome (WAS) 88
3.1.4.6 Bruton's Aggamaglobulinemia 89
3.1.4.7 Color Blindness 89
3.1.4.8 Complete Androgen Insensitivity Syndrome 90
3.1.4.9 Inheritance of X-Linked Recessive Traits 90
3.2 Chromosomal Disorders 92
3.2.1 47, XXY (Klinefelter Syndrome) 93
3.2.1.1 Prenatal Diagnosis of Klinefelter Syndrome 93
3.2.2 47, XYY Syndrome 94
3.2.2.1 Diagnosis of 47, XYY Syndrome 94
3.2.3 45, X Syndrome (Turner Syndrome) 94
3.2.3.1 Prenatal Diagnosis of Turner Syndrome 95
3.2.4 47, XXX (Triple X Syndrome) 96
3.2.4.1 Tests for Triple X Syndrome 96
3.2.5 Trisomy 21 (Down Syndrome) 96
3.2.5.1 Tests for Down Syndrome 97
3.2.5.2 Incidence of Down Syndrome by Maternal Age 98
3.2.5.3 Developmental Delay in Children with Down Syndrome 99
3.2.6 Trisomy 18 (Edward's Syndrome) 99
3.2.6.1 Prenatal Diagnosis of Trisomy 18 99
3.2.6.2 Clinical Manifestations of Trisomy 18 100
3.2.7 Trisomy 13 (Patau Syndrome) 100
3.2.7.1 Prenatal Diagnosis of Trisomy 13 101
3.2.8 Triploid Syndrome 102
3.2.8.1 Congenital Anomalies Associated with Triploidy 102
3.2.8.2 Prenatal Diagnosis of Triploidy 103
3.2.9 Prevalence of Trisomies in the U.S. 103
3.2.9.1 Trisomies and Abortions 104
3.2.10 Maternal Age-Related Frequencies of Aneuploid Fetuses 104
3.2.11 Clinical Features of Common Chromosomal Aneuploidy 105
3.2.12 Maternal Age and Chromosomal Aneuploidy 105
3.2.13 Sensitivity and Specificity of Maternal Serum and Ultrasound Tests for Aneuploids 106
3.3 Structural Chromosomal Abnormalities 107
3.3.1 Autosomal Deletions 107
3.3.1.1 Wolf-Hirschhorn Syndrome (WHS) 107
3.3.1.2 Cri du chat Syndrome 108
3.3.1.3 Langer-Giedion Syndrome 108
3.3.2 Common Autosomal Microdeletion Syndrome 109
3.3.2.1 Williams Syndrome 110
3.3.2.2 WAGR Syndrome 111
3.3.2.3 Prader-Willi Syndrome (PWS) 112
3.3.2.4 Angelman Syndrome 113
3.3.2.5 Miller-Dieker Syndrome 114
3.3.2.6 Smith-Magenis Syndrome (SMS) 114
3.3.2.7 Alagille Syndrome (ALGS) 115
3.3.2.8 CATCH 22 Syndrome 116
3.3.2.9 DiGeorge Syndrome 117
3.3.3 Autosomal Duplication Syndromes 117
3.3.3.1 Beckwith-Wiedemann Syndrome (BWS) 118
3.3.3.2 Charcot-Marie-Tooth Disease Type 1A (CMT1A) 119
3.3.3.3 Cat-Eye Syndrome 120
3.3.4 Appropriate Technologies for the Detection of Microdeletions, Duplications and Copy Number Variants 121
4.0 Genetic Counseling: An Overview 122
4.1 Impact of Recent Advances in Clinical Genomics on Genetic Counseling 123
4.2 Genetic Counselors in DTC GT Industry 123
4.2.1 Types of Genetic Counseling Offered by DTC GT Companies 124
4.2.2 Roles of Genetic Counselors in DCT GT Industry 126
5.0 Prenatal Screening for Genetic Diseases: An Overview 126
5.1 Routine Prenatal Screening Tests 126
5.2 Less-Routine Prenatal Screening Tests 126
5.3 Beta Human Chorionic Gonadotropin (?-hCG) Screening Test 127
5.3.1 hCG Kits and Manufacturers 128
5.4 First Trimester Pregnancy-Associated Plasma Protein-A (PAPP-A) Screening Test 128
5.5 Maternal Serum Alpha-Fetoprotein (MSAFP) Screening Test 129
