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Chapter 2 provides an executive summary of the insights captured in our research. It offers a high level view on the current state of the NIPT and the newborn screening market and its likely evolution over the next decade.
Chapter 3 provides a general introduction of various types of chromosomal abnormalities and genetic disorders occurring in fetuses and newborns with information on their statistics, and the different types of genetic tests available for their detection. It outlines the concept of invasive and non-invasive prenatal testing. In addition, the chapter offers a discussion on the historical evolution of newborn screening.
Chapter 4 provides a holistic view of the NIPT and newborn screening market. It provides a comprehensive list of NIPT and newborn screening tests. The chapter includes a detailed analysis of the NIPTs based on the development stage, technology platforms, type of indications tested, stage of pregnancy and result turnaround time. In addition, it includes a detailed analysis of the newborn screening tests based on the screening type, technology platform, type of indication, period of sample collection after birth and result turnaround time. The chapter also lists the basic prenatal testing and newborn screening tests, devices, systems and technology platforms.
Chapter 5 is a compilation of key insights gained from this study. It includes a geographical coverage analysis that highlights the availability of each NIPT test in different regions across the globe, and a heat map representing the relative clinical performance of the commercially available NIPTs on the basis of sensitivity, specificity, result turnaround time and the stage of pregnancy when the test can be performed. In addition, it presents a Harvey ball analysis depicting the test panel strength on the basis of number of indications screened, and a world map to represent the geographical presence and the activity of companies involved in the field of NIPT. The chapter also includes a grid representation of the newborn screening tests, highlighting the distribution of these tests on the basis of screening type (basic newborn screening, expanded newborn screening, comprehensive newborn screening and advanced newborn screening) and the technology platforms used to design them. Additionally, it features a developer landscape of the companies involved in the field of newborn screening, distributed on the basis of the company size and geographical presence.
Chapter 6 offers a comprehensive discussion on NIPT tests, highlighting advantages and challenges associated with the development and use of these tests. The chapter features detailed company profiles of the leading players that are involved in the development of NIPT tests. Each profile includes a brief overview of the company, its financial information, funding details, product portfolio and an informed future outlook. It also includes detailed profiles of the products of these key players. Each product profile provides information on the development history, specifications, technology platform, procedure, advantages and clinical information of different products offered by the company. In addition, the chapter includes a development timeline marking the launch of the popular NIPT tests between 2011 and 2016. It also provides a commercial landscape of the most popular NIPTs on the basis of different characteristics of these tests.
Chapter 7 offers a comprehensive discussion on newborn screening. It talks about different types of next-generation newborn screening procedures. We have provided company profiles and product profiles of the key players engaged in the development of newborn screening tests. In addition, it includes brief profiles of other players involved in this field. The section also includes an elaborate discussion on the current spread of newborn screening programs established in various countries across the globe to provide proper medical care to newborns.
Chapter 8 provides details on the other diagnostic tests / services available for genetic testing in newborns and fetuses; these include carrier testing / preconception care, preimplantation genetic testing (PGT) (preimplantation genetic diagnosis / screening (PGD / PGS)), genetic counselling and direct to consumer (DTC) genetic testing services. We have provided a brief overview of these tests / services, highlighting their general procedure / workflow, indications being evaluated and their indicative development pipeline.
Chapter 9 features an elaborate discussion on the collaborations and partnerships that have been inked amongst players in both NIPT and newborn screening markets. We have also discussed the various partnership models that have been implemented, highlighting the most common forms of deals / agreements in this domain.
Chapter 10 highlights the market forecast and sizing of the overall NIPT and newborn screening markets. This chapter discusses, in detail, the parameters that are likely to influence the evolution of these markets. It features detailed insights on the likely evolution of the NIPT market for different patient risk group segments (high risk, average risk and low risk). The chapter highlights the likely distribution of the market across North America (US, Canada and Mexico), Europe (France, Germany, Italy, Spain, the UK and rest of Europe), Asia (Japan, China and India) and rest of the world. It also presents a detailed market segmentation by the key indications, stage of pregnancy when the tests can be performed and share of individual NIPT tests. In addition, the chapter offers a high-level view on the upcoming newborn screening market across the globe.
Chapter 11 summarizes the overall report and provides a recap of the key takeaways from the study. It also presents our independent opinion on the future of both NIPT and newborn screening market based on the research and analysis described in the previous chapters.
Chapter 12 is a collection of interview transcripts of the discussions held with key stakeholders in these fields.We have presented the insights provided to us by Jim Patterson (Vice President, Sales and Marketing North America, EvolveGene®),Osama Fikry (Metabolic and Diagnostic Head, NewBridge Pharmaceuticals) and Silke Arndt (Medical Scientist and NGS Manager, Inqaba Biotec).
Chapter 13 illustrates a detailed analysis on the survey conducted for gaining a deeper understanding on the nature of products and services offered by the companies involved in NIPT and / or newborn screening fields.
Chapter 14 is an appendix, which provides tabulated data and numbers for all the figures provided in the report.
Chapter 15 is an appendix, which provides the list of companies and organizations mentioned in the report.
