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市場調查報告書

產前、母體診斷的全球市場分析 (到2020年)

Global Prenatal & Maternal Diagnostic Market Analysis to 2021

出版商 Kelly Scientific Publications 商品編碼 346266
出版日期 內容資訊 英文 389 Pages
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產前、母體診斷的全球市場分析 (到2020年) Global Prenatal & Maternal Diagnostic Market Analysis to 2021
出版日期: 2016年09月01日 內容資訊: 英文 389 Pages
簡介

產前 (胎兒、新生兒) 檢驗,是檢查染色體、DNA、RNA、遺傳基因等,診斷是否胎兒罹患先天性心臟病的技術。2011年NIPT (非侵入性、產前檢查)實施之後,使產前篩檢產業產生革命性變化。現在全球50個國家實施效率性的新生兒遺傳基因檢驗,譬如美國,每年有400萬新生兒接受檢驗,其中3000人發現有代謝、遺傳基因疾病。早期發現有先天性疾病的新生兒,施給必要的治療以延長壽命,是產前/新生兒篩檢的目的。各種檢驗方法中,尤以使用胚胎著床前遺傳基因篩檢/遺傳基因診斷 (PGS/PGD) ,及cffDNA (無細胞胎兒DNA) 的NIPT (非侵入性產前檢查) 受廣泛實施。

本報告提供全球出席前篩檢及新生兒檢驗、母體診斷的市場相關分析、主要的診斷、治療對象概要 (妊娠併發症、遺傳基因疾病等) ,及主要產前/新生兒/胚胎著床前篩檢技術的概要、市場競爭力和資本交易趨勢、今後的市場規模趨勢預測、主要企業簡介、主要產品、產業策略等的相關調查。

第1章 簡介

第2章 產前的妊娠併發症:概要

  • 高齡生產 (AMA)
  • 從妊娠前開始發病的妊娠併發症
  • 妊娠中發病的症狀
  • 妊娠有關的各種問題
    • 早產
    • 前置胎盤
    • 臀位
    • 羊水過少及羊水過多
  • 胎兒相關的問題
    • 胎兒生長受限
    • 肛門閉鎖
    • 先天性心臟病

第3章 胎兒的遺傳基因疾病的種類:概要

  • 單一遺傳基因疾病
  • 染色體疾病
  • 結構性遺傳基因異常

第4章 遺傳諮詢:概要

  • 近幾年臨床基因學的進步帶給遺傳諮詢的影響
  • DTC GT (消費者直接耦合型遺傳基因檢驗) 產業的遺傳諮詢

第5章 遺傳基因疾病的產前篩檢:概要

  • 產前例行性篩檢檢驗
  • 頻率更低的產前篩檢檢驗
  • β-hCG (β-人類絨毛膜性腺激素) 篩檢檢驗
  • 妊娠第1期PAPP-A (妊娠相關血漿蛋白質A) 篩檢檢驗
  • MSAFP (母體血清甲種胎兒蛋白) 篩檢檢驗
  • 妊娠第2期β-hCG篩檢檢驗
  • 妊娠第2期uE3 (游離雌三醇) 篩檢檢驗
  • 妊娠第2期抑制素-A篩檢檢驗
  • 妊娠第2期己醣胺酶檢驗
  • 妊娠第2期三重檢驗/四重篩檢檢驗
  • 妊娠第2期cffDNA (無細胞胎兒DNA) 篩檢
  • 妊娠第1期超音波檢驗
  • 產前MRI (核磁共振成像) 篩檢
  • 產前遺傳基因疾病診斷
  • 產前診斷檢驗的優點和缺點
  • 產前的侵入性診斷檢驗的未來性
  • 非侵入性產前檢查的無傷循環胎兒細胞
  • TRIC (由子宮頸部的營養芽層的回收、隔離)

第6章 新生兒的篩檢

  • 在已開發國家、發展中國家的新生兒篩檢現況
  • 在中東、北非 (MENA) 各國的新生兒篩檢現況
  • 美國的新生兒篩檢
  • 最常見的新生兒的遺傳基因疾病
    • 苯酮尿症 (PKU)
    • 先天性甲狀腺機能低下症 (CHT)
    • 先天性腎上腺增生症
    • 半乳糖血症
    • 鐮型血球貧血症 (SCD)
    • 生物素酵素缺乏
    • 高胱胺酸尿症
    • 楓糖漿尿病 (MSUD)

第7章 胚胎著床前遺傳基因篩檢/遺傳基因診斷 (PGS/PGD)

