Global Prenatal, Maternal & Carrier Diagnostic Market Analysis to 2021

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Published in Sept 2016. Download sample pages here

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

  • Fetal Ultrasound
  • Prenatal MRI Screening
  • Carrier Screening Tests
  • 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)

 

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Description

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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.

 

 

Objectives of this Report

Since the 1960s, technologies for testing fetuses for conditions including trisomies have been continually advancing. The initial nongenetic testing such as ultrasound and serum screening for protein level markers, have developed remarkably throughout the years. Yet, these conventional tests are limited in sensitivity and specificity. Parallel to the development of these conventional technologies, two invasive techniques called amniocentesis and chorionic villus sampling (CVS) were introduced in 1980s to offer near 100% detection rates for trisomies. Yet, the chances of injury to the fetus and the consequence of miscarriages deterred both patients and obstetricians from using these techniques and to this date the techniques are used in high-risk pregnancies for the confirmation of positive results from screening tests.

 

When human genome sequencing was successfully accomplished, experts in the healthcare industry expected that DNA sequencing would mainly focus on genetic diseases in adults. Instead, the impact of sequencing technology has been primarily on prenatal, newborn and PGD tests. In a short span of four years, the different types of maternal serum screening tests and fetal ultrasound tests are getting gradually replaced by the new technology of  non-invasive prenatal tests (NIPTs). In the past four years, hundreds and thousands of these new tests have been performed in screening cffDNA from 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
  • Carrier 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 390 page report strengthened with over 280 figures and tables. Published in Sept 2016, the GLOBAL PRENATAL, MATERNAL & SCREENING 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.

 

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.?
  • What strategies should be adopted for clinical implementation of NIPTs for all pregnancies?
  • What is the “patient directed model” for 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 intact fetal cells in maternal blood have use in noninvasive prenatal diagnosis (NIPD)?
  • What about the use of trophoblast cells obtained from the cervix in NIPD?
  • How many genetic conditions are detected during newborn genetic screening in the S.?
  • What is the status of newborn genetic screening in developed, developing and other countries?
  • What are the differences between preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD)?
  • What PGS/PGD testing products are currently available on the market?
  • What advanced technologies are currently used 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 and newborn genetic testing industry?
  • What are the challenges faced by the prenatal screening industry?
  • What are the possible future developments in prenatal screening industry?

 