1. PREFACE
1.1. Scope of the Report
1.2. Research Methodology
1.3. Chapter Outlines
2. EXECUTIVE SUMMARY
3. INTRODUCTION
3.1. Chapter Overview
3.2. Importance of Disease Detection: Screening Versus Diagnosis
3.3. Genetic Abnormalities: An Introduction
3.3.1. Classification of Genetic Disorders
3.3.1.1. Chromosomal Abnormalities
3.3.1.2. Single Gene Disorders
3.3.1.3. Teratogenic Problems
3.3.1.4. Complex / Multifactorial Problems
3.3.2. Statistics and Epidemiology of Genetic Disorders
3.3.3. Common Genetic Disorders: Causes and Symptoms
3.4. Genetic Tests: Importance in Prenatal and Neonatal Care
3.5. Prenatal Genetic Testing: A Detailed Overview
3.5.1. Conventional Methods of Prenatal Testing
3.5.1.1. Maternal Serum Screening
3.5.1.2. Ultrasonography
3.5.1.3. Invasive Confirmatory Tests
3.5.1.3.1. Amniocentesis
3.5.1.3.2. Chorionic Villus Sampling (CVS)
3.5.1.4. Fetal Cells in Maternal Blood (FCMB)
3.5.2. Non-Invasive Prenatal Testing (NIPT)
3.6. The Concept of Newborn Screening
3.6.1. Evolution of Newborn Screening
3.7. Ethical Issues Related to Prenatal Testing and Newborn Screening
4. NIPT AND NEWBORN SCREENING: MARKET LANDSCAPE
4.1. Chapter Overview
4.2. NIPT: Development Landscape
4.2.1. NIPT: Distribution by Stage of Development
4.2.2. NIPT: Distribution by Technology Platforms
4.2.3. NIPT: Distribution by Type of Indication
4.2.4. NIPT: Distribution by Stage of Pregnancy
4.2.5. NIPT: Distribution by Result Turnaround Time
4.3. NIPT: Technology Platforms
4.4. Prenatal Testing: Other Initiatives
4.5. Newborn Screening: Development Landscape
4.5.1. Newborn Screening: Distribution by Screening Type
4.5.2. Newborn Screening: Distribution by Technology Platforms
4.5.3. Newborn Screening: Distribution by Type of Indication
4.5.4. Newborn Screening: Distribution by Period of Sample Collection After Birth
4.5.5. Newborn Screening: Distribution by Result Turnaround Time
4.6. Newborn Screening: Other Initiatives
5. NIPT AND NEWBORN SCREENING: KEY INSIGHTS
5.1. Chapter Overview
5.2. NIPTs: Distribution by Geographical Coverage
5.3. Commercialized NIPTs: A Competitive Heat Map Analysis for Clinical Efficiency
5.4. NIPTs: Harvey Ball Analysis for Test Panel Strength
5.5. NIPTs: Geographical Distribution of Industry Players
5.6. Newborn Screening Grid Analysis: Distribution by Screening Type and Technology Platforms
5.7. Newborn Screening Developer Landscape: Distribution by Company Size and Geography
6. PRENATAL TESTING: FOCUS ON NIPT
6.1. Chapter Overview
6.2. Emergence of NIPT
6.3. NIPT Key Players: Company Profiles
6.3.1. Ariosa Diagnostics (Acquired by Roche)
6.3.1.1. Company Introduction
6.3.1.2. Financial Information
6.3.1.3. Product Portfolio
6.3.1.3.1. Harmony Test
6.3.1.3.1.1. Product Overview and Development History
6.3.1.3.1.2. Product Specifications
6.3.1.3.1.3. Technology Overview
6.3.1.3.1.4. Procedure and Interpretation of Results
6.3.1.3.1.5. Advantages
6.3.1.3.1.6. Clinical Information
6.3.1.4. Future Outlook
6.3.2. BGI
6.3.2.1. Company Introduction
6.3.2.2. Financial Information
6.3.2.3. Product Portfolio
6.3.2.3.1. NIFTY Test
6.3.2.3.1.1. Product Overview and Development History
6.3.2.3.1.2. Product Specifications
6.3.2.3.1.3. Technology Overview
6.3.2.3.1.4. Procedure and Interpretation of Results
6.3.2.3.1.5. Advantages
6.3.2.3.1.6. Clinical Information
6.3.2.4. Future Outlook
6.3.3. Natera
6.3.3.1. Company Introduction
6.3.3.2. Financial Information
6.3.3.3. Product Portfolio
6.3.3.3.1. Panorama Test
6.3.3.3.1.1. Product Overview and Development History
6.3.3.3.1.2. Product Specifications
6.3.3.3.1.3. Technology Overview
6.3.3.3.1.4. Procedure and Interpretation of Results
6.3.3.3.1.5. Advantages
6.3.3.3.1.6. Clinical Information
6.3.3.4. Future Outlook
6.3.4. SequenomTM (Acquired by LabCorp)
6.3.4.1. Company Introduction
6.3.4.2. Financial Information
6.3.4.3. Product Portfolio
6.3.4.3.1. MaterniT GENOME
6.3.4.3.1.1. Product Overview and Development History
6.3.4.3.1.2. Product Specifications
6.3.4.3.1.3. Procedure and Interpretation of Results
6.3.4.3.1.4. Advantages
6.3.4.3.1.5. Clinical Information
6.3.4.3.2. VisibiliTTM Test
6.3.4.3.2.1. Product Overview and Development History
6.3.4.3.2.2. Product Specifications
6.3.4.3.2.3. Procedure and Interpretation of Results
6.3.4.3.2.4. Advantages
6.3.4.3.2.5. Clinical Information