5.6 Second Trimester Serum ?-hCG Screening Test 129
5.7 Second Trimester Unconjugated Estriol (uE3) Screening Test 129
5.8 Second Trimester Inhibin-A Screening Test 130
5.9 Second Trimester Hexosaminidase Test 130
5.10 Second Trimester Triple-Screen Quad Screen Tests 130
5.11 Second Trimester Screening of Cell-Free Fetal DNA (cffDNA) 131
5.11.1 Sensitivity and Specificity of NIPTs 131
5.11.2 Diagnostic Applications of cffDNA 132
5.11.3 Time of Availability of cffDNA in Maternal Blood 132
5.11.4 The Cost of NIPTs 133
5.11.5 Cost of NIPTs by Product 133
5.11.6 History of Aneuploidy Testing from 1970s to 2011 134
5.11.7 NIPT Methods of Detecting Aneuploidy 134
5.11.7.1 Shotgun Method 134
5.11.7.2 Targeted Massively Parallel Sequencing (t-MPS) 135
5.11.7.3 Single Nucleotide Polymorphisms (SNPs) 135
5.11.8 Comparison of Amniocentesis and NIPT 135
5.11.9 Advantages of NIPTs 136
5.11.10 Disadvantages of NIPTs 137
5.11.11 Comparison of Performance Criteria for Commonly used Prenatal Tests 137
5.11.12 Comparison of NIPT Detection Rates with Traditional Tests 138
5.11.13 False Positive Rates of NIPTs Compared with Those of Traditional Tests 138
5.11.14 Fetal Genetic Disorders Detected by NIPTs and other Screening Tests 139
5.12 First Trimester Ultrasound Screening Test 139
5.12.1 Nuchal Translucency (NT) Screening Test 140
5.13 Magnetic Resonance Imaging (MRI) in Prenatal Screening 141
5.14 Prenatal Diagnosis of Genetic Disorders 141
5.14.1 Amniocentesis (AC) 142
5.14.1.1 Reliability of Amniocentesis 142
5.14.2 Chorionic Villus Sampling (CVS) 142
5.14.2.1 Reliability of CVS Test 143
5.14.3 Cordocentesis or Percutaneous Umbilical Blood Sampling 144
5.15 Advantages and Disadvantages of Prenatal Diagnostic Tests 144
5.16 Future of Invasive Prenatal Diagnostic Tests 145
5.16.1 Indispensability of Invasive Diagnostic Tests 146
5.17 Intact Circulating Fetal Cells for Noninvasive Prenatal Tests 146
5.17.1 Scheme for Isolating Intact Fetal Cells from Maternal Blood 148
5.18 Trophoblast Retrieval and Isolation from Cervix (TRIC) 149
6.0 Newborn Screening 150
6.1 Status of Newborn Screening in Developed and Developing Countries 151
6.2 Status of Newborn Screening in Middle East and North Africa (MENA) 151
6.3 Screening Tests Recommended for Newborns in the U.S. 152
6.4 Most Common Newborn Genetic Disorders 154
6.4.1 Phenylketonuria (PKU) 154
6.4.1.1 Screening Tests Used for Diagnosis of PKU 155
6.4.2 Congenital Hypothyroidism (CHT) 155
6.4.2.1 Inheritance of CHT 155
6.4.2.2 Signs and Symptoms of CHC 155
6.4.2.3 Diagnosis of CHT 155
6.4.3 Congenital Adrenal Hyperplasia 156
6.4.3.1 Inheritance of Congenital Adrenal Hyperplasia 156
6.4.3.2 Symptoms of Congenital Adrenal Hyperplasia 156
6.4.3.3 Diagnosis of Congenital Adrenal Hyperplasia 156
6.4.4 Galactosemia 156
6.4.4.1 Signs and Symptoms of Galactosemia 157
6.4.4.2 Diagnosis of Galactosemia 157
6.4.5 Sickle Cell Disease (SCD) 157
6.4.5.1 Symptoms of SCD 157