Table of Contents

1.0       Introduction    22

1.1       Executive Summary      23

1.2       Objectives of this Report           25

1.3       Key Questions Answered in this Report 25

2.0       Prenatal Pregnancy Complications: An Overview      27

2.1       Advanced Maternal Age (AMA)           27

2.1.1    Risk of Down Syndrome with Increased AMA   27

2.1.2    Risk of Miscarriage with Increased AMA          28

2.1.3    Risk of Cesarean Section with Increasing AMA 29

2.1.4    Risk of Gestational Diabetes with AMA 30

2.1.5    Risk for Pregnancy-Induced Hypertension with AMA    31

2.1.6    Risk of Placenta Previa with AMA        31

2.1.7    Delayed First Pregnancy in the U.S.       32

2.1.7.1 First Birth Rates for 35-39 Aged U.S. Women by Race  33

2.2       Pre-Existing Maternal Medical Conditions         34

2.2.1    Pregnancy Outcome in Women with Renal Disease        35

2.2.2    Pregnancy Outcome in Diabetic Women 36

2.2.3    Pregnancy Outcome in Women with Pre-Existing Thyroid Disease         36

2.2.4    Pregnancy Outcome in Obese Women   36

2.2.5    Pregnancy Outcome in Asthmatic Women         37

2.2.6    Pregnancy Outcome in Women with Epilepsy    38

2.2.7    Pregnancy Outcome in Women with Autoimmune Diseases        38

2.2.8    Pregnancy Outcome in Women with Hemoglobinopathies          39

2.2.9    Pre-Existing Chronic Diseases among Women of Reproductive Ages in the U.S. 40

2.2.9.1 Chronic Disease Risk Behaviors and Risk Factors among Women of Reproductive Ages in the U.S.        41

2.3       Medical Conditions Occurring During Pregnancy           42

2.3.1    Preeclampsia (Toxemia) 42

2.3.1.1 Prevalence of Preeclampsia in the U.S. 42

2.3.2    Gestational Diabetes in the U.S. 44

2.3.2.1 Prevalence of Gestational Diabetes in the U.S.  44

2.4       Pregnancy-Related Issues          46

2.4.1    Premature Labor           46

2.4.1.1 Common Medical Complications in Premature Babies   47

2.4.1.2              Global Prevalence of Preterm Labor       47

2.4.1.3 Prevalence of Preterm Births in the U.S. by Stage          48

2.4.1.4 Prevalence of Preterm Births in the U.S. by Race/Ethnicity        48

2.4.1.5 Prevalence of Preterm Births in the U.S. by Plurality of Birth     49

2.4.1.6 Prevalence of Preterm Births in the U.S. by Maternal Age          50

2.4.1.7 Multiple Births in the U.S.       51

2.4.2    Placenta Previa 52

2.4.3    Breech Presentation      52

2.4.4    Meconium Stained Liquor         52

2.4.5    Oligohydramnios and Polyhydramnios   53

2.5       Fetal Problems 54

2.5.1    Fetal Growth Restriction           54

2.5.2    Imperforate Anus         54

2.5.3    Congenital Heart Disease          55

3.0       Types of Genetic Diseases in Fetuses: An Overview    56

3.1       Single Gene Disorders  56

3.1.1    Autosomal Dominant Genetic Disorders 56

3.1.1.1 Huntington Disease (HD)         57

3.1.1.2 Familial Hypercholesterolaemia (FH)   58

3.1.1.3 Marfan syndrome        58

3.1.1.4 Myotonic Dystrophy    59

3.1.2    Autosomal Recessive Genetic Disorders 60

3.1.2.1 Cystic Fibrosis (CF)     61

3.1.2.2 Canavan Disease         65

3.1.2.3 Neutropenia    65

3.1.2.4 Ellis-van Creveld Syndrome (EVC)      66

3.1.2.5 Familial Mediterranean fever (FMF)     66

3.1.2.6 Faconi Anemia (FA)    66

3.1.2.7 Gaucher Disease          67

3.1.2.8 Mucopolysaccharidosis (MPSs) 67

3.1.2.9 Phenylketonuria (PKU) 68

3.1.2.10 Sickle Cell Disease      69

3.1.2.11 Beta-Thalassaemia       69

3.1.2.12 Inheritance Pattern of Autosomal Recessive Genetic Disorders   70

3.1.2.13 Chances of Inheriting a Single Gene Disorder   73

3.1.2.14 Common Recessive Disease Traits in Selected Ethnic Groups    73

3.1.2.15 Comprehensive List of Common Single Gene Disorders 74

3.1.3    X-Linked Dominant Genetic Disorders  75

3.1.3.1 Hypophosphotemic Rickets      76

3.1.3.2 Incontinentia Pigmenti 76

3.1.3.3 Focal Dermal Hypoplasia         76

3.1.3.4 Orofaciodigital Syndrome        77

3.1.3.5 Inheritance of Sex-Linked Dominant Disorders 77

3.1.4    X-Linked Recessive Disorders  78

3.1.4.1 Lesch-Nyhan Syndrome           79

3.1.4.2 Menkes Disease (Kinky hair syndrome) 79

3.1.4.3 Hemophilia A and B    80

3.1.4.4 Fabry’s Disease           80

3.1.4.5 Wiskott-Aldrich syndrome (WAS)        81

3.1.4.6 Bruton’s Aggamaglobulinemia 82

3.1.4.7 Color Blindness           82

3.1.4.8 Complete Androgen Insensitivity Syndrome      83

3.1.4.9 Inheritance of X-Linked Recessive Traits          83

3.2       Chromosomal Disorders 85

3.2.1    47, XXY (Klinefelter Syndrome)          86

3.2.1.1 Prenatal Diagnosis of Klinefelter Syndrome      86

3.2.2    47, XYY Syndrome     87

3.2.2.1 Diagnosis of 47, XYY Syndrome         87

3.2.3    45, X Syndrome (Turner Syndrome)     87

3.2.3.1 Prenatal Diagnosis of Turner Syndrome 88

3.2.4    47, XXX (Triple X Syndrome) 88

3.2.4.1 Tests for Triple X Syndrome    89