6.3.4.3.3. MaterniT21 PLUS Test
6.3.4.3.3.1. Product Overview and Development History
6.3.4.3.3.2. Product Specifications
6.3.4.3.3.3. Technology Overview
6.3.4.3.3.4. Procedure and Interpretation of Results
6.3.4.3.3.5. Advantages
6.3.4.3.3.6. Clinical Information
6.3.4.3.4. SensiGene RhD Test
6.3.4.3.4.1. Product Overview and Development History
6.3.4.3.4.2. Product Specifications
6.3.4.3.4.3. Technology Overview
6.3.4.3.4.4. Procedure and Interpretation of Results
6.3.4.3.4.5. Advantages
6.3.4.3.4.6. Clinical Information
6.3.4.3.5. NextViewTM Array Diagnostic Test Platform
6.3.4.3.5.1. Product Overview and Development History
6.3.4.3.5.2. Product Specifications
6.3.4.4. Future Outlook
6.3.5. Verinata Health (Acquired by Illumina)
6.3.5.1. Company Introduction
6.3.5.2. Financial Information
6.3.5.3. Product Portfolio
6.3.5.3.1. Verifi Prenatal Test / InformaSeqSM
6.3.5.3.1.1. Product Overview and Development History
6.3.5.3.1.2. Product Specifications
6.3.5.3.1.3. Technology Overview
6.3.5.3.1.4. Procedure and Interpretation of Results
6.3.5.3.1.5. Advantages
6.3.5.3.1.6. Clinical Information
6.3.5.4. Future Outlook
6.4. Popular NIPTs: A Detailed Comparison
6.5. NIPT: Regulatory Landscape
6.6. NIPT: Future Outlook
7. NEWBORN SCREENING: DETAILED OUTLOOK
7.1. Chapter Overview
7.2. Newborn Screening: Introduction and Classification
7.2.1. Classification of Newborn Screening Tests: By Sample Type
7.2.2. Classification of Newborn Screening Tests: By Period of Sample Collection After Birth
7.2.3. Classification of Newborn Screening: By Patient Risk Group
7.3. Technological Advances in Newborn Screening
7.4. Newborn Screening Key Players: Company Profiles
7.4.1. BGI
7.4.1.1. Company Introduction
7.4.1.2. Financial Information
7.4.1.3. Product Portfolio
7.4.1.3.1. NOVATM Newborn Genetic Test
7.4.1.3.1.1. Product Overview
7.4.1.3.1.2. Product Specifications and Test Methodology
7.4.1.3.2. NOVATM Metabolic Disease Screening
7.4.1.3.2.1. Product Overview
7.4.1.3.2.2. Product Specifications and Test Methodology
7.4.1.4. Future Outlook
7.4.2. Cordlife Group
7.4.2.1. Company Introduction
7.4.2.2. Financial Information
7.4.2.3. Product Portfolio
7.4.2.3.1. MetaScreenTM
7.4.2.3.1.1. Product Overview
7.4.2.3.1.2. Product Specifications and Test Methodology
7.4.2.4. Future Outlook
7.4.3. Genomi-k
7.4.3.1. Company Introduction
7.4.3.2. Product Portfolio
7.4.3.2.1. Audi-k Service
7.4.3.2.1.1. Product Overview
7.4.3.2.1.2. Product Specifications and Test Methodology
7.4.3.2.2. Cardi-k Service
7.4.3.2.2.1. Product Overview
7.4.3.2.2.2. Product Specifications and Test Methodology
7.4.3.2.3. Tami-k Service
7.4.3.2.3.1. Product Overview
7.4.3.2.3.2. Product Specifications and Test Methodology
7.4.4. Genetadi Biotech
7.4.4.1. Company Introduction
7.4.4.2. Product Portfolio
7.4.4.2.1. Neonatal-One Plus
7.4.4.2.1.1. Product Overview
7.4.4.2.1.2. Product Specifications and Test Methodology
7.4.4.3. Future Outlook
7.4.5. NextlineTM Diagnostics
7.4.5.1. Company Introduction
7.4.5.2. Product Portfolio
7.4.5.2.1. BIRTHRIGHT
7.4.5.2.1.1. Product Overview
7.4.5.2.1.2. Product Specifications and Test Methodology
7.4.5.3. Future Outlook
7.4.6. Parabase Genomics
7.4.6.1. Company Introduction
7.4.6.2. Financial Information
7.4.6.3. Product Portfolio
7.4.6.3.1. NewbornDxTM Test
7.4.6.3.1.1. Product Overview
7.4.6.3.1.2. Product Specifications and Test Methodology
7.4.6.3.2. NewbornDxTM HL
7.4.6.3.2.1. Product Overview
7.4.6.3.2.2. Product Specifications and Test Methodology
7.4.6.4. Future Outlook
7.4.7. PerkinElmer Genetics
7.4.7.1. Company Introduction
7.4.7.2. Financial Information
7.4.7.3. Product Portfolio
7.4.7.3.1. StepOne Newborn Screening Panel
7.4.7.3.1.1. Product Overview
7.4.7.3.1.2. Product Specifications and Test Methodology
7.4.7.4. Future Outlook
7.4.8. SouthGenetics
7.4.8.1. Company Introduction
7.4.8.2. Product Portfolio
7.4.8.2.1. BabyGenesTM
7.4.8.2.1.1. Product Overview
7.4.8.2.1.2. Product Specifications and Test Methodology
7.4.8.3. Future Outlook
7.4.9. Other Prominent Players
7.4.9.1. AB SCIEX
7.4.9.2. Aegis Sciences
7.4.9.3. ARCHIMEDlife
7.4.9.4. Baby Genes
7.4.9.5. CENTOGENE
7.4.9.6. EGL Genetic Diagnostics
7.4.9.7. GeneTech
7.4.9.8. iLife Discoveries
7.4.9.9. Macrogen
7.4.9.10. MapmygenomeTM
7.4.9.11. Navigene Genetic Science