  • PGS/PGD技術
    • 螢光原位雜合 (FISH)
    • 微陣列比較基因組雜合 (aCGH)
    • 單核苷酸多態性 (SNP) 微陣列
    • OGN (寡核甘酸、基因、定序)
    • 表現基因測序 (EGS)
    • 下一代型定序 (NGS)
  • 現在可以利用的PGS/PGD技術的優點、缺點
  • PGD能發現的遺傳基因疾病
  • 已上市的PGS/PGD檢驗產品
  • 體外受精及相關治療的成本

第8章 妊娠、產前、新生兒、PGD檢驗的相關技術:概要

  • β-hCG檢驗
  • PAPP-A檢驗
  • MSAFP檢驗
  • uE3檢驗
  • 抑制素A檢驗
  • 胎兒的染色體組型分類
  • 擴張型的染色體檢驗、研究
  • 侵入性產前診斷的技術創新
  • 產前篩檢的進步:「馬上明白」事的優勢
  • 產前篩檢用的串聯式質譜光譜檢測 (MS/MS)
  • 產前篩檢的胎兒超音波檢驗
  • 治療用基因編輯:突破性技術

第9章 產前篩檢、診斷:市場概要

  • 胎兒超音波檢驗的全球市場
  • 產前MRI篩檢的全球市場
  • 母體血清篩檢檢驗的全球市場
  • 使用cffDNA的NIPT (非侵入性產前檢查) 的全球市場
  • 侵入性、產前診斷檢驗的全球市場
  • 新生兒取向遺傳基因疾病篩檢的全球市場
  • PGS/PGD的全球市場

第10章 其他遺傳基因檢驗相關的市場

  • 分子診斷市場新趨勢
  • 液體切片檢查市場新趨勢
  • 個人化醫療、診斷市場新趨勢
  • 體外診斷 (IVD) 市場新趨勢

第11章 SWOT分析及市場策略分析

  • 產前篩檢產業的企業收購活動
  • 推動市場要素
  • 阻礙市場要素
  • 產前篩檢的未來性
  • 全球各國的新生兒篩檢的法規制定、義務化的動向
  • 對於NIPT/NIPD的實際適用,來自倫理觀點的反對意見
  • NIPT引進臨床現場
  • 美國國內的各種產前檢查的引進率

第12章 企業簡介

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

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目錄
Product Code: 2016PMD

Prenatal tests (fetus, embryos and newborns) currently on the market analyze chromosomes, DNA, RNA, genes, and/or gene products to determine whether an abnormality is present that is causative of a specific disease. Since 2011, the launch of noninvasive prenatal tests (NIPTs) is revolutionizing the prenatal screening industry providing detection rates of >99% and false positive rates of <0.1%. These screening results are only indicative of the risk and not confirmative. To confirm positive results of NIPT screening tests, prenatal diagnostic tests such as amniocentesis and chorionic villus sampling (CVS) are performed. Prior to NIPTs, ultrasound and maternal serum tests were routinely used to screen fetusus for genetic abnormalities.

Globally, 50 countries have effective newborn genetic test programs, the implementation of which is in various stages. In the U.S., four million newborns are tested annually, with 3,000 found to have metabolic and genetic diseases. The purpose of newborn screening is to identify affected newborns quickly and provide them with treatment to prevent mental retardation, prolonged illness and death. The newborn genetic screening market is crowded with different technologies, the common being tandem mass spectrometry, pulse oximetry, enzyme-based assays, DNA assays and electrophoresis.

Preimplantation genetic screening and preimplantation genetic diagnosis (PGS/PGD) are genetic tests performed in eight-celled embryos before implantation during in vitro fertilization (IVF) for the detection of genetic abnormalities and sex. These tests can detect and diagnose chromosomal rearrangements, X-linked diseases and help in reducing the incidence of spontaneous abortions, increase implantation rates, prevent trisomic offsprings and avoid the risk of transmitting single gene disorders. However, PGS and PGD results are not 100% accurate and after pregnancy, if required the diagnostic tests such as amniocentesis and CVS are to be performed to confirm the positive results of PGS/PGD. In the U.S. alone, more than 63,000 babies were born through IVF in 2013 and compared to 2012 data; it was an increase of 2,000 births.

The most important development in the field of prenatal screening, is the introduction of NIPTs using cell-free fetal DNA (cffDNA) in 2011. Obstetricians and patients who are deterred by the 10% to 15% false positive rates of ultrasound screening and 5% false positive rates of maternal serum tests are eagerly embracing NIPTs which claim to have only <0.1% of false positive results.