3.2.5    Trisomy 21 (Down Syndrome)  89

3.2.5.1 Tests for Down Syndrome        89

3.2.5.2 Incidence of Down Syndrome by Maternal Age 90

3.2.5.3 Developmental Delay in Children with Down Syndrome 91

3.2.6    Trisomy 18 (Edward’s Syndrome)         92

3.2.6.1 Prenatal Diagnosis of Trisomy 18         92

3.2.6.2 Clinical Manifestations of Trisomy 18  92

3.2.7    Trisomy 13 (Patau Syndrome)   93

3.2.7.1 Prenatal Diagnosis of Trisomy 13         94

3.2.8    Triploid Syndrome       94

3.2.8.1 Congenital Anomalies Associated with Triploidy          95

3.2.8.2 Prenatal Diagnosis of Triploidy 96

3.2.9    Prevalence of Trisomies in the U.S.       96

3.2.9.1 Trisomies and Abortions          96

3.2.10  Maternal Age-Related Frequencies of Aneuploid Fetuses           97

3.2.11  Clinical Features of Common Chromosomal Aneuploidy           98

3.2.12  Maternal Age and Chromosomal Aneuploidy    98

3.2.13  Sensitivity and Specificity of Maternal Serum and Ultrasound Tests for Aneuploids        99

3.3       Structural Chromosomal Abnormalities 100

3.3.1    Autosomal Deletions    100

3.3.1.1 Wolf-Hirschhorn Syndrome (WHS)      100

3.3.1.2 Cri du chat Syndrome  101

3.3.1.3 Langer-Giedion Syndrome       101

3.3.2    Common Autosomal Microdeletion Syndrome   102

3.3.2.1 Williams Syndrome     103

3.3.2.2 WAGR Syndrome       104

3.3.2.3 Prader-Willi Syndrome (PWS) 104

3.3.2.4 Angelman Syndrome   106

3.3.2.5 Miller-Dieker Syndrome          106

3.3.2.6 Smith-Magenis Syndrome (SMS)         107

3.3.2.7 Alagille Syndrome (ALGS)      108

3.3.2.8 CATCH 22 Syndrome 108

3.3.2.9 DiGeorge Syndrome    109

3.3.3    Autosomal Duplication Syndromes        110

3.3.3.1 Beckwith-Wiedemann Syndrome (BWS)          110

3.3.3.2 Charcot-Marie-Tooth Disease Type 1A (CMT1A)         111

3.3.3.3 Cat-Eye Syndrome      112

3.3.4    Appropriate Technologies for the Detection of Microdeletions, Duplications and Copy Number Variants  113

4.0       Genetic Counselling: An Overview     114

4.1       Impact of Recent Advances in Clinical Genomics on Genetic Counselling           115

4.2       Genetic Counsellors in DTC GT Industry           115

4.2.1    Types of Genetic Counselling Offered by DTC GT Companies   116

4.2.2    Roles of Genetic Counsellors in DCT GT Industry         116

5.0       Prenatal Screening for Genetic Diseases: An Overview          118

5.1       Routine Prenatal Screening Tests           118

5.2       Less-Routine Prenatal Screening Tests   118

5.3       Beta Human Chorionic Gonadotropin (β-hCG) Screening Test    119

5.3.1    hCG Kits and Manufacturers     120

5.4       First Trimester Pregnancy-Associated Plasma Protein-A (PAPP-A) Screening Test          120

5.5       Maternal Serum Alpha-Fetoprotein (MSAFP) Screening Test      121

5.6       Second Trimester Serum β-hCG Screening Test 121

5.7       Second Trimester Unconjugated Estriol (uE3) Screening Test     121

5.8       Second Trimester Inhibin-A Screening Test       122

5.9       Second Trimester Hexosaminidase Test 122

5.10     Second Trimester Triple-Screen Quad Screen Tests        122

5.11     Second Trimester Screening of Cell-Free Fetal DNA (cffDNA)   123

5.11.1  Sensitivity and Specificity of NIPTs     123

5.11.2  Diagnostic Applications of cffDNA      124

5.11.3  Time of Availability of cffDNA in Maternal Blood        124

5.11.4  The Cost of NIPTs       125

5.11.5  Cost of NIPTs by Product        125

5.11.6  History of Aneuploidy Testing from 1970s to 2011        126

5.11.7  NIPT Methods of Detecting Aneuploidy           126

5.11.7.1 Shotgun Method          126

5.11.7.2 Targeted Massively Parallel Sequencing (t-MPS)           126

5.11.7.3 Single Nucleotide Polymorphisms (SNPs)         126

5.11.8  Comparison of Amniocentesis and NIPT           127

5.11.9  Advantages of NIPTs   127

5.11.10 Disadvantages of NIPTs           128

5.11.11 Comparison of Performance Criteria for Commonly used Prenatal Tests 128

5.11.12 Comparison of NIPT Detection Rates with Traditional Tests      129

5.11.13 False Positive Rates of NIPTs Compared with Those of Traditional Tests           129

5.11.14 Fetal Genetic Disorders Detected by NIPTs and other Screening Tests    130

5.12     First Trimester Ultrasound Screening Test          130

5.12.1  Nuchal Translucency (NT) Screening Test        131

5.13     Magnetic Resonance Imaging (MRI) in Prenatal Screening         132

5.14     Prenatal Diagnosis of Genetic Disorders 132

5.14.1  Amniocentesis (AC)    133

5.14.1.1 Reliability of Amniocentesis    133

5.14.2  Chorionic Villus Sampling (CVS)         133

5.14.2.1 Reliability of CVS Test 134

5.14.3  Cordocentesis or Percutaneous Umbilical Blood Sampling         135

5.15     Advantages and Disadvantages of Prenatal Diagnostic Tests       135

5.16     Future of Invasive Prenatal Diagnostic Tests      136

5.16.1  Indispensability of Invasive Diagnostic Tests    137