7.4.9.12. NeoGen Labs
7.4.9.13. Next Biosciences
7.4.9.14. NIMGenetics
7.4.9.15. Pediatrix Medical Group
7.4.9.16. PreventiNe Life Care
7.4.9.17. Synapse Diagnostics
7.4.9.18. Trivitron Healthcare
7.5. Newborn Screening Programs: Government Initiatives
7.5.1. Asia Pacific
7.5.2. Europe
7.5.3. Latin America
7.5.4. Middle East and North Africa (MENA)
7.5.5. North America
7.6. Newborn Screening: Future Outlook
8. OTHER ASSOCIATED TESTS AND SERVICES
8.1. Chapter Overview
8.2. Carrier Testing / Preconception Care
8.2.1. Carrier Testing / Preconception Care: An Overview
8.2.2. Carrier Testing / Preconception Care: Commercialized Tests
8.3. Preimplantation Genetic Diagnosis / Screening (PGD / PGS)
8.3.1. PGD / PGS: An Overview
8.3.2. PGD / PGS: Commercialized Tests
8.4. Genetic Counseling and Direct to Customer (DTC) Genetic Testing Services
9. RECENT COLLABORATIONS
9.1. Chapter Overview
9.2. Partnership Models
9.3. NIPT: Recent Collaborations
9.3.1. Recent Collaborations: Distribution by Year
9.3.2. Recent Collaborations: Distribution by Type of Model
9.3.3. Recent Collaborations: Most Active Companies
9.4. Newborn Screening: Recent Collaborations
9.4.1. Recent Collaborations: Distribution by Year
9.4.2. Recent Collaborations: Distribution by Type of Model
9.4.3. Recent Collaborations: Most Active Companies
10. NIPT AND NEWBORN SCREENING: MARKET SIZING AND FORECAST
10.1. Chapter Overview
10.2. NIPT: Scope and Forecast Methodology
10.3. NIPT: Forecast Assumptions
10.3.1. Patient Population
10.3.2. Price of Test
10.3.3. Adoption / Penetration Rate
10.4. NIPT: Forecast Projections, 2017-2027
10.4.1. NIPT Market, 2017-2027
10.4.2. NIPT Market: Distribution by Patient Risk Group
10.4.3. NIPT Market: Distribution by Geography
10.4.3.1. NIPT Market in North America
10.4.3.2. NIPT Market in Europe
10.4.3.3. NIPT Market in Asia
10.4.3.4. NIPT Market in Rest of the World
10.4.4. NIPT Market: Distribution by Indication
10.4.5. NIPT Market: Distribution by Stage of Pregnancy
10.4.6. NIPT Market: Distribution by Share of Individual NIPTs
10.5. Newborn Screening: Opportunity Analysis
11. CONCLUSION
11.1. Prenatal Testing and Newborn Screening Have Emerged as Popular Diagnostic Tools for Identification of Genetic Abnormalities in Fetuses and Newborns
11.2. Continuous Innovation has Led to the Development of NIPTs and Advanced Newborn Screening Tests
11.3. These Novel Screening Methods Cater to a Wide Spectrum of Disease Indications
11.4. The Interest has Steadily Risen with the Presence of Multiple Start-ups Across Different Geographies
11.5. The Growing Number of Partnerships are Indicative of a Lucrative Future Potential
11.6. Despite the Ethical Challenges in Developing Countries, the NIPT Market is Likely to Prosper Significantly in the Long Term
11.7. While the Newborn Screening Market is Still Evolving with Advanced Techniques, the NIPT Diagnostic Market is Already Witnessing an Accelerated Growth
12. INTERVIEW TRANSCRIPTS
12.1. Chapter Overview
12.2. Jim Patterson, Vice President, Sales and Marketing North America, EvolveGene
12.3. Osama Fikry, Metabolic and Diagnostic Head, NewBridge Pharmaceuticals
12.4. Silke Arndt, Medical Scientist and NGS Manager, Inqaba Biotec
13. SURVEY ANALYSIS
13.1. Chapter Overview
13.2. Seniority Level of Respondents
13.3. Focus Area of the Company
13.4. Type of Lead Product(s)
13.5. Purpose of Lead Product(s)
13.6. Commercial Availability of Lead Product(s)
13.7. Likely Market Size
14. APPENDIX 1: TABULATED DATA
15. AP PENDIX 2: LIST OF COMPANIES AND ORGANIZATIONS
Figure 3.1 Genetic Disorders: Categories
Figure 3.2 Chromosomal Abnormalities: Numerical and Structural Disorders
Figure 3.3 Genetic Disorders in Fetuses
Figure 3.4 Genetic Disorders in Newborns
Figure 3.5 Chromosomal Abnormalities: Distribution by Type
Figure 3.6 Common Causes of Deaths in Newborns
Figure 3.7 Genetic Tests in Prenatal and Neonatal Care
Figure 3.8 Genetic Testing: Benefits and Drawbacks
Figure 3.9 Reasons for Prenatal Testing
Figure 3.10 Evolution of Prenatal Testing
Figure 3.11 Conventional Prenatal Tests in Different Stages of Pregnancy
Figure 3.12 Maternal Serum Screening Tests: Available Options
Figure 3.13 Reasons to Perform Ultrasound at Various Stages in Pregnancy
Figure 3.14 Amniocentesis: General Procedure