Within just four years, molecular genetics firms have successfully produced eight different types of kits for the detection of genetic abnormalities in the fetus. These products have been gradually marginalizing the maternal serum tests and in another decade, maternal serum tests are expected to become obsolete. If, companies can develop NIPTs with a 100% accuracy rate, maternal serum tests, amniocentesis and CVS will all be completely overshadowed by NIPTs. Despite the growing popularity of NIPTs, maternal serum tests still continue to have some market due to their low price. While the maternal serum tests are available for just $x to $x, NIPTs are priced between $x and $x. However, Sequenom reportedly sold over x tests in 2013 and so pricing does not seem to be a deterrent factor. The introduction of technologies such as digital PCR and next-generation sequencing (NGS) or massively parallel sequencing (MPS) have also enabled accurate estimation of very small differences in chromosome-specific sequences in maternal blood.

The objective of this report is to provide an overview of the various technologies being employed for detecting genetic diseases in embryos, fetuses and newborns. The various chapters describe common pregnancy disorders, numerical chromosome disorders and structural chromosome disorders, single gene disorders inherited by fetuses, newborns and embryos. The global prenatal and maternal diagnostic test market is assessed with respect to:

  • Fetal Ultrasound
  • Prenatal MRI Screening
  • Maternal Serum Screening Tests
  • Noninvasive Prenatal Tests (NIPTs) using cffDNA
  • NIPTs by Product
  • Prenatal Diagnostic Invasive Tests
  • Newborn Screening for Genetic Diseases
  • Newborn Screening Market by Technology
  • Preimplantation Screening/Diagnosis (PGS/PGD) and carrier screening tests

SWOT and merger/acquisition analysis is also performed as is a comprehensive documentation of the legislation pertaining to newborn screening by geography and how clinical programs are implemented in developed and developing markets.

Emerging trends in associated markets are also analysed in order to give the reader a comprehensive overview of how prenatal and maternal diagnostic testing is affected by the following industries:

  • Molecular Diagnostics Market
  • Liquid Biopsy Market
  • Personalized Medicine Diagnostics Market
  • In vitro Diagnostics (IVD) Market

This is a comprehensive 390 page report strengthened with over 280 figures and tables. Published in September 2016, the‘ GLOBAL PRENATAL & MATERNAL DIAGNOSTIC MARKET TO 2021’ report by KellySciPub has a detailed overview of 114 companies in the market with specifics pertaining to financial and business strategy, current products on the market and pipeline products.

Key Questions Answered in this Report

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

Table of Contents

1.0. Introduction

  • 1.1. Executive Summary
  • 1.2. Objectives of this Report
  • 1.3. Key Questions Answered in this Report

2.0. Prenatal Pregnancy Complications: An Overview

  • 2.1. Advanced Maternal Age (AMA)
    • 2.1.1. Risk of Down Syndrome with Increased AMA
    • 2.1.2. Risk of Miscarriage with Increased AMA
    • 2.1.3. Risk of Cesarean Section with Increasing AMA
    • 2.1.4. Risk of Gestational Diabetes with AMA
    • 2.1.5. Risk for Pregnancy-Induced Hypertension with AMA
    • 2.1.6. Risk of Placenta Previa with AMA
    • 2.1.7. Delayed First Pregnancy in the U.S.
      • 2.1.7.1. First Birth Rates for 35-39 Aged U.S. Women by Race
  • 2.2. Pre-Existing Maternal Medical Conditions
    • 2.2.1. Pregnancy Outcome in Women with Renal Disease
    • 2.2.2. Pregnancy Outcome in Diabetic Women
    • 2.2.3. Pregnancy Outcome in Women with Pre-Existing Thyroid Disease
    • 2.2.4. Pregnancy Outcome in Obese Women
    • 2.2.5. Pregnancy Outcome in Asthmatic Women
    • 2.2.6. Pregnancy Outcome in Women with Epilepsy
    • 2.2.7. Pregnancy Outcome in Women with Autoimmune Diseases
    • 2.2.8. Pregnancy Outcome in Women with Hemoglobinopathies
    • 2.2.9. Pre-Existing Chronic Diseases among Women of Reproductive Ages in the U.S.
      • 2.2.9.1. Chronic Disease Risk Behaviors and Risk Factors among Women of Reproductive Ages in the U.S.
  • 2.3. Medical Conditions Occurring During Pregnancy
    • 2.3.1. Preeclampsia (Toxemia)
      • 2.3.1.1. Prevalence of Preeclampsia in the U.S.
    • 2.3.2. Gestational Diabetes in the U.S.
      • 2.3.2.1. Prevalence of Gestational Diabetes in the U.S.
  • 2.4. Pregnancy-Related Issues
    • 2.4.1. Premature Labor
      • 2.4.1.1. Common Medical Complications in Premature Babies
      • 2.4.1.2. Global Prevalence of Preterm Labor
      • 2.4.1.3. Prevalence of Preterm Births in the U.S. by Stage
      • 2.4.1.4. Prevalence of Preterm Births in the U.S. by Race/Ethnicity
      • 2.4.1.5. Prevalence of Preterm Births in the U.S. by Plurality of Birth
      • 2.4.1.6. Prevalence of Preterm Births in the U.S. by Maternal Age
      • 2.4.1.7. Multiple Births in the U.S.
    • 2.4.2. Placenta Previa
    • 2.4.3. Breech Presentation
    • 2.4.4. Meconium Stained Liquor
    • 2.4.5. Oligohydramnios and Polyhydramnios
  • 2.5. Fetal Problems
    • 2.5.1. Fetal Growth Restriction
    • 2.5.2. Imperforate Anus
    • 2.5.3. Congenital Heart Disease