6.4.5.2 Diagnosis of SCD 157
6.4.6 Biotidinase Deficiency 158
6.4.6.1 Inheritance of Biotidinase Deficiency 158
6.4.6.2 Signs and Symptoms of Biotidinase Deficiency 158
6.4.6.3 Diagnosis of Biotidinase Deficiency 158
6.4.7 Homocystinuria 159
6.4.7.1 Signs and Symptoms of Homocystinuria 159
6.4.7.2 Diagnosis of Homocystinuria 160
6.4.8 Maple Syrup Urine Disease (MSUD) 160
6.4.8.1 Inheritance of MSUD 160
6.4.8.2 Diagnosis of MSUD 160
7.0 Preconception/Carrier Screening 161
7.1 Introduction 161
7.2 What are the Main Commercially Available Carrier Tests on the Market? 164
7.3 Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis (PGS/PGD) 167
7.4 PGS/PGD Technologies 167
7.4.1 Fluorescent in situ Hybridization (FISH) 167
7.4.2 Array Comparative Genome Hybridization (aCGH) 168
7.4.3 Single Nucleotide Polymorphism (SNP) Microarray 168
7.4.4 Oligonucleotide Genome Sequencing (OGS) 168
7.4.5 Express Genome Sequencing (EGS) 168
7.4.6 Next Generation Sequencing (NGS) 168
7.5 Strengths and Weaknesses of Currently Available PGS/PGD Technologies 169
7.6 Genetic Diseases Detected During PGD 169
7.7 PGS/PGD Testing Products in the Market 174
7.8 Cost of in vitro Fertilization and Related Procedures 176
8.0 Pregnancy, Prenatal, Newborn and PGD-Related Technologies: An Overview 178
8.1 Beta Human Chorionic Gonadotopin (?-hCG) Test 178
8.1.1 Setting up the Test Strip 178
8.1.2 Procedure of the Test 179
8.1.3 Interpretation of ?-hCG Test Result 179
8.2 Pregnancy Associated Plasma Protein-A (PAPP-A) Test 180
8.2.1 Principle of PAPP-A Test 180
8.3 Maternal Serum Alpha Fetoprotein (MSAFP) Test 180
8.3.1 Principle of MSAFP Test 180
8.4 Unconjugated Estriol (uE3) Test 181
8.4.1 Principle of uE3 Test 181
8.5 Inhibin A Test 181
8.5.1 Principle of Inhibin A Test 181
8.6 Fetal Karyotyping 182
8.7 Extended Banding Chromosome Studies 182
8.8 Innovation in Invasive Prenatal Diagnosis 182
8.8.1 Microarray: An Alternative for Karyotyping 183
8.8.2 Rapid Aneuploid Detection by Quantitative Fluorescent PCR (QF-PCR) 183
8.8.2.1 Principles of QF-PCR 183
8.8.3 Fluorescence in situ Hybridization (FISH) 184
8.8.3.1 The Format of Fish Test Result 186
8.8.3.2 Commonly Used FISH-Based Tests 186
8.8.3.3 Microdeletions/Microduplications Detectable by FISH 187
8.8.3.4 Types of FISH Probes and Their Functions 187
8.8.4 Microarray-Based Comparative Genomic Hybridization (array-CGH) 188
8.9 Advances in Prenatal Screening: The Power to Know Sooner 190
8.9.1 NIPTs: An Overview of Tests and Technologies 190
8.9.1.1 Harmony Test 191
8.9.1.2 InformaSeq 192
8.9.1.3 Panorama Test 193
8.9.1.4 Prena Test 194
8.9.1.5 NIFTY Test 194
8.9.1.6 IONA Test 195
8.9.1.7 Verifi Test 196
8.9.1.8 MaterniT GENOME Test 197
8.9.1.9 MaterniT21 PLUS Test 198
8.9.1.10 HeridiT UNIVERSAL Carrier Screen 199
8.9.2 Comparison of MaterniT21 PLUS, Verifi, Harmony and Panorama Tests 199
8.9.3 U.S. Patents for NIPTs by Company 200
8.9.3.1 Selected Issued Patents of NIPTs 201