Figure 3.15 Newborn Screening: Components
Figure 3.16 Newborn Screening: Key Milestones
Figure 4.1 NIPT: Distribution by Stage of Development
Figure 4.2 NIPT: Distribution by Technology Platforms
Figure 4.3 NIPT: Distribution by Type of Indication
Figure 4.4 NIPT: Distribution by Chromosomal Abnormalities
Figure 4.5 NIPT: Distribution by Sex Chromosomal Abnormalities
Figure 4.6 NIPT: Distribution by Microdeletion Syndromes
Figure 4.7 NIPT: Distribution by Stage of Pregnancy
Figure 4.8 NIPT: Distribution by Result Turnaround Time
Figure 4.9 Newborn Screening: Distribution by Screening Type
Figure 4.10 Newborn Screening: Distribution by Technology Platforms
Figure 4.11 Newborn Screening: Distribution by Type of Indication
Figure 4.12 Newborn Screening: Distribution by Period of Sample Collection After Birth
Figure 4.13 Newborn Screening: Distribution by Result Turnaround Time
Figure 5.1 NIPTs: Categorization by Heat Map Analysis
Figure 5.2 NIPTs: Geographical Distribution of Industry Players
Figure 5.3 Newborn Screening Grid Analysis: Distribution by Screening Type and Technology Platforms
Figure 5.4 Newborn Screening Developer Landscape: Distribution by Company Size and Geography
Figure 6.1 NIPTs: Key Objectives
Figure 6.2 NIPT Tests: Launch Timeline
Figure 6.3 Harmony® Test: Steps of Operation
Figure 6.4 BGI: Product Portfolio
Figure 6.5 NIFTY® Test: Key Milestones
Figure 6.6 NIFTY® Test: Eligible Patient Population
Figure 6.7 NIFTY® Test: Steps of Operation
Figure 6.8 Natera®: Annual Revenues, 2013-Q1 2017 (USD Million)
Figure 6.9 Natera®: Product Portfolio
Figure 6.10 Panorama® Test: Eligible Patient Population
Figure 6.11 Panorama® Test: Steps of Operation
Figure 6.12 SequenomTM: Evolution of the NIPT Portfolio
Figure 6.13 SequenomTM: Annual Revenues, 2011-Q1 2016 (USD Million)
Figure 6.14 SequenomTM: Product Portfolio
Figure 6.15 Verifi® Prenatal Test: Eligible Patient Population
Figure 6.16 Verifi® Prenatal Test: Steps of Operation
Figure 7.1 Newborn Screening: Modes of Operation
Figure 7.2 NOVATM Newborn Genetic Test: Eligible Patient Population
Figure 7.3 NOVATM Newborn Genetic Test: Steps of Operation
Figure 7.4 Cordlife Group: Annual Revenues, 2012-2016 (USD Million)
Figure 7.5 Cordlife Group: Product Portfolio
Figure 7.6 Genomi-k: Product Portfolio
Figure 7.7 PerkinElmer®: Annual Revenues, 2012-Q1 2017 (USD Million)
Figure 7.8 Newborn Screening Programs: Current Geographical Spread
Figure 8.1 Carrier Testing: General Procedure
Figure 8.2 Carrier Testing: Recessive Disorders Inheritance
Figure 8.3 Carrier Testing: Clinical Benefits
Figure 8.4 Types of Predictive Testing
Figure 8.5 PGD: General Procedure
Figure 8.6 PGD: Most Common Types of Genetic Disorders
Figure 8.7 Purpose of Opting for Genetic Counseling
Figure 8.8 Reasons for Opting for Genetic Counseling
Figure 8.9 Essential Components of Genetic Counseling
Figure 8.10 Types of Genetic Counseling Services
Figure 9.1 Recent Collaborations in NIPT: Distribution by Year
Figure 9.2 Recent Collaborations in NIPT: Distribution by Type of Model
Figure 9.3 Recent Collaborations in NIPT: Most Active Players
Figure 9.4 Recent Collaborations in Newborn Screening: Distribution by Year
Figure 9.5 Recent Collaborations in Newborn Screening: Distribution by Type of Model
Figure 9.6 Recent Collaborations in Newborn Screening: Most Active Players
Figure 10.1 NIPT Market (2017-2027): Base Scenario (USD Billion)
Figure 10.2 NIPT Market (2017-2027): Distribution by Patient Risk Group, Base Scenario (USD Billion)
Figure 10.3 NIPT Market: Share by Patient Risk Groups, 2017, 2027 (USD Billion, %)
Figure 10.4 NIPT Market (2017-2027): Distribution by Geography, Base Scenario (USD Billion)
Figure 10.5 NIPT Market (2017-2027): Distribution by Geography, Base Scenario (Test Volume, Million)
Figure 10.6 NIPT Market: Share by Geography, 2017, 2027 (%)
Figure 10.7 NIPT Market in North America (2017-2027): Base Scenario (USD Billion)
Figure 10.8 NIPT Market in North America (2017-2027): Base Scenario (Test Volume, Million)
Figure 10.9 NIPT Market in Europe (2017-2027): Base Scenario (USD Billion)
Figure 10.10 NIPT Market in Europe (2017-2027): Base Scenario (Test Volume, Million)
Figure 10.11 NIPT Market in Asia (2017-2027): Base Scenario (USD Billion)
Figure 10.12 NIPT Market in Asia (2017-2027): Base Scenario (Test Volume, Million)