3.0. Types of Genetic Diseases in Fetuses: An Overview

  • 3.1. Single Gene Disorders
    • 3.1.1. Autosomal Dominant Genetic Disorders
      • 3.1.1.1. Huntington Disease (HD)
      • 3.1.1.2. Familial Hypercholesterolaemia (FH)
      • 3.1.1.3. Marfan syndrome
      • 3.1.1.4. Myotonic Dystrophy
    • 3.1.2. Autosomal Recessive Genetic Disorders
      • 3.1.2.1. Cystic Fibrosis (CF)
      • 3.1.2.2. Canavan Disease
      • 3.1.2.3. Neutropenia
      • 3.1.2.4. Ellis-van Creveld Syndrome (EVC)
      • 3.1.2.5. Familial Mediterranean fever (FMF)
      • 3.1.2.6. Faconi Anemia (FA)
      • 3.1.2.7. Gaucher Disease
      • 3.1.2.8. Mucopolysaccharidosis (MPSs)
      • 3.1.2.9. Phenylketonuria (PKU)
      • 3.1.2.10. Sickle Cell Disease
      • 3.1.2.11. Beta-Thalassaemia
      • 3.1.2.12. Inheritance Pattern of Autosomal Recessive Genetic Disorders
      • 3.1.2.13. Chances of Inheriting a Single Gene Disorder
      • 3.1.2.14. Common Recessive Disease Traits in Selected Ethnic Groups
      • 3.1.2.15. Comprehensive List of Common Single Gene Disorders
    • 3.1.3. X-Linked Dominant Genetic Disorders
      • 3.1.3.1. Hypophosphotemic Rickets
      • 3.1.3.2. Incontinentia Pigmenti
      • 3.1.3.3. Focal Dermal Hypoplasia
      • 3.1.3.4. Orofaciodigital Syndrome
      • 3.1.3.5. Inheritance of Sex-Linked Dominant Disorders
    • 3.1.4. X-Linked Recessive Disorders
      • 3.1.4.1. Lesch-Nyhan Syndrome
      • 3.1.4.2. Menkes Disease (Kinky hair syndrome)
      • 3.1.4.3. Hemophilia A and B
      • 3.1.4.4. Fabry's Disease
      • 3.1.4.5. Wiskott-Aldrich syndrome (WAS)
      • 3.1.4.6. Bruton's Aggamaglobulinemia
      • 3.1.4.7. Color Blindness
      • 3.1.4.8. Complete Androgen Insensitivity Syndrome
      • 3.1.4.9. Inheritance of X-Linked Recessive Traits
  • 3.2. Chromosomal Disorders
    • 3.2.1. 47, XXY (Klinefelter Syndrome)
      • 3.2.1.1. Prenatal Diagnosis of Klinefelter Syndrome
    • 3.2.2. 47, XYY Syndrome
      • 3.2.2.1. Diagnosis of 47, XYY Syndrome
    • 3.2.3. 45, X Syndrome (Turner Syndrome)
      • 3.2.3.1. Prenatal Diagnosis of Turner Syndrome
    • 3.2.4. 47, XXX (Triple X Syndrome)
      • 3.2.4.1. Tests for Triple X Syndrome
    • 3.2.5. Trisomy 21 (Down Syndrome)
      • 3.2.5.1. Tests for Down Syndrome
      • 3.2.5.2. Incidence of Down Syndrome by Maternal Age
      • 3.2.5.3. Developmental Delay in Children with Down Syndrome
    • 3.2.6. Trisomy 18 (Edward's Syndrome)
      • 3.2.6.1. Prenatal Diagnosis of Trisomy
      • 3.2.6.2. Clinical Manifestations of Trisomy
    • 3.2.7. Trisomy 13 (Patau Syndrome)
      • 3.2.7.1. Prenatal Diagnosis of Trisomy
    • 3.2.8. Triploid Syndrome
      • 3.2.8.1. Congenital Anomalies Associated with Triploidy
      • 3.2.8.2. Prenatal Diagnosis of Triploidy
    • 3.2.9. Prevalence of Trisomies in the U.S.
      • 3.2.9.1. Trisomies and Abortions
    • 3.2.10. Maternal Age-Related Frequencies of Aneuploid Fetuses
    • 3.2.11. Clinical Features of Common Chromosomal Aneuploidy
    • 3.2.12. Maternal Age and Chromosomal Aneuploidy
    • 3.2.13. Sensitivity and Specificity of Maternal Serum and Ultrasound Tests for Aneuploids
  • 3.3. Structural Chromosomal Abnormalities
    • 3.3.1. Autosomal Deletions
      • 3.3.1.1. Wolf-Hirschhorn Syndrome (WHS)
      • 3.3.1.2. Cri du chat Syndrome
      • 3.3.1.3. Langer-Giedion Syndrome
    • 3.3.2. Common Autosomal Microdeletion Syndrome
      • 3.3.2.1. Williams Syndrome
      • 3.3.2.2. WAGR Syndrome
      • 3.3.2.3. Prader-Willi Syndrome (PWS)
      • 3.3.2.4. Angelman Syndrome
      • 3.3.2.5. Miller-Dieker Syndrome
      • 3.3.2.6. Smith-Magenis Syndrome (SMS)
      • 3.3.2.7. Alagille Syndrome (ALGS)
      • 3.3.2.8. CATCH 22 Syndrome
      • 3.3.2.9. DiGeorge Syndrome
    • 3.3.3. Autosomal Duplication Syndromes
      • 3.3.3.1. Beckwith-Wiedemann Syndrome (BWS)
      • 3.3.3.2. Charcot-Marie-Tooth Disease Type 1A (CMT1A)
      • 3.3.3.3. Cat-Eye Syndrome
    • 3.3.4. Appropriate Technologies for the Detection of Microdeletions, Duplications and Copy Number Variants