5.17     Intact Circulating Fetal Cells for Noninvasive Prenatal Tests       137

5.17.1  Scheme for Isolating Intact Fetal Cells from Maternal Blood      139

5.18     Trophoblast Retrieval and Isolation from Cervix (TRIC) 140

6.0       Newborn Screening     141

6.1       Status of Newborn Screening in Developed and Developing Countries    142

6.2       Status of Newborn Screening in Middle East and North Africa (MENA)  142

6.3       Screening Tests Recommended for Newborns in the U.S.           143

6.4       Most Common Newborn Genetic Disorders       145

6.4.1    Phenylketonuria (PKU) 145

6.4.1.1 Screening Tests Used for Diagnosis of PKU      146

6.4.2    Congenital Hypothyroidism (CHT)        146

6.4.2.1 Inheritance of CHT      146

6.4.2.2 Signs and Symptoms of CHC   146

6.4.2.3 Diagnosis of CHT        146

6.4.3    Congenital Adrenal Hyperplasia 147

6.4.3.1 Inheritance of Congenital Adrenal Hyperplasia  147

6.4.3.2 Symptoms of Congenital Adrenal Hyperplasia  147

6.4.3.3 Diagnosis of Congenital Adrenal Hyperplasia   147

6.4.4    Galactosemia   147

6.4.4.1 Signs and Symptoms of Galactosemia   148

6.4.4.2 Diagnosis of Galactosemia       148

6.4.5    Sickle Cell Disease (SCD)        148

6.4.5.1 Symptoms of SCD       148

6.4.5.2 Diagnosis of SCD        148

6.4.6    Biotidinase Deficiency  149

6.4.6.1 Inheritance of Biotidinase Deficiency   149

6.4.6.2 Signs and Symptoms of Biotidinase Deficiency 149

6.4.6.3 Diagnosis of Biotidinase Deficiency     149

6.4.7    Homocystinuria 150

6.4.7.1 Signs and Symptoms of Homocystinuria           150

6.4.7.2 Diagnosis of Homocystinuria   151

6.4.8    Maple Syrup Urine Disease (MSUD)     151

6.4.8.1 Inheritance of MSUD  151

6.4.8.2 Diagnosis of MSUD    151

7.0       Preimplantation Genetic Screening & Genetic Diagnosis (PGS/PGD) 152

7.1       PGS/PGD Technologies 152

7.1.1    Fluorescent in situ Hybridization (FISH) 152

7.1.2    Array Comparative Genome Hybridization (aCGH)        153

7.1.3    Single Nucleotide Polymorphism (SNP) Microarray       153

7.1.4    Oligonucleotide Genome Sequencing (OGS)      153

7.1.5    Express Genome Sequencing (EGS)      153

7.1.6    Next Generation Sequencing (NGS)      153

7.2       Strengths and Weaknesses of Currently Available PGS/PGD Technologies          153

7.3       Genetic Diseases Detected During PGD 154

7.4       PGS/PGD Testing Products in the Market          159

7.5       Cost of in vitro Fertilization and Related Procedures       160

8.0       Pregnancy, Prenatal, Newborn and PGD-Related Technologies: An Overview          162

8.1       Beta Human Chorionic Gonadotopin (β-hCG) Test         162

8.1.1    Setting up the Test Strip 162

8.1.2    Procedure of the Test    163

8.1.3    Interpretation of β-hCG Test Result       163

8.2       Pregnancy Associated Plasma Protein-A (PAPP-A) Test 164

8.2.1    Principle of PAPP-A Test         164

8.3       Maternal Serum Alpha Fetoprotein (MSAFP) Test         164

8.3.1    Principle of MSAFP Test          164

8.4       Unconjugated Estriol (uE3) Test 165

8.4.1    Principle of uE3 Test    165

8.5       Inhibin A Test  165

8.5.1    Principle of Inhibin A Test        165

8.6       Fetal Karyotyping         166

8.7       Extended Banding Chromosome Studies 166

8.8       Innovation in Invasive Prenatal Diagnosis          166

8.8.1    Microarray: An Alternative for Karyotyping      167

8.8.2    Rapid Aneuploid Detection by Quantitative Fluorescent PCR (QF-PCR) 167

8.8.2.1 Principles of QF-PCR  167

8.8.3    Fluorescence in situ Hybridization (FISH)         168

8.8.3.1 The Format of Fish Test Result 169

8.8.3.2 Commonly Used FISH-Based Tests      170

8.8.3.3 Microdeletions/Microduplications Detectable by FISH  171

8.8.3.4 Types of FISH Probes and Their Functions       171

8.8.4    Microarray-Based Comparative Genomic Hybridization (array-CGH)     172

8.9       Advances in Prenatal Screening: The Power to Know Sooner      173

8.9.1    NIPTs: An Overview of Tests and Technologies 174

8.9.1.1 Harmony Test 174

8.9.1.2 InformaSeq     176

8.9.1.3 Panorama Test 176

8.9.1.4 Prena Test       177

8.9.1.5 NIFTY Test     178

8.9.1.6 IONA Test      178

8.9.1.7 Verifi Test       180

8.9.1.8 MaterniT GENOME Test         181

8.9.1.9 MaterniT21 PLUS Test 182

8.9.1.10 HeridiT UNIVERSAL Carrier Screen   183

8.9.2    Comparison of MaterniT21 PLUS, Verifi, Harmony and Panorama Tests 183

8.9.3    U.S. Patents for NIPTs by Company      184

8.9.3.1 Selected Issued Patents of NIPTs          184

8.9.3.2 Assignees of Major U.S. Patents and their Current Licensees     185

8.9.4    Global Availability of NIPTs     186

8.9.5    Cost Effectiveness of NIPTs      187

8.9.6    Clinical Implementation Strategies to be adopted for NIPTs        188

8.9.7    Integration of NIPT into Healthcare System: Patient-Directed Model       189