Figure 10.13 NIPT Market in Rest of the World (2017-2027): Base Scenario (USD Billion)
Figure 10.14 NIPT Market in Rest of the World (2017-2027): Base Scenario (Test Volume, Million)
Figure 10.15 NIPT Market: Share by Indication, 2017, 2027 (%)
Figure 10.16 NIPT Market: Share by Stage of Pregnancy, 2027 (%)
Figure 10.17 NIPT Market: Share by Individual NIPTs, 2017 (%)
Figure 11.1 Overall NIPT Market (USD Billion), 2017, 2022 and 2027
Figure 13.1 Survey Analysis: Distribution by Type of Company
Figure 13.2 Survey Analysis: Distribution by Location of Respondents
Figure 13.3 Survey Analysis: Distribution by Seniority Level of Respondents
Figure 13.4 Survey Analysis: Distribution by Focus Area of the Company
Figure 13.5 Survey Analysis: Distribution by Type of Lead Products(s)
Figure 13.6 Survey Analysis: Distribution by Purpose of Lead Product(s)
Figure 13.7 Survey Analysis: Distribution by Commercial Availability of Lead Product(s)
Figure 13.8 Survey Analysis: Distribution by Likely Market Size of Prenatal Testing
Figure 13.9 Survey Analysis: Distribution by Likely Market Size of Newborn Screening
Table 3.1 Differences Between Screening and Diagnostic Tests
Table 3.2 Common Disorders: Annual Cost of Treatment
Table 3.3 Common Genetic Disorders: Causes and Symptoms
Table 3.4 Prenatal Testing: Invasive and Non-Invasive Methods
Table 3.5 Test Combinations in Triple and Quadruple Screen
Table 3.6 Triple Screen Assay: Abnormal Levels of Markers in Different Disorders
Table 3.7 Prenatal Screening Tests: Risk Assessment Strategies
Table 4.1 NIPTs: Development Landscape
Table 4.2 NIPT: Comparison of Sequencing based Technology Platforms
Table 4.3 NIPT: Technology Platforms
Table 4.4 Prenatal Testing: Other Initiatives
Table 4.5 Newborn Screening Tests: Development Landscape
Table 4.6 Newborn Screening: Other Initiatives
Table 5.1 NIPTs: Distribution by Geographical Coverage
Table 5.2 Heat Map Analysis: Scoring Criteria
Table 5.3 Commercialized NIPTs: A Competitive Heat Map Analysis
Table 5.4 Harvey Ball Analysis: Evaluation Criteria
Table 5.5 NIPT Harvey Ball Analysis: Distribution by Indications Screened Under Test Panel
Table 6.1 Ariosa Diagnostics: List of Funding Instances and Investors
Table 6.2 Harmony® Test: Launch Details for Different Geographies
Table 6.3 Harmony® Test: Published Studies
Table 6.4 Harmony® and Traditional Screening Methods: Comparison of Clinical Performance
Table 6.5 Harmony® Test: Comparison of Clinical Performance for Tested Indications
Table 6.6 Harmony® Test: Comparison of PPV in Different Patient Cohorts
Table 6.7 BGI: List of Funding Instances and Investors
Table 6.8 NIFTY® Test: Launch Details for Different Geographies
Table 6.9 Common NIPT Tests: Comparative Performance Evaluation
Table 6.10 NIFTY® and Traditional Screening Methods: Comparison of Clinical Performance
Table 6.11 NIFTY® Test: Published Studies
Table 6.12 NIFTY® Test: Comparison of Test Performance for the Tested Indications
Table 6.13 Natera®: List of Funding Instances and Investors
Table 6.14 Natera®: Summary of Marketed Products
Table 6.15 Panorama® Test: Launch Details for Different Geographies
Table 6.16 Panorama® Test: Available Options and Cost Details
Table 6.17 Panorama® Test: Comparison of PPV in Different Patient Cohorts
Table 6.18 Panorama® and Traditional Screening Methods: Comparison of Clinical Performance
Table 6.19 Panorama® Test: Comparison of Clinical Performance for Tested Indications
Table 6.20 Panorama® Test: Ongoing Clinical Trials
Table 6.21 SequenomTM NIPTs: Launch Details for Different Geographies
Table 6.22 SequenomTM: List of Funding Instances and Investors
Table 6.23 SequenomTM: Product Details
Table 6.24 MaterniT® GENOME Test: Comparison with Fetal Karyotype Test
Table 6.25 MaterniT® GENOME Test: Comparison of Clinical Performance for Tested Indications
Table 6.26 MaterniT® GENOME Test: Reasons for Increase in Clinical Uptake
Table 6.27 VisibiliTTM Test: Comparison of Clinical Performance for Tested Indications
Table 6.28 MaterniT21® PLUS Test: Published Studies
Table 6.29 NextViewTM Array Diagnostic Test Platform: Panel Options
Table 6.30 Illumina®: Regional Laboratory Partners for Verifi® Prenatal Test
Table 6.31 Verinata Health: List of Funding Instances and Investors