8.9.3.2 Assignees of Major U.S. Patents and their Current Licensees 202
8.9.4 Global Availability of NIPTs 202
8.9.5 Cost Effectiveness of NIPTs 204
8.9.6 Clinical Implementation Strategies to be adopted for NIPTs 204
8.9.7 Integration of NIPT into Healthcare System: Patient-Directed Model 205
8.10 Tandem Mass Spectrometry (MS/MS) in Newborn Screening 207
8.11 Fetal Ultrasound in Prenatal Screening 208
8.11.1 Types of Fetal Ultrasound Exams 208
8.11.2 Best Obstetric and Gynecological Ultrasound Systems in the Market 208
8.11.3 Best Premium Fetal Ultrasound Machines 208
8.11.3.1 Philips Epiq 7 209
8.11.3.2 GE Voluson E8 209
8.11.3.3 GE Voluson E10 210
8.11.3.4 Samsung UGEO WS80A 210
8.11.4 High-End Systems 211
8.11.4.1 Philips Epiq 5 211
8.11.4.2 Philips Affinity 70 212
8.11.4.3 GE Voluson E6 212
8.11.4.4 GE Voluson S8 212
8.11.5 Midrange Systems 213
8.11.5.1 Philips Affinity 50 213
8.11.5.2 GE Voluson S6 214
8.11.5.3 Samsung AccuVix A30 214
8.11.5.4 Philips Clear Vue 650 214
8.11.6 Economy Systems 215
8.11.6.1 Philips Clear Vue 550 215
8.11.6.2 GE Logiq P5 215
8.11.6.3 Samsung H60 216
8.11.6.4 Alpinion Ecube 7 216
8.11.7 Portable Systems 216
8.11.7.1 GE Voluson 1 217
8.11.7.2 Samsung UGEO HM70A 217
8.12 Therapeutic Genome Editing: A Breakthrough Technology 217
8.12.1 Genome Editing Technologies 218
8.12.1.1 Growing Popularity of CRISPR Kits 218
8.12.2 Therapeutic Applications of Genome Editing 219
8.12.3 The First Genetically Modified Human Embryos 220
9.0 Market Analysis 221
9.1 Preconception/Carrier Screen Market Analysis 221
9.1.1 Major Players in the Preconception/Carrier Testing Market 223
9.1.2 Market Size of Multi-Panel and Expanded Screening Market 226
9.2 Prenatal Screening and Diagnostics: Market Overview 228
9.1 Global Market for Fetal Ultrasound 228
9.1.1 Market Leaders in Fetal Ultrasound 230
9.2 Global Market for Prenatal MRI Screening 232
9.3 Global Market for Maternal Serum Screening Tests 233
9.4 Global Market for Noninvasive Prenatal Tests (NIPTs) using cffDNA 235
9.4.1 Global Market for NIPTs by Product 236
9.5 Global Market for Prenatal Diagnostic Invasive Tests 237
9.6 Global Market for Newborn Screening for Genetic Diseases 238
9.6.1 Newborn Screening Market by Technology 239
9.7 Global Market for Preimplantation Screening/Diagnosis (PGS/PGD) 246
10.0 Other Genetic Testing-Related Markets 248
10.1 Emerging Trends in Molecular Diagnostics Market 248
10.2 Emerging Trends in Liquid Biopsy Market 250
10.3 Emerging Trends in Personalized Medicine Diagnostics Market 251
10.4 Emerging Trends in in vitro Diagnostics (IVD) Market 253
11.0 Market SWOT and Strategy Analysis 256
11.1 Acquisition Activities in Prenatal Screening Industry 256
11.1.1 Acquisition of BlueGenome by Illumina 256
11.1.2 Illumina's Acquisition of Verinata 256
11.1.3 Eurofin's Joint Venture with Emory Genetics Laboratory 256
11.1.4 Roche's Acquisition of Ariosa Diagnostics 256