8.10     Tandem Mass Spectrometry (MS/MS) in Newborn Screening     190

8.11     Fetal Ultrasound in Prenatal Screening   191

8.11.1  Types of Fetal Ultrasound Exams         191

8.11.2  Best Obstetric and Gynecological Ultrasound Systems in the Market      192

8.11.3  Best Premium Fetal Ultrasound Machines         192

8.11.3.1 Philips Epiq 7  192

8.11.3.2 GE Voluson E8           193

8.11.3.3 GE Voluson E10         193

8.11.3.4 Samsung UGEO WS80A         194

8.11.4  High-End Systems       194

8.11.4.1 Philips Epiq 5  195

8.11.4.2 Philips Affinity 70       195

8.11.4.3 GE Voluson E6           195

8.11.4.4 GE Voluson S8 196

8.11.5  Midrange Systems       196

8.11.5.1 Philips Affinity 50       197

8.11.5.2 GE Voluson S6 197

8.11.5.3 Samsung AccuVix A30 197

8.11.5.4 Philips Clear Vue 650  198

8.11.6  Economy Systems       198

8.11.6.1 Philips Clear Vue 550  198

8.11.6.2 GE Logiq P5    199

8.11.6.3 Samsung H60  199

8.11.6.4 Alpinion Ecube 7         199

8.11.7  Portable Systems         200

8.11.7.1 GE Voluson 1 200

8.11.7.2 Samsung UGEO HM70A         200

8.12     Therapeutic Genome Editing: A Breakthrough Technology         201

8.12.1  Genome Editing Technologies  201

8.12.1.1 Growing Popularity of CRISPR Kits     201

8.12.2  Therapeutic Applications of Genome Editing    202

8.12.3  The First Genetically Modified Human Embryos           203

9.0       Prenatal Screening and Diagnostics: Market Overview          204

9.1       Global Market for Fetal Ultrasound       204

9.1.1    Market Leaders in Fetal Ultrasound       206

9.2       Global Market for Prenatal MRI Screening        207

9.3       Global Market for Maternal Serum Screening Tests        208

9.4       Global Market for Noninvasive Prenatal Tests (NIPTs) using cffDNA     210

9.4.1    Global Market for NIPTs by Product     211

9.5       Global Market for Prenatal Diagnostic Invasive Tests     212

9.6         Global Market for Newborn Screening for Genetic Diseases      213

9.6.1    Newborn Screening Market by Technology        214

9.7       Global Market for Preimplantation Screening/Diagnosis (PGS/PGD)       219

10.0     Other Genetic Testing-Related Markets         221

10.1     Emerging Trends in Molecular Diagnostics Market        221

10.2     Emerging Trends in Liquid Biopsy Market         222

10.3     Emerging Trends in Personalized Medicine Diagnostics Market  224

10.4     Emerging Trends in in vitro Diagnostics (IVD) Market   226

11.0     Market SWOT and Strategy Analysis 228

11.1     Acquisition Activities in Prenatal Screening Industry      228

11.1.1  Acquisition of BlueGenome by Illumina           228

11.1.2  Illumina’s Acquisition of Verinata        228

11.1.3  Eurofin’s Joint Venture with Emory Genetics Laboratory           228

11.1.4  Roche’s Acquisition of Ariosa Diagnostics       228

11.1.5  Cooper Surgical’s Acquisition of Reprogenetics 228

11.2     Market Drivers 229

11.3     Market Restraints         229

11.4     Future of Prenatal Screening     229

11.5     Legislation Mandating Newborn Screening by Geography          229

11.5.1  Newborn Screening Programs in Americas        230

11.5.2  Newborn Screening Programs in Asia/Pacific    230

11.5.3  Newborn Screening Programs in Europe           230

11.5.4  Newborn Screening Programs in Middle East and Northern Africa         231

11.6     Ethical Voices against Problamatic Applications of NIPT and NIPD        231

11.7     Clinical Implemention of NIPTs 232

11.7.1  Implementation of NIPTs in Developed Countries         232

11.7.3  Implementation of NIPTs in Developing and Under-Developed Countries          233

11.8     Adoption Rates for Different Prenatal Tests in the U.S.   233

12.0     Company Profiles       234

12.1     23andMe Inc.   234

12.1.1  23andMe’s Agreement with Pfizer        235

12.1.2  23andMe’s Agreement with Genentech 235

12.1.3  FDA’s Approval for 23andMe’s Screening Test for Bloom Syndrome    235

12.2     Abbott Laboratories      235

12.2.1  ARCHITECT AFP Assay         236

12.3     Abbott Molecular Inc.   236

12.3.1  AneuVysion     236

12.3.2  Cystic Fibrosis Genotyping Assay         236

12.4     Abcam plc       237

12.4.1  hCG Human ELISA Kit 237

12.5     AB Sciex LLC  237

12.6     Adaltis S.r.l      238

12.6.1  CLIAgen Free Beta-hCG Kit     238

12.7     Adaptive Biotechnologies Corp. 238

12.7.1  ImmunoSEQ Platform  238

12.7.2  ClonoSEQ        239

12.7.3  Pipeline            239

12.7.3.1 Quantifying Tumor Infiltration Lymphocytes in Solid Tumors   239

12.7.3.2 Measuring Immune Reconstitution Post Transplant       239

12.7.3.3 Diagnosing Cutaneous T-Cell Lymphoma (CTCL)        239

12.7.3.4 Therapeutics    239

12.8     Affymetrix Inc. 240

12.8.1  Microarray Solutions    240

12.8.2  Affymetrix’s Collaborating Partners      241

12.8.3  Affymetrix’s R&D Investment  241

12.9     Agena Biosciences Inc. 242