4.0. Genetic Counseling: An Overview

  • 4.1. Impact of Recent Advances in Clinical Genomics on Genetic Counseling
  • 4.2. Genetic Counselors in DTC GT Industry
    • 4.2.1. Types of Genetic Counseling Offered by DTC GT Companies
    • 4.2.2. Roles of Genetic Counselors in DCT GT Industry

5.0. Prenatal Screening for Genetic Diseases: An Overview

  • 5.1. Routine Prenatal Screening Tests
  • 5.2. Less-Routine Prenatal Screening Tests
  • 5.3. Beta Human Chorionic Gonadotropin (β-hCG) Screening Test
    • 5.3.1. hCG Kits and Manufacturers
  • 5.4. First Trimester Pregnancy-Associated Plasma Protein-A (PAPP-A) Screening Test
  • 5.5. Maternal Serum Alpha-Fetoprotein (MSAFP) Screening Test
  • 5.6. Second Trimester Serum β-hCG Screening Test
  • 5.7. Second Trimester Unconjugated Estriol (uE3) Screening Test
  • 5.8. Second Trimester Inhibin-A Screening Test
  • 5.9. Second Trimester Hexosaminidase Test
  • 5.10. Second Trimester Triple-Screen Quad Screen Tests
  • 5.11. Second Trimester Screening of Cell-Free Fetal DNA (cffDNA)
    • 5.11.1. Sensitivity and Specificity of NIPTs
    • 5.11.2. Diagnostic Applications of cffDNA
    • 5.11.3. Time of Availability of cffDNA in Maternal Blood
    • 5.11.4. The Cost of NIPTs
    • 5.11.5. Cost of NIPTs by Product
    • 5.11.6. History of Aneuploidy Testing from 1970s to
    • 5.11.7. NIPT Methods of Detecting Aneuploidy
      • 5.11.7.1. Shotgun Method
      • 5.11.7.2. Targeted Massively Parallel Sequencing (t-MPS)
      • 5.11.7.3. Single Nucleotide Polymorphisms (SNPs)
    • 5.11.8. Comparison of Amniocentesis and NIPT
    • 5.11.9. Advantages of NIPTs
    • 5.11.10. Disadvantages of NIPTs
    • 5.11.11. Comparison of Performance Criteria for Commonly used Prenatal Tests
    • 5.11.12. Comparison of NIPT Detection Rates with Traditional Tests
    • 5.11.13. False Positive Rates of NIPTs Compared with Those of Traditional Tests
    • 5.11.14. Fetal Genetic Disorders Detected by NIPTs and other Screening Tests
  • 5.12. First Trimester Ultrasound Screening Test
    • 5.12.1. Nuchal Translucency (NT) Screening Test
  • 5.13. Magnetic Resonance Imaging (MRI) in Prenatal Screening
  • 5.14. Prenatal Diagnosis of Genetic Disorders
    • 5.14.1. Amniocentesis (AC)
      • 5.14.1.1. Reliability of Amniocentesis
    • 5.14.2. Chorionic Villus Sampling (CVS)
      • 5.14.2.1. Reliability of CVS Test
    • 5.14.3. Cordocentesis or Percutaneous Umbilical Blood Sampling
  • 5.15. Advantages and Disadvantages of Prenatal Diagnostic Tests
  • 5.16. Future of Invasive Prenatal Diagnostic Tests
    • 5.16.1. Indispensability of Invasive Diagnostic Tests
  • 5.17. Intact Circulating Fetal Cells for Noninvasive Prenatal Tests
    • 5.17.1. Scheme for Isolating Intact Fetal Cells from Maternal Blood
  • 5.18. Trophoblast Retrieval and Isolation from Cervix (TRIC)