Table 6.32 Verifi® Prenatal Test: Launch Details for Different Geographies
Table 6.33 Verifi® Prenatal Test: Comparison of Clinical Performance for Tested Indications
Table 6.34 Popular NIPTs: A Detailed Comparision
Table 7.1 Traditional and Next-Generation Newborn Screening: Comparison
Table 7.2 Newborn Screening: List of Companies Profiled
Table 7.3 NOVATM Newborn Genetic Test: Clinical Performance Validation
Table 7.4 Cordlife Group: List of Funding Instances and Investors
Table 7.5 MetaScreenTM Testing Platforms: A Detailed Comparison
Table 7.6 MetaScreenTM: Available Options
Table 7.7 Parabase Genomics: List of Funding Instances and Investors
Table 7.8 PerkinElmer® Diagnostics Segment: Product Details
Table 7.9 PerkinElmer® Genetics: Available Products and Cost Details
Table 7.10 AB SCIEX: Company Profile
Table 7.11 Aegis Sciences: Company Profile
Table 7.12 ARCHIMEDlife: Company Profile
Table 7.13 Baby Genes: Company Profile
Table 7.14 CENTOGENE: Company Profile
Table 7.15 EGL Genetic Diagnostics: Company Profile
Table 7.16 GeneTech: Company Profile
Table 7.17 iLife Discoveries: Company Profile
Table 7.18 Macrogen: Company Profile
Table 7.19 MapmygenomeTM: Company Profile
Table 7.20 Navigene Genetic Science: Company Profile
Table 7.21 NeoGen Labs: Company Profile
Table 7.22 Next Biosciences: Company Profile
Table 7.23 NIMGenetics: Company Profile
Table 7.24 Pediatrix Medical Group: Company Profile
Table 7.25 PreventiNe Life Care: Company Profile
Table 7.26 Synapse Diagnostics: Company Profile
Table 7.27 Trivitron Healthcare: Company Profile
Table 7.28 Recommended Uniform Screening Panel (RUSP): Core and Secondary Disorders
Table 8.1 Carrier Testing: Most Prominent Disorders
Table 8.2 Carrier Testing / Preconception Care: Commercialized Tests
Table 8.3 PGD / PGS: Commercialized Tests
Table 9.1 NIPT: Recent Collaborations (2011-2017)
Table 9.2 Newborn Screening: Recent Collaborations (2011-2017)
Table 10.1 NIPT Forecast Assumptions: Patient Population
Table 10.2 NIPT Forecast Assumptions: Price Estimation
Table 10.3 NIPT Forecast Assumptions: Adoption Rates and Geographical Trends
Table 10.4 Newborn Screening: Opportunity Analysis, 2017-2027
Table 13.1 Survey Response: Overview of the Participating Companies
Table 13.2 Survey Response: Seniority Level of Respondents
Table 13.3 Survey Response: Focus Area of the Company
Table 13.4 Survey Response: Type of Lead Product(s)
Table 13.5 Survey Response: Purpose of Lead Product(s)
Table 13.6 Survey Response: Commercial Availability of Lead Product(s)
Table 13.7 Survey Response: Likely Market Size
Table 14.1 Chromosomal Abnormalities: Distribution by Type
Table 14.2 Common Causes of Deaths in Newborns
Table 14.3 NIPT: Distribution by Stage of Development
Table 14.4 NIPT: Distribution by Technology Platform
Table 14.5 NIPT: Distribution by Type of Indications
Table 14.6 NIPT: Distribution by Chromosomal Abnormalities
Table 14.7 NIPT: Distribution by Sex Chromosomal Abnormalities
Table 14.8 NIPT: Distribution by Microdeletion Syndromes
Table 14.9 NIPT: Distribution by Stage of Pregnancy
Table 14.10 NIPT: Distribution by Result Turnaround Time
Table 14.11 Newborn Screening: Distribution by Screening Type
Table 14.12 Newborn Screening: Distribution by Technology Platforms
Table 14.13 Newborn Screening: Distribution by Type of Indications
Table 14.14 Newborn Screening: Distribution by Screening Type on the Basis of Period of Sample Collection After Birth
Table 14.15 Newborn Screening: Distribution by Result Turnaround Time
Table 14.16 Natera®: Annual Revenues, 2013-Q1 2017 (USD Million)
Table 14.17 SequenomTM: Annual Revenues, 2011-Q1 2016 (USD Million)
Table 14.18 Cordlife Group: Annual Revenues, 2012-2016 (USD Million)
Table 14.19 PerkinElmer®: Annual Revenues, 2012-Q1 2017 (USD Million)
Table 14.20 Recent Collaborations in NIPT: Distribution by Year
Table 14.21 Recent Collaborations in NIPT: Distribution by Type of Model
Table 14.22 Recent Collaborations in NIPT: Most Active Players
Table 14.23 Recent Collaborations in Newborn Screening: Distribution by Year
Table 14.24 Recent Collaborations in Newborn Screening: Distribution by Type of Model
Table 14.25 Recent Collaborations in Newborn Screening: Most Active Players
Table 14.26 NIPT Market: Distribution by Patient Population into Risk Groups
