New to Insight Pharma Reports is Prenatal Diagnostics: Invasive Testing, Noninvasive Testing, and Rising Maternal Screening Methods for Preeclampsia and Preterm Labor. This report discusses improvements in invasive procedures (karyotyping vs. cytogenetics), and the rise of noninvasive screening methods and their impact on prenatal healthcare. Although covering standard invasive procedure, this report focuses on the noninvasive technologies either on the market or in development.

Highlighting noninvasive methods, several companies have come out with novel technologies that allow them to analyze fetal DNA without risk of injury to the mother or fetus. Amniocentesis and chorionic villus sampling are common methods used to analyze fetal DNA for aneuploidies but at the risk of miscarriage and infection. With noninvasive procedures, screening can be done for common aneuploidies and further analysis can be done on women with only positive results. This not only decreases the amount of unnecessary invasive testing but also the amount of unnecessary stress levels of many expecting mothers. Companies participating in this section include:

• Sequenom
• Verinata Health
• Ariosa Diagnostics
• Natera
• Silicon Biosystems

Other areas discussed in this report include preeclampsia and preterm labor. Preeclampsia is a common condition in women and often isn’t detected until later in pregnancy. It can lead to preterm labor, which may be fatal for both the fetus and the mother. So far, a test to screen for the likelihood of preeclampsia does not exist. Detecting the risk of preeclampsia early in pregnancy can allow the expecting mother to take necessary action to avoid preterm labor at all costs, decreasing any complications that may severely affect the fetus including death. Companies highlighted in this section include:

• Metabolomic Diagnostics
• NX PharmaGen

Report Highlights:

• Company goals, customer feedback, challenges encountered, competitive advantage, platform pricing, and future endeavors
• An exclusive Insight Pharma Reports survey specifically highlighting organizational background, areas of research, challenges encountered, and applications in development
• Clinical trial and pipeline data on over 120 products
• Over 130 Company Profiles
• Exclusive interviews with:
  • Vardit Ravitsky, PhD Associate Professor, Bioethics Programs, School of Public Health, University of Montreal
  • Tom Musci, Chief Medical Officer of Ariosa Diagnostics
  • Richard Rava, Vice President, Research and Development of Verinata
  • Solomon Moshkevich, Vice-President, Marketing and Business Development of Natera
  • Robert Proulx, President & GM U.S. Operations of Silicon Biosystems
  • Charles Garvey, Chief Executive Officer of Metabolomic Diagnostics
  • Dr. Alan Ezrin and Brian Brohman, Co-Founder, Chief  Executive Officer of NX PharmaGen; Chief Business Officer of NX PharmaGen
  • William Welch; Dirk van den Boom; and Allan Bombard, President and Chief Operating Officer of Sequenom; Executive Vice President, Research & Development and Chief Technology Officer of Sequenom; Chief Medical Officer of Sequenom

Executive Summary

Prenatal diagnostics is a rapidly expanding field. Many of the technologies coming out now have several noticeable pros and cons, but the hype is that newer methods are able to detect prenatal abnormalities without using invasive procedures.

The first chapter of this report, although brief, discusses microarray-based cytogenetics and how it compares to karyotyping. Karyotyping is often the standard method used to detect chromosomal aneuploidies, but with microarray-based procedures even more aneuploidies can be detected with the same efficacy. Either method can be used in sync with noninvasive procedures that show positive screening results for aneuploidies, but microarray analysis may be more useful for copy number variations that often go undetected with karyotyping.

Also on the rise are noninvasive procedures for improving healthcare. Several companies have developed novel technologies that analyze fetal DNA without risk of injury to the mother or fetus. Amniocentesis and chorionic villus sampling are common methods used to analyze fetal DNA for aneuploidies but at the risk of miscarriage and infection. With noninvasive procedures, screening can be done for common aneuploidies and further analysis can be done on women with only positive results. This not only decreases the amount of unnecessary invasive testing but also unnecessary stress of many expecting mothers. Companies that are highlighted in this section include Sequenom, Verinata Health, Ariosa Diagnostics, Natera and Silicon Biosystems.