6.0. Newborn Screening

  • 6.1. Status of Newborn Screening in Developed and Developing Countries
  • 6.2. Status of Newborn Screening in Middle East and North Africa (MENA)
  • 6.3. Screening Tests Recommended for Newborns in the U.S.
  • 6.4. Most Common Newborn Genetic Disorders
    • 6.4.1. Phenylketonuria (PKU)
      • 6.4.1.1. Screening Tests Used for Diagnosis of PKU
    • 6.4.2. Congenital Hypothyroidism (CHT)
      • 6.4.2.1. Inheritance of CHT
      • 6.4.2.2. Signs and Symptoms of CHC
      • 6.4.2.3. Diagnosis of CHT
    • 6.4.3. Congenital Adrenal Hyperplasia
      • 6.4.3.1. Inheritance of Congenital Adrenal Hyperplasia
      • 6.4.3.2. Symptoms of Congenital Adrenal Hyperplasia
      • 6.4.3.3. Diagnosis of Congenital Adrenal Hyperplasia
    • 6.4.4. Galactosemia
      • 6.4.4.1. Signs and Symptoms of Galactosemia
      • 6.4.4.2. Diagnosis of Galactosemia
    • 6.4.5. Sickle Cell Disease (SCD)
      • 6.4.5.1. Symptoms of SCD
      • 6.4.5.2. Diagnosis of SCD
    • 6.4.6. Biotidinase Deficiency
      • 6.4.6.1. Inheritance of Biotidinase Deficiency
      • 6.4.6.2. Signs and Symptoms of Biotidinase Deficiency
      • 6.4.6.3. Diagnosis of Biotidinase Deficiency
    • 6.4.7. Homocystinuria
      • 6.4.7.1. Signs and Symptoms of Homocystinuria
      • 6.4.7.2. Diagnosis of Homocystinuria
    • 6.4.8. Maple Syrup Urine Disease (MSUD)
      • 6.4.8.1. Inheritance of MSUD
      • 6.4.8.2. Diagnosis of MSUD

7.0. Preconception/Carrier Screening

  • 7.1. Introduction
  • 7.2. What are the Main Commercially Available Carrier Tests on the Market?
  • 7.3. Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis (PGS/PGD)
  • 7.4. PGS/PGD Technologies
    • 7.4.1. Fluorescent in situ Hybridization (FISH)
    • 7.4.2. Array Comparative Genome Hybridization (aCGH)
    • 7.4.3. Single Nucleotide Polymorphism (SNP) Microarray
    • 7.4.4. Oligonucleotide Genome Sequencing (OGS)
    • 7.4.5. Express Genome Sequencing (EGS)
    • 7.4.6. Next Generation Sequencing (NGS)
  • 7.5. Strengths and Weaknesses of Currently Available PGS/PGD Technologies
  • 7.6. Genetic Diseases Detected During PGD
  • 7.7. PGS/PGD Testing Products in the Market
  • 7.8. Cost of in vitro Fertilization and Related Procedures