11.1.5 Cooper Surgical's Acquisition of Reprogenetics 256
11.2 Market Drivers 257
11.3 Market Restraints 257
11.4 Future of Prenatal Screening 257
11.5 Legislation Mandating Newborn Screening by Geography 258
11.5.1 Newborn Screening Programs in Americas 258
11.5.2 Newborn Screening Programs in Asia/Pacific 258
11.5.3 Newborn Screening Programs in Europe 258
11.5.4 Newborn Screening Programs in Middle East and Northern Africa 259
11.6 Ethical Voices against Problamatic Applications of NIPT and NIPD 259
11.7 Clinical Implemention of NIPTs 260
11.7.1 Implementation of NIPTs in Developed Countries 260
11.7.3 Implementation of NIPTs in Developing and Under-Developed Countries 261
11.8 Adoption Rates for Different Prenatal Tests in the U.S. 261
12.0 Company Profiles 263
12.1 23andMe Inc. 263
12.1.1 23andMe's Agreement with Pfizer 264
12.1.2 23andMe's Agreement with Genentech 264
12.1.3 FDA's Approval for 23andMe's Screening Test for Bloom Syndrome 264
12.2 Abbott Laboratories 264
12.2.1 ARCHITECT AFP Assay 265
12.3 Abbott Molecular Inc. 265
12.3.1 AneuVysion 265
12.3.2 Cystic Fibrosis Genotyping Assay 265
12.4 Abcam plc 266
12.4.1 hCG Human ELISA Kit 266
12.5 AB Sciex LLC 266
12.6 Adaltis S.r.l 267
12.6.1 CLIAgen Free Beta-hCG Kit 267
12.7 Adaptive Biotechnologies Corp. 267
12.7.1 ImmunoSEQ Platform 267
12.7.2 ClonoSEQ 268
12.7.3 Pipeline 268
12.7.3.1 Quantifying Tumor Infiltration Lymphocytes in Solid Tumors 268
12.7.3.2 Measuring Immune Reconstitution Post Transplant 268
12.7.3.3 Diagnosing Cutaneous T-Cell Lymphoma (CTCL) 268
12.7.3.4 Therapeutics 268
12.8 Affymetrix Inc. 269
12.8.1 Microarray Solutions 269
12.8.2 Affymetrix's Collaborating Partners 270
12.8.3 Affymetrix's RandD Investment 270
12.9 Agena Biosciences Inc. 271
12.9.1 MassARRAY System 271
12.9.2 Acquisition of Sequenom's Bioscience Business by Agena Biosciences 271
12.10 Agilent Technologies Inc. 272
12.10.1 SureScan Microarray Scanner 272
12.10.2 OneSeq 272
12.11 Ambry Genetics Corp. 273
12.11.1 Clinical Diagnostic Tests 273
12.12 Analogic Corp. 274
12.12.1 Flex Focus 500 274
12.12.1 SonixTouchQ+ 275
12.12.3 SonixSP Q+ 275
12.13 Ariosa Diagnostics Inc. 275
12.13.1 Harmony Test 275
12.13.2 Granting of Licenses to Harmony Test 276
12.14 Ansh Labs 276
12.14.1 picoPAPP-A ELISA Kit 276
12.14.2 Inhibin A ELISA Kit 276
12.15 Appistry Inc. 277
12.15.1 GenomePilot 277
11.15.2 Ayrris for NGS Analysis 277
12.15.3 Variant Annotation and Analysis Suite 277
12.15.4 CloudDx Translational 277
12.15.5 CloudDx Clinical 277
12.15.6 Appistry's Partnership with LifeMap Sciences 278
12.16 ARUP Laboratories 278
12.16.1 Prenatal Screening and Diagnosis 278
12.16.2 Next-Generation Sequencing (NGS) 278
12.16.3 Noninvasive Prenatal Test for Aneuploids 279
12.17 AssureRx Health Inc. 279
12.17.1 GeneSight Psychotropic 279
12.17.2 GeneSight Analgesic 279
12.17.3 GeneSight ADHD 279
12.17.4 GeneSight MTHFR 280
12.18 Asuragen Inc. 280
12.18.1 AmplideX FMR1 PCR 280