12.9.1  MassARRAY System   242

12.9.2  Acquisition of Sequenom’s Bioscience Business by Agena Biosciences   242

12.10   Agilent Technologies Inc.         243

12.10.1 SureScan Microarray Scanner  243

12.10.2 OneSeq           243

12.11   Ambry Genetics Corp.  244

12.11.1 Clinical Diagnostic Tests         244

12.12   Analogic Corp. 245

12.12.1 Flex Focus 500 245

12.12.1 SonixTouchQ+ 246

12.12.3 SonixSP Q+     246

12.13   Ariosa Diagnostics Inc. 246

12.13.1 Harmony Test 246

12.13.2 Granting of Licenses to Harmony Test  247

12.14   Ansh Labs        247

12.14.1 picoPAPP-A ELISA Kit           247

12.14.2 Inhibin A ELISA Kit    247

12.15   Appistry Inc.    248

12.15.1 GenomePilot   248

11.15.2 Ayrris for NGS Analysis          248

12.15.3 Variant Annotation and Analysis Suite  248

12.15.4 CloudDx Translational 248

12.15.5 CloudDx Clinical        248

12.15.6 Appistry’s Partnership with LifeMap Sciences  249

12.16   ARUP Laboratories      249

12.16.1 Prenatal Screening and Diagnosis         249

12.16.2 Next-Generation Sequencing (NGS)     249

12.16.3 Noninvasive Prenatal Test for Aneuploids         250

12.17   AssureRx Health Inc.    250

12.17.1 GeneSight Psychotropic           250

12.17.2 GeneSight Analgesic   250

12.17.3 GeneSight ADHD       250

12.17.4 GeneSight MTHFR      251

12.18   Asuragen Inc.   251

12.18.1 AmplideX FMR1 PCR 251

12.18.2 AmplideX FMR1 mPCR          251

12.18.3 AmplideX Controls     251

12.18.4 Quantidex Pan Cancer Kit        251

12.18.5 Quantidex BCR/ABL1 Quant Kit         252

12.18.6 Quantidex DNA Assay 252

12.18.7 Signature Technology  252

12.18.8 Signature KRAS Mutations      252

12.18.9 Signature BRAF Mutations      252

12.18.10           Signature LTx v2.0       252

12.18.11           Signature NPM1 Mutations       253

12.19   Athena Diagnostics Inc. 253

12.20   AutoGenomics Inc.       253

12.20.1 INFINITI System        254

12.21   Base4 Innovation Ltd.   254

12.21.1 Microdroplet Sequencing         254

12.22   Beckman Coulter Inc.   254

12.22.1 SPRIworks System I for Illumina Genome Analyzer      255

12.22.2 SPRIworks HT for Illumina NGS Platform       255

12.22.3 SPRIselect Reagent Kit 255

12.22.4 Automated Sample Preparation 255

12.22.5 Genomic Services        255

12.22.6 Access Total Beta-hCG Reagent           255

12.22.7 Access Inhibin A Assay           255

12.23   Berry Genomics Co., Ltd.         256

12.23.1 Bambni Test    256

12.23.2 Berry’s Partnership with Illumina         256

12.24   Bina Technologies Inc. 256

12.24.1 Bina RAVE     257

12.24.2 Bina AAiM     257

12.24.3 Bina’s Collaboration with AsraZeneca  257

12.25   Bio-Rad (Israel) Laboratories Inc.         257

12.26   BGI      258

12.27   Blueprint Genetics Oy  259

12.27.1 Services          259

12.28   Boreal Genomics Inc.   259

12.28.1 OnTarget Mutation Detection System   259

12.28.2 Aurora Platform          260

12.29   Cambridge Epigenetix Ltd.       260

12.29.1 TrueMethyl Seq Kit     260

12.29.2 TrueMethyl Array       260

12.30   Caris Lifesciences        261

12.30.1 ADAPT Biotargeting System   261

12.30.2 Caris Molecular Intelligence    261

12.30.3 Collaboration between Caris Lifesciences and Syapse    261

12.31   CeGaT GmbH  262

12.31.1 NGS Service   262

12.31.2 ADME Research Panel 262

12.31.3 Forschungsexom         262

12.32   Centogene AG 263

12.33   Chromsystems Instruments & Chemicals GmbH 263

12.34   Chronix Biomedical Inc.           264

12.34.1 Technology     264

12.35   Claritas Genomics Inc.  264

12.36   CLC bio A/S     267

12.36.1 Products          267

12.37   Combimatrix Corp.       268

12.37.1 CombiSNP Array for Prenatal Diagnosis           268

12.37.2 CombiPGS      268

12.38   Contec Medical Systems Co., Ltd.         274

12.38.1 CMS600P B-Ultrasound Diagnostic System      274

12.38.2 CMS600B3 B-Ultrasound Diagnostic System    274

12.39   Coriell Life Sciences Inc.          274

12.39.1 GeneDose       274

12.40   Correlagen Diagnostics Inc.      275

12.41   Counsyl Inc.     277

12.41.1 Family Prep Screen      277

12.41.2 Informed Pregnancy Screen      277

12.41.3 Inherited Cancer Screen           277

12.42   Courtagen Life Sciences Inc.     278

12.43   Creative Diagnostics     278

12.43.1 Alpha-Fetoprotein, AFP ELISA Kit      278

12.43.2 hCG ELISA Kit           279

12.43.3 Human Free Estriol ELISA Kit 279

12.44   Cynvenio Biosystems Inc.         279

12.44.1 LiquidBiopsy  279

12.44.2 ClearID           279

12.44.3 Thermo Fisher’s Distribution Agreement with Crynvenio          280

12.44.4 Cynvenio’s Collaboration with the University of Southern Denmark       280

12.45   Diagnostic Automation/Cortez Diagnostics Inc. 280

12.46   Demeditec Diagnostics GmbH  281

12.46.1 Estriol, Free/Uncojugated ELISA         281

12.47   DRG International Inc. 281

12.47.1 DRG PAPP-A ELISA  281