Other areas discussed in this report include preeclampsia and preterm labor. Preeclampsia is a common condition in women and often isn’t detected until later in pregnancy. It can lead to preterm labor, which may be fatal for both the fetus and the mother. So far, a test to screen for the likelihood of preeclampsia does not exist. Detecting the risk of preeclampsia early in pregnancy can allow the expecting mother to take necessary precautions to avoid preterm labor at all costs, decreasing any complications that may severely affect the fetus including death. Companies that are highlighted in this space include Metabolomic Diagnostics and NX PharmaGen.

In addition to covering several aspects of prenatal diagnostics, this report also includes specifications of particular instruments, and exclusive interviews with CEOs, CSOs, and Vice Presidents of the participating companies. Specific areas of focus include company goals, customer feedback, challenges encountered, competitive advantage, platform pricing, and future endeavors. A survey capturing the demographics of the prenatal industry is presented at the end of the report, specifically highlighting organizational background, areas of research, challenges encountered, and applications in development. Also included is a directory of companies that were and were not interviewed for this report.

Table of Contents

Executive Summary

Part I: Prenatal Applications
Chapter 1: Invasive Testing
Karyotyping
Microarray analysis

Chapter 2: Noninvasive Testing
Sequence-based cell-free DNA testing
Fetal cell isolation

Part II: Noninvasive Prenatal Applications
Chapter 3: Sequenom
Company background
Areas of Research
MaterniT21™ PLUS
MaterniT21 PLUS validation
Competitive advantage
Future endeavors
Interview with William Welch; Dirk van den Boom; and Allan Bombard
Company background
Technologies in development
SEQureDx platform
MaterniT21 platform
Validation techniques
Areas of improvement
Competitive advantage
Customer feedback
Future endeavors

Chapter 4: Verinata Health
Company background
The verifi® prenatal test
Challenges encountered
Clinical validation and reimbursement
Customer feedback
Interview with Richard Rava
Company background
verifi® prenatal test
Challenges encountered
Competitive advantage

Chapter 5: Ariosa Diagnostics
Company background
Harmony Prenatal Test
Competitive advantage
Future endeavors
Interview with Tom Musci
Company background
Harmony Test
Competitive advantage
Future endeavors

Chapter 6: Natera
Company background
Panorama
Platform improvements
Validation
Challenges encountered
Competitive advantage
Future endeavors
Interview with Solomon Moshkevich
Company background
Panorama
Platform improvements
Validation
Challenges encountered
Customer feedback
Competitive advantage
Future endeavors

Chapter 7: Silicon Biosystems
Company background
DEPArray System
Challenges encountered
Competitive advantage
Future endeavors
Interview with Robert Proulx
Company background
DEPArray Platform
Challenges encountered
Customer feedback
Future endeavors

Chapter 8: Noninvasive Screening Test Specifications

Part III: Prenatal Complications
Chapter 9: Prenatal Complications
Preeclampsia
Preterm labor

Chapter 10: Metabolomic Diagnostics
Company background
Preeclampsia screening test
Competitive advantage
Future endeavors
Interview with Charles Garvey
Company background
Areas of research
Competitive advantage
Future endeavors

Chapter 11: NX PharmaGen
Company background
NeXosome platform
Competitive advantage
Future endeavors
Interview questions with Dr. Alan Ezrin and Brian Brohman
Company background
Preterm labor assays
Challenges encountered
Competitive advantage
Future endeavors

Part IV: Demographic Survey
Chapter 12: Survey Results
Survey demographics
Areas of research
Challenges encountered
Applications being used for prenatal diagnostics
Competitive strategies

Part V: Company Directory: A list of companies working in Prenatal Diagnostics

List of Tables:

Table 3.1: MaterniT21 PLUS aneuploidy performance
Table 3.2: MaterniT21 PLUS
Table 4.1: verifi prenatal test performance for aneuploidies
Table 4.2: verifi prenatal test performance for sex chromosomes
Table 4.3: verifi prenatal test
Table 5.1 Harmony Test
Table 6.1: Panorama Test
Table 7.1: DEPArray System
Table 8.1: Noninvasive screening test specifications

List of Figures:

Figure 12.1: Survey demographics
Figure 12.2: Screening vs. testing
Figure 12.3: Specific areas of research
Figure 12.4: Challenges encountered
Figure 12.5: Preferred applications of use
Figure 12.6: Competitive strategies