12.18.2 AmplideX FMR1 mPCR 280
12.18.3 AmplideX Controls 280
12.18.4 Quantidex Pan Cancer Kit 281
12.18.5 Quantidex BCR/ABL1 Quant Kit 281
12.18.6 Quantidex DNA Assay 281
12.18.7 Signature Technology 281
12.18.8 Signature KRAS Mutations 281
12.18.9 Signature BRAF Mutations 281
12.18.10 Signature LTx v2.0 282
12.18.11 Signature NPM1 Mutations 282
12.19 Athena Diagnostics Inc. 282
12.20 AutoGenomics Inc. 282
12.20.1 INFINITI System 283
12.21 Base4 Innovation Ltd. 283
12.21.1 Microdroplet Sequencing 283
12.22 Beckman Coulter Inc. 283
12.22.1 SPRIworks System I for Illumina Genome Analyzer 284
12.22.2 SPRIworks HT for Illumina NGS Platform 284
12.22.3 SPRIselect Reagent Kit 284
12.22.4 Automated Sample Preparation 284
12.22.5 Genomic Services 284
12.22.6 Access Total Beta-hCG Reagent 285
12.22.7 Access Inhibin A Assay 285
12.23 erry Genomics Co., Ltd. 285
12.23.1 Bambni Test 285
12.23.2 Berry's Partnership with Illumina 285
12.24 Bina Technologies Inc. 286
12.24.1 Bina RAVE 286
12.24.2 Bina AAiM 286
12.24.3 Bina's Collaboration with AsraZeneca 286
12.25 Bio-Rad (Israel) Laboratories Inc. 287
12.26 BGI 287
12.27 Blueprint Genetics Oy 288
12.27.1 Services 288
12.28 Boreal Genomics Inc. 288
12.28.1 OnTarget Mutation Detection System 289
12.28.2 Aurora Platform 289
12.29 Cambridge Epigenetix Ltd. 289
12.29.1 TrueMethyl Seq Kit 289
12.29.2 TrueMethyl Array 290
12.30 Caris Lifesciences 290
12.30.1 ADAPT Biotargeting System 290
12.30.2 Caris Molecular Intelligence 290
12.30.3 Collaboration between Caris Lifesciences and Syapse 290
12.31 CeGaT GmbH 291
12.31.1 NGS Service 291
12.31.2 ADME Research Panel 291
12.31.3 Forschungsexom 292
12.32 Centogene AG 292
12.33 Chromsystems Instruments and Chemicals GmbH 292
12.34 Chronix Biomedical Inc. 293
12.34.1 Technology 293
12.35 Claritas Genomics Inc. 293
12.36 CLC bio A/S 296
12.36.1 Products 296
12.37 Combimatrix Corp. 297
12.37.1 CombiSNP Array for Prenatal Diagnosis 297
12.37.2 CombiPGS 297
12.38 Contec Medical Systems Co., Ltd. 303
12.38.1 CMS600P B-Ultrasound Diagnostic System 303
12.38.2 CMS600B3 B-Ultrasound Diagnostic System 303
12.39 Coriell Life Sciences Inc. 303
12.39.1 GeneDose 303
12.40 Correlagen Diagnostics Inc. 304
12.41 Counsyl Inc. 306
12.41.1 Family Prep Screen 306
12.41.2 Informed Pregnancy Screen 306
12.41.3 Inherited Cancer Screen 307
12.42 Courtagen Life Sciences Inc. 307
12.43 Creative Diagnostics 307
12.43.1 Alpha-Fetoprotein, AFP ELISA Kit 308
12.43.2 hCG ELISA Kit 308
12.43.3 Human Free Estriol ELISA Kit 308
12.44 Cynvenio Biosystems Inc. 308
12.44.1 LiquidBiopsy 309
12.44.2 ClearID 309
12.44.3 Thermo Fisher's Distribution Agreement with Crynvenio 309
12.44.4 Cynvenio's Collaboration with the University of Southern Denmark 309
12.45 Diagnostic Automation/Cortez Diagnostics Inc. 309
12.46 Demeditec Diagnostics GmbH 310
12.46.1 Estriol, Free/Uncojugated ELISA 310
12.47 DRG International Inc. 310
12.47.1 DRG PAPP-A ELISA 311