12.48   DNA Electronics Ltd.   282

12.48.1 Genalysis        282

12.49   DNA Link Inc. 282

12.49.1 Services          282

12.49.2 Partnership between Affymetrix and DNA Link Inc.      283

12.49.3 DNAGPS        283

12.49.4 AccuID           283

12.50   DNAnexus Inc. 284

12.50.1 Adoption of DNAnexus’ Cloud Genomics Platform by Natera   284

12.51   Eagle Biosciences Inc.  284

12.51.1 Alport Syndrome Kit   285

12.51.2 Free Beta-hCG ELISA 285

12.52   Eagle Genomics Ltd.    285

12.52.1 EagleCore       285

12.52.2 EagleNsembl   285

12.53   Enzymatics Inc. 286

12.53.1 Reagents         286

12.53.2 SPARK DNA Sample Preparation Kit   286

12.54   Esoate SpA      286

12.54.1 MyLabGamma 287

12.54.2 MyLab GOLD Platform           287

12.54.3 MyLab 50       287

12.54.4 MyLab 40       287

12.54.5 MyLab 25Gold 287

12.55   Eurofins MWG Operon Inc.      287

12.55.1 Products and Services  288

12.56   Exiqon A/S      289

12.56.1 Products and Services  289

12.57   Fakuda Denshi Co., Ltd.           290

12.57.1 UF-400AX      290

12.57.2 UF-550XTD    290

12.57.3 UF-760AG      291

12.57.4 UF-870AG      291

12.58   GATC Biotech AG       292

12.58.1 Sanger Sequencing      292

12.59   GE Healthcare Ltd.       292

12.59.1 VScan 293

12.59.2 VScan with Dual Probe 293

12.59.3 Logiq P5         293

12.59.4 Logiq P6         293

12.59.5 GE Venue 50  293

12.59.6 GE Venue 40  293

12.59.7 Logiq S8         293

12.59.8 Logiq E9         294

12.60   GenapSys Inc.  294

12.60.1 GENIUS         294

12.61   Gene by Gene Ltd.       294

12.62   Genection Inc.  295

12.63   GeneDx Inc.     296

12.63.1 Cytogenetics and Biochemical Tests     296

12.63.2 Deletion/Duplication Analysis  296

12.63.3 Carrier Mutation-Specific Testing         297

12.64   GenePeeks Inc. 297

12.64.1 Matchright Technology 297

12.65   Genesis Genetics          298

12.65.1 GeniSeq24      298

12.65.2 UltraPGD        298

12.65.3 ArrayCGH      298

12.66   Genetadi Biotech S.L.   299

12.66.1 AMNIOCHIP  299

12.66.2 FERTICHIP    299

12.66.3 PRENATAL GENE     299

12.67   Genoma Group Srl        300

12.68   Genomed AG   300

12.68.1 Aneufast         300

12.69   GenPath Diagnostics    301

12.69.1 InheriGen, InheriGen Plus and InheriGen Tx     301

12.69.2 Prenatal Tests  301

12.70   Genway Biotech Inc.    301

12.71   Good Start Genetics Inc.           302

12.71.1 EmbryVu        302

12.72   Hitachi Medical Systems America Inc.  302

12.72.1 Arietta 70        302

12.72.2 ProSound Alpha 7       302

12.72.3 Noblus 303

12.72.4 ProSound F37 303

12.73   Hologic Inc.     303

12.73.1 InPlex CF Molecular Test        303

12.73.2 Rapid fFN Test 303

12.74   Illumina Inc.    304

12.74.1 The Verifi Prenatal Test           304

12.75   INEX Innovations Exchange Pte Ltd.     305

12.75.1 iGene  306

12.75.2 FlashFISH       306

12.75.3 INEX’s Collaborative Agreement with BGI      306

12.76   Invitae Corp.    306

12.77   Laboratory Corporation of America Inc. 307

12.77.1 Services          307

12.78   LifeCodexx AG 308

12.78.1 Prena Test       308

12.79   Monobind Inc.  308

12.79.1 Fertility VAST Panel: HCG, FSH, LH, SPRL    308

12.79.2 PAPP-A Test   309

12.80   Multiplicom NV           309

12.80.1 Clarigo 309

12.81   Myriad Genetics           309

12.82   Natera Inc.       310

12.82.1 Panorama Prenatal Screen        310

12.82.1.1          Accuracy of Panorama Test       310

12.82.1.2          Minimal False Negatives in Panorama   311

12.82.2 Horizon Carrier Screening        311

12.82.3 Spectrum Preimplantation Test 312

12.82.4 Natera’s 24-chromosome PGS  313

12.82.5 Anora Miscarriage Test 313

12.82.6 Prenatal Paternity Test 313

12.82.7 Agreement between Natera and LifeLabs          313

12.83   Natus Medical Inc.       314

12.83.1 ABaer 314

12.83.2 Algo 5 314

12.83.3 Algo 3i            314

12.83.4 AuDX 315

12.83.5 Echo-Screen III           315

12.84   NewGene Ltd.  315

12.84.1 Hereditary Disorders    316

12.84.2 Alport Syndrome         316

12.84.3 Aortopathy Panel         316

12.84.4 RASopathy Gene Panel 316

12.84.5 Familial Hypercholesterolaemia           317

12.85   NIPD Genetics Ltd.      317

12.85.1 VERACITY Test (NIPT)         317

12.86   Oxford Gene Technology (OGT)           318

12.86.1 SureSeq NGS Library Preparation Kit   318

12.86.2 CytoSure Embryo Screen Array 318

12.86.3 Cytocell FISH Probes  318

12.86.4 CytoSure Embryo Screen Array 318

12.86.5 CytoSure Aneuploidy Array     318

12.86.6 CytoSure Chromosome X Arrays         319

12.87   Parabase Genomics Inc. 319

12.87.1 NewbornDx Test         319

12.88   Pathway Genomics Corp.          320

12.88.1 Carrier Screening         320

12.89   PerkinElmer Life and Analytical Sciences Inc.   320

12.89.1 DELFIA Xpress PIGF Assay    320

12.89.2 DELFIA Xpress PAPP-A Kit   320

12.89.3 AutoDELFIA PAPP-A Kit       321

12.89.4 StepOne Newborn Screens       321