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

  • 8.1. Beta Human Chorionic Gonadotopin (β-hCG) Test
    • 8.1.1. Setting up the Test Strip
    • 8.1.2. Procedure of the Test
    • 8.1.3. Interpretation of β-hCG Test Result
  • 8.2. Pregnancy Associated Plasma Protein-A (PAPP-A) Test
    • 8.2.1. Principle of PAPP-A Test
  • 8.3. Maternal Serum Alpha Fetoprotein (MSAFP) Test
    • 8.3.1. Principle of MSAFP Test
  • 8.4. Unconjugated Estriol (uE3) Test
    • 8.4.1. Principle of uE3 Test
  • 8.5. Inhibin A Test
    • 8.5.1. Principle of Inhibin A Test
  • 8.6. Fetal Karyotyping
  • 8.7. Extended Banding Chromosome Studies
  • 8.8. Innovation in Invasive Prenatal Diagnosis
    • 8.8.1. Microarray: An Alternative for Karyotyping
    • 8.8.2. Rapid Aneuploid Detection by Quantitative Fluorescent PCR (QF-PCR)
      • 8.8.2.1. Principles of QF-PCR
    • 8.8.3. Fluorescence in situ Hybridization (FISH)
      • 8.8.3.1. The Format of Fish Test Result
      • 8.8.3.2. Commonly Used FISH-Based Tests
      • 8.8.3.3. Microdeletions/Microduplications Detectable by FISH
      • 8.8.3.4. Types of FISH Probes and Their Functions
    • 8.8.4. Microarray-Based Comparative Genomic Hybridization (array-CGH)
  • 8.9. Advances in Prenatal Screening: The Power to Know Sooner
    • 8.9.1. NIPTs: An Overview of Tests and Technologies
      • 8.9.1.1. Harmony Test
      • 8.9.1.2. InformaSeq
      • 8.9.1.3. Panorama Test
      • 8.9.1.4. Prena Test
      • 8.9.1.5. NIFTY Test
      • 8.9.1.6. IONA Test
      • 8.9.1.7. Verifi Test
      • 8.9.1.8. MaterniT GENOME Test
      • 8.9.1.9. MaterniT21 PLUS Test
      • 8.9.1.10. HeridiT UNIVERSAL Carrier Screen
    • 8.9.2. Comparison of MaterniT21 PLUS, Verifi, Harmony and Panorama Tests
    • 8.9.3. U.S. Patents for NIPTs by Company
      • 8.9.3.1. Selected Issued Patents of NIPTs
      • 8.9.3.2. Assignees of Major U.S. Patents and their Current Licensees
    • 8.9.4. Global Availability of NIPTs
    • 8.9.5. Cost Effectiveness of NIPTs
    • 8.9.6. Clinical Implementation Strategies to be adopted for NIPTs
    • 8.9.7. Integration of NIPT into Healthcare System: Patient-Directed Model
  • 8.10. Tandem Mass Spectrometry (MS/MS) in Newborn Screening
  • 8.11. Fetal Ultrasound in Prenatal Screening
    • 8.11.1. Types of Fetal Ultrasound Exams
    • 8.11.2. Best Obstetric and Gynecological Ultrasound Systems in the Market
    • 8.11.3. Best Premium Fetal Ultrasound Machines
      • 8.11.3.1. Philips Epiq
      • 8.11.3.2. GE Voluson E
      • 8.11.3.3. GE Voluson E
      • 8.11.3.4. Samsung UGEO WS80A
    • 8.11.4. High-End Systems
      • 8.11.4.1. Philips Epiq
      • 8.11.4.2. Philips Affinity
      • 8.11.4.3. GE Voluson E
      • 8.11.4.4. GE Voluson S
    • 8.11.5. Midrange Systems
      • 8.11.5.1. Philips Affinity
      • 8.11.5.2. GE Voluson S
      • 8.11.5.3. Samsung AccuVix A
      • 8.11.5.4. Philips Clear Vue
    • 8.11.6. Economy Systems
      • 8.11.6.1. Philips Clear Vue
      • 8.11.6.2. GE Logiq P
      • 8.11.6.3. Samsung H
      • 8.11.6.4. Alpinion Ecube
    • 8.11.7. Portable Systems
      • 8.11.7.1. GE Voluson
      • 8.11.7.2. Samsung UGEO HM70A
  • 8.12. Therapeutic Genome Editing: A Breakthrough Technology
    • 8.12.1. Genome Editing Technologies
      • 8.12.1.1. Growing Popularity of CRISPR Kits
    • 8.12.2. Therapeutic Applications of Genome Editing
    • 8.12.3. The First Genetically Modified Human Embryos