12.48 DNA Electronics Ltd. 311
12.48.1 Genalysis 311
12.49 DNA Link Inc. 311
12.49.1 Services 312
12.49.2 Partnership between Affymetrix and DNA Link Inc. 312
12.49.3 DNAGPS 312
12.49.4 AccuID 313
12.50 DNAnexus Inc. 313
12.50.1 Adoption of DNAnexus' Cloud Genomics Platform by Natera 313
12.51 Eagle Biosciences Inc. 314
12.51.1 Alport Syndrome Kit 314
12.51.2 Free Beta-hCG ELISA 314
12.52 Eagle Genomics Ltd. 314
12.52.1 EagleCore 315
12.52.2 EagleNsembl 315
12.53 Enzymatics Inc. 315
12.53.1 Reagents 315
12.53.2 SPARK DNA Sample Preparation Kit 315
12.54 Esoate SpA 316
12.54.1 MyLabGamma 316
12.54.2 MyLab GOLD Platform 316
12.54.3 MyLab 50 316
12.54.4 MyLab 40 316
12.54.5 MyLab 25Gold 317
12.55 Eurofins MWG Operon Inc. 317
12.55.1 Products and Services 317
12.56 Exiqon A/S 318
12.56.1 Products and Services 318
12.57 Fakuda Denshi Co., Ltd. 319
12.57.1 UF-400AX 319
12.57.2 UF-550XTD 319
12.57.3 UF-760AG 320
12.57.4 UF-870AG 320
12.58 GATC Biotech AG 321
12.58.1 Sanger Sequencing 321
12.59 GE Healthcare Ltd. 321
12.59.1 VScan 322
12.59.2 VScan with Dual Probe 322
12.59.3 Logiq P5 322
12.59.4 Logiq P6 322
12.59.5 GE Venue 50 322
12.59.6 GE Venue 40 323
12.59.7 Logiq S8 323
12.59.8 Logiq E9 323
12.60 GenapSys Inc. 323
12.60.1 GENIUS 323
12.61 Gene by Gene Ltd. 323
12.62 Genection Inc. 324
12.63 GeneDx Inc. 325
12.63.1 Cytogenetics and Biochemical Tests 325
12.63.2 Deletion/Duplication Analysis 326
12.63.3 Carrier Mutation-Specific Testing 326
12.64 GenePeeks Inc. 326
12.64.1 Matchright Technology 327
12.65 Genesis Genetics 327
12.65.1 GeniSeq24 327
12.65.2 UltraPGD 327
12.65.3 ArrayCGH 327
12.66 Genetadi Biotech S.L. 328
12.66.1 AMNIOCHIP 328
12.66.2 FERTICHIP 328
12.66.3 PRENATAL GENE 328
12.67 Genoma Group Srl 329
12.68 Genomed AG 329
12.68.1 Aneufast 329
12.69 GenPath Diagnostics 330
12.69.1 InheriGen, InheriGen Plus and InheriGen Tx 330
12.69.2 Prenatal Tests 330
12.70 Genway Biotech Inc. 330
12.71 Good Start Genetics Inc. 331
12.71.1 EmbryVu 331
12.72 Hitachi Medical Systems America Inc. 331
12.72.1 Arietta 70 331
12.72.2 ProSound Alpha 7 331
12.72.3 Noblus 332
12.72.4 ProSound F37 332
12.73 Hologic Inc. 332
12.73.1 InPlex CF Molecular Test 332
12.73.2 Rapid fFN Test 332
12.74 Illumina Inc. 333
12.74.1 The Verifi Prenatal Test 333
12.75 INEX Innovations Exchange Pte Ltd. 334
12.75.1 iGene 335
12.75.2 FlashFISH 335
12.75.3 INEX's Collaborative Agreement with BGI 335
12.76 Invitae Corp. 335
12.77 Laboratory Corporation of America Inc. 336
12.77.1 Services 336
12.78 LifeCodexx AG 337
12.78.1 Prena Test 337
12.79 Monobind Inc. 337
12.79.1 Fertility VAST Panel: HCG, FSH, LH, SPRL 337
12.79.2 PAPP-A Test 338
12.80 Multiplicom NV 338
12.80.1 Clarigo 338
12.81 Myriad Genetics 338
12.82 Natera Inc. 339
12.82.1 Panorama Prenatal Screen 339
12.82.1.1 Accuracy of Panorama Test 339
12.82.1.2 Minimal False Negatives in Panorama 340
12.82.2 Horizon Carrier Screening 340
