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