Table 14.27 NIPT Market (2017-2027): Base Scenario (USD Billion)
Table 14.28 NIPT Market (2017-2027): Optimistic Scenario (USD Billion)
Table 14.29 NIPT Market (2017-2027): Conservative Scenario (USD Billion)
Table 14.30 NIPT Market (2017-2027): Distribution by Patient Risk Group, Base Scenario (USD Billion)
Table 14.31 NIPT Market (2017-2027): Distribution by Patient Risk Group, Optimistic Scenario (USD Billion)
Table 14.32 NIPT Market (2017-2027): Distribution by Patient Risk Group, Conservative Scenario (USD Billion)
Table 14.33 NIPT Market: Share by Patient Risk Group, 2017, 2027 (USD Billion, %)
Table 14.34 NIPT Market (2017-2027): Distribution by Geography, Base Scenario (USD Billion)
Table 14.35 NIPT Market (2017-2027): Distribution by Geography, Optimistic Scenario (USD Billion)
Table 14.36 NIPT Market (2017-2027): Distribution by Geography, Conservative Scenario (USD Billion)
Table 14.37 NIPT Market (2017-2027): Distribution by Geography, Base Scenario (Test Volume, Million)
Table 14.38 NIPT Market (2017-2027): Distribution by Geography, Optimistic Scenario (Test Volume, Million)
Table 14.39 NIPT Market (2017-2027): Distribution by Geography, Conservative Scenario (Test Volume, Million)
Table 14.40 NIPT Market: Share by Geography, 2017, 2027 (%)
Table 14.41 NIPT Market in North America (2017-2027): Base Scenario (USD Billion)
Table 14.42 NIPT Market in North America (2017-2027): Optimistic Scenario (USD Billion)
Table 14.43 NIPT Market in North America (2017-2027): Conservative Scenario (USD Billion)
Table 14.44 NIPT Market in North America (2017-2027): Base Scenario (Test Volume, Million)
Table 14.45 NIPT Market in North America (2017-2027): Optimistic Scenario (Test Volume, Million)
Table 14.46 NIPT Market in North America (2017-2027): Conservative Scenario (Test Volume, Million)
Table 14.47 NIPT Market in Europe (2017-2027): Base Scenario (USD Billion)
Table 14.48 NIPT Market in Europe (2017-2027): Optimistic Scenario (USD Billion)
Table 14.49 NIPT Market in Europe (2017-2027): Conservative Scenario (USD Billion)
Table 14.50 NIPT Market in Europe (2017-2027): Base Scenario (Test Volume, Million)
Table 14.51 NIPT Market in Europe (2017-2027): Optimistic Scenario (Test Volume, Million)
Table 14.52 NIPT Market in Europe (2017-2027): Conservative Scenario (Test Volume, Million)
Table 14.53 NIPT Market in Asia (2017-2027): Base Scenario (USD Billion)
Table 14.54 NIPT Market in Asia (2017-2027): Optimistic Scenario (USD Billion)
Table 14.55 NIPT Market in Asia (2017-2027): Conservative Scenario (USD Billion)
Table 14.56 NIPT Market in Asia (2017-2027): Base Scenario (Test Volume, Million)
Table 14.57 NIPT Market in Asia (2017-2027): Optimistic Scenario (Test Volume, Million)
Table 14.58 NIPT Market in Asia (2017-2027): Conservative Scenario (Test Volume, Million)
Table 14.59 NIPT Market in Rest of the World (2017-2027): Base Scenario (USD Billion)
Table 14.60 NIPT Market in Rest of the World (2017-2027): Optimistic Scenario (USD Billion)
Table 14.61 NIPT Market in Rest of the World (2017-2027): Conservative Scenario (USD Billion)
Table 14.62 NIPT Market in Rest of the World (2017-2027): Base Scenario (Test Volume, Million)
Table 14.63 NIPT Market in Rest of the World (2017-2027): Optimistic Scenario (Test Volume, Million)
Table 14.64 NIPT Market in Rest of the World (2017-2027): Conservative Scenario (Test Volume, Million)
Table 14.65 NIPT Market: Share by Indication, 2017, 2027 (%)
Table 14.66 NIPT Market: Share by Stage of Pregnancy, 2017 (%)
Table 14.67 NIPT Market: Share by Individual NIPTs, 2017 (%)
Table 14.68 Overall NIPT Market Summary (USD Billion): 2017, 2022 and 2027
Table 14.69 Survey Analysis: Distribution by Type of Company
Table 14.70 Survey Analysis: Distribution by Location of Respondents
Table 14.71 Survey Analysis: Distribution by Seniority Level of Respondents
Table 14.72 Survey Analysis: Distribution by Focus Area of the Company
Table 14.73 Survey Analysis: Distribution by Lead Product(s)
Table 14.74 Survey Analysis: Distribution by Purpose of Lead Product(s)
Table 14.75 Survey Analysis: Distribution by Commercial Availability of Lead Product(s)
Table 14.76 Survey Analysis: Distribution by Likely Market Size of Prenatal Testing
Table 14.77 Survey Analysis: Distribution by Likely Market Size of Newborn Screening