12.82.3 Spectrum Preimplantation Test 341
12.82.4 Natera's 24-chromosome PGS 342
12.82.5 Anora Miscarriage Test 342
12.82.6 Prenatal Paternity Test 342
12.82.7 Agreement between Natera and LifeLabs 342
12.83 Natus Medical Inc. 343
12.83.1 ABaer 343
12.83.2 Algo 5 343
12.83.3 Algo 3i 343
12.83.4 AuDX 344
12.83.5 Echo-Screen III 344
12.84 NewGene Ltd. 344
12.84.1 Hereditary Disorders 345
12.84.2 Alport Syndrome 345
12.84.3 Aortopathy Panel 345

Companies Mentioned

23andMe Inc., Abbott Laboratories, Abbott Molecular Inc., Abcam plc, AB Sciex LLC, Adaltis S.r.l, Adaptive Biotechnologies Corp., Affymetrix Inc., Agena Biosciences Inc., Agilent Technologies Inc., Ambry Genetics Corp., Analogic Corp., Ariosa Diagnostics Inc., Ansh Labs, Appistry Inc., ARUP Laboratories, AssureRx Health Inc., Asuragen Inc., Athena Diagnostics Inc., AutoGenomics Inc., Base4 Innovation Ltd., Beckman Coulter Inc., Berry Genomics Co., Ltd., Bina Technologies Inc., Bio-Rad (Israel) Laboratories Inc., BGI, Blueprint Genetics Oy, Boreal Genomics Inc., Cambridge Epigenetix Ltd., Claris Lifesciences, CeGaT GmbH, Centogene AG, Chromosystems Instruments and Chemicals GmbH, Chronix Biomedical Inc., Claritas Genomics Inc., CLC bio A/S, Combimatrix Corp., Contec Medical Systems Co., Ltd., Coriell Life Sciences Inc., Correlagen Diagnostics Inc., Counsyl Inc., Courtagen Life Sciences Inc., Creative Diagnostics, Cynvenio Biosystems Inc., Diagnostic Automation/Cortex Diagnostics Inc., Demeditec Diagnostics GmbH, DRG International Inc., DNA Electronics Ltd., DNA Link Inc., DNAnexus Inc., Eagle Biosciences Inc., Eagle Genomics Ltd., Enzymatics Inc., Esoate SpA, Eurofins MWG Operon Inc., Exiqon A/S, Fakuda Denshi Co, Ltd., GATC Biotech AG, GE Healthcare Ltd., GenapSys Inc., Gene by Gene Ltd., Genection Inc., GeneDx Inc., GenePeeks Inc., Genesis Genetics, Genetadi Biotech S.L., Genoma Group Srl, Genomed AG, GenPath Diagnostics, Genway Biotech Inc., Good Start Genetics Inc., Hitachi Medical Systems America Inc., Hologic Inc., Illumina Inc., INEX Innovations Exchange Pte., Ltd., Invitae Corp., Laboratory Corporation of America Inc., LifeCodexx AG, Monobind Inc., Multiplicom NV, Myriad Genetics, Natera Inc., Natus Medical Inc., NewGene Ltd., NIPD Genetics Ltd., Oxford Gene Technology, Parabase Genomics Inc., Pathway Genomics Corp., PerkinElmer Life and Analytical Sciences Inc., Premaitha Health PLC, Progenity Inc., Qiagen N.V., Quest Diagnostics Inc., Ravgen Inc., Recombine Inc., Reproductive Genetics Institute Inc., Reprogenetics Laboratories, Sebia Inc., Sequenom Inc., SeraCare Life Sciences Inc., Siemens Healthcare, Sophia Genetics SA, SpOtOn Clinical Diagnostics Ltd., Stra Biotech GmbH, Sygnis AG, SynapDx Corp., Thermo Fisher Scientific Inc., Transgenomic Inc., Trivitron Healthcare Private Ltd., Trovagene Inc., Tute Genomics Inc., Warp Drive Bio LLC, ZS Genetics Inc., Zymo Research Corporation

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