12.90   Premaitha Health PLC  321

12.90.1 IONA Test      321

12.90.2 Premaitha’s Investment Agreement with Thermo Fisher 322

12.91   Progenity Inc.   322

12.91.1 nxtPanel Test  322

12.91.2 Verifi Test       322

12.91.3 Acquisition of Carmenta Bioscience by Progenity         323

12.92   Qiagen N.V.     323

12.92.1 Next-Generation Sequencing (NGS)     323

12.92.2 Target Enrichment Solutions    324

12.92.3 Library Construction    324

12.93   Quest Diagnostics Inc.  324

12.93.1 QNatal Advanced        324

12.93.2 Inhibin A        325

12.94   Ravgen Inc.      325

12.94.1 Prenatal Downs Syndrome Testing       325

12.94.2 Single Gene Disorder Testing   325

12.95   Recombine Inc. 325

12.95.1 CarrierMap     326

12.96   Reproductive Genetics Institute Inc.      326

12.97   Reprogenetics Laboratories       326

12.97.1 Array CGH (aCGH)     326

12.97.2 Single Gene Disorder Testing   326

12.97.3 WaferGen Biosystems’ Supply Agreement with Reprogenetics  327

12.98   Sebia Inc.         327

12.99   Sequenom Inc. 327

12.99.1 MaterniT GENOME Test         328

12.99.1.1          Sensitivity and Specificity of MaterniT GENOME Test  328

12.99.2 MaterniT21 PLUS       329

12.99.2.1          Sensitivity and Specificity of MaterniT21 PLUS 329

12.99.3 HerediT UNIVERSAL Carrier Screen  330

12.99.4 VisibiliT Prenatal Test 330

12.99.5 HerediT Cystic Fibrosis Carrier Screen 330

12.99.5.1          Clinical Data for HerediT          331

12.99.6 SensiGene Fetal RHD Genotyping        331

12.99.7 NextView Prenatal Diagnostic Tests     331

12.100 SeraCare Life Sciences Inc.       332

12.100.1           Seraseq Trisomy 21 Aneuploidy Reference Material       332

12.101 Siemens Healthcare      333

12.101.1           Acuson S2000  333

12.101.2           Acuson X700   333

11.101.3           Acuson X600   333

12.101.4           Acuson X300 PE          333

12.101.5           Acuson X150   334

12.101.6           Acuson Antares 334

12.101.7           Acuson P300    334

12.102 Sophia Genetics SA      334

12.102.1           Clinical Genomic Modules        334

12.103 SpOtOn Clinical Diagnostics Ltd.          335

12.103.1           Newborn Screening      335

12.103.2           Ante-Natal Testing       335

12.104 Stra Biotech GmbH      335

12.105 Sygnis AG        336

12.105.1           TruePrime Single Cell WGA Kit           336

12.105.2           TruePrime WGA Kit     336

12.105.3           TruePrime RCA Kit      336

12.105.4           SunScript Reverse Transcriptase RNaseH+ and RNaseH- Kits    336

12.105.5           SensiPhi/QualiPhi         336

12.106 SynapDx Corporation   337

12.106.1           ASD Diagnosis 337

12.107.1           Thermo Fisher’s Brands 337

12.108 Transgenomic Inc.        338

12.108.1           Technology Suite         338

12.108.2           MX-ICP Technology    338

12.108.3           ICEme Kit        339

12.108.4           Other Products 339

12.109 Trivitron Healthcare Private Ltd.           339

12.110 Trovagene Inc. 340

12.110.1           PCM BRAF V600E Mutation Detection Test     340

12.110.2           PCM KRAS Mutation Detection Test    340

12.110.3           PCR EGFR Mutation Detection Test     340

12.110.4           HPV HR Detection Test 341

12.111 Tute Genomics Inc.      341

12.111.1           Tute Platform   342

12.112 Warp Drive Bio LLC    342

12.112.1           Wrap’s New Approach 342

12.112.2           Chemomemes  342

12.112.3           Genomic Search Engine 342

12.113 ZS Genetics Inc.           343

12.113.1           3G Sequencing 343

12.114 Zymo Research Corporation      343

12.114.1           DNA Methylation Products       343

12.114.1.1        Bisulfite Conversion     343

12.114.1.2        Methylated DNA Standards      344

12.114.1.3        DNA Methyltransferases           344

12.114.1.4        5-mC ELISA    344

12.114.1.5        5-mC Antibodies and Immunoprecipitation        344

11.114.1.6        Region-Specific DNA Methylation Analysis      344

12.114.1.7        Global 5-mC Quantification      344

12.114.1.8        Genome-wide 5-mC Analysis    345

12.114.2           DNA Purification Products       345

12.114.2.1        DNA Clean-up 345

12.114.2.2        Plasmid DNA Purification        345

12.114.2.3        Genomic DNA 345

12.114.2.4        Microbial and Environmental DNA Isolation     346

12.114.2.5        DNA/RNA Co-Purification       346

12.114.2.6        Sample Collection and Stabilization       346

12.114.2.7        DNA Ladders   346

12.114.2.8        Enzymes          346

12.114.2.9        High-Throughput/Automated Isolation  347

12.114.2.10      DNA Analysis Kits       347

12.114.3           Other Products 347

 

APPENDIX

 

Appendix 1: Representative Companies in Prenatal and Maternal Diagnostics and their Products  348

Appendix 2: Sources for Tables and Graphs       351

 

 

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