9.0. Market Analysis

  • 9.1. Preconception/Carrier Screen Market Analysis
    • 9.1.1. Major Players in the Preconception/Carrier Testing Market
    • 9.1.2. Market Size of Multi-Panel and Expanded Screening Market
  • 9.2. Prenatal Screening and Diagnostics: Market Overview
  • 9.1. Global Market for Fetal Ultrasound
    • 9.1.1. Market Leaders in Fetal Ultrasound
  • 9.2. Global Market for Prenatal MRI Screening
  • 9.3. Global Market for Maternal Serum Screening Tests
  • 9.4. Global Market for Noninvasive Prenatal Tests (NIPTs) using cffDNA
    • 9.4.1. Global Market for NIPTs by Product
  • 9.5. Global Market for Prenatal Diagnostic Invasive Tests
  • 9.6. Global Market for Newborn Screening for Genetic Diseases
    • 9.6.1. Newborn Screening Market by Technology
  • 9.7. Global Market for Preimplantation Screening/Diagnosis (PGS/PGD)

10.0. Other Genetic Testing-Related Markets

  • 10.1. Emerging Trends in Molecular Diagnostics Market
  • 10.2. Emerging Trends in Liquid Biopsy Market
  • 10.3. Emerging Trends in Personalized Medicine Diagnostics Market
  • 10.4. Emerging Trends in in vitro Diagnostics (IVD) Market

11.0. Market SWOT and Strategy Analysis

  • 11.1. Acquisition Activities in Prenatal Screening Industry
    • 11.1.1. Acquisition of BlueGenome by Illumina
    • 11.1.2. Illumina's Acquisition of Verinata
    • 11.1.3. Eurofin's Joint Venture with Emory Genetics Laboratory
    • 11.1.4. Roche's Acquisition of Ariosa Diagnostics
    • 11.1.5. Cooper Surgical's Acquisition of Reprogenetics
  • 11.2. Market Drivers
  • 11.3. Market Restraints
  • 11.4. Future of Prenatal Screening
  • 11.5. Legislation Mandating Newborn Screening by Geography
    • 11.5.1. Newborn Screening Programs in Americas
    • 11.5.2. Newborn Screening Programs in Asia/Pacific
    • 11.5.3. Newborn Screening Programs in Europe
  • 11.5.4. Newborn Screening Programs in Middle East and Northern Africa
  • 11.6. Ethical Voices against Problamatic Applications of NIPT and NIPD
  • 11.7. Clinical Implemention of NIPTs
    • 11.7.1. Implementation of NIPTs in Developed Countries
    • 11.7.3. Implementation of NIPTs in Developing and Under-Developed Countries
  • 11.8. Adoption Rates for Different Prenatal Tests in the U.S.

12.0. Company Profiles

  • 12.1. 23andMe Inc.
    • 12.1.1. 23andMe's Agreement with Pfizer
    • 12.1.2. 23andMe's Agreement with Genentech
    • 12.1.3. FDA's Approval for 23andMe's Screening Test for Bloom Syndrome
  • 12.2. Abbott Laboratories
    • 12.2.1. ARCHITECT AFP Assay
  • 12.3. Abbott Molecular Inc.
    • 12.3.1. AneuVysion
    • 12.3.2. Cystic Fibrosis Genotyping Assay
  • 12.4. Abcam plc
    • 12.4.1. hCG Human ELISA Kit
  • 12.5. AB Sciex LLC
  • 12.6. Adaltis S.r.l
    • 12.6.1. CLIAgen Free Beta-hCG Kit
  • 12.7. Adaptive Biotechnologies Corp.
    • 12.7.1. ImmunoSEQ Platform
    • 12.7.2. ClonoSEQ
    • 12.7.3. Pipeline
      • 12.7.3.1. Quantifying Tumor Infiltration Lymphocytes in Solid Tumors
      • 12.7.3.2. Measuring Immune Reconstitution Post Transplant
      • 12.7.3.3. Diagnosing Cutaneous T-Cell Lymphoma (CTCL)
      • 12.7.3.4. Therapeutics
  • 12.8. Affymetrix Inc.
    • 12.8.1. Microarray Solutions
    • 12.8.2. Affymetrix's Collaborating Partners
    • 12.8.3. Affymetrix's R&D Investment
  • 12.9. Agena Biosciences Inc.
    • 12.9.1. MassARRAY System
    • 12.9.2. Acquisition of Sequenom's Bioscience Business by Agena Biosciences
  • 12.10. Agilent Technologies Inc.
    • 12.10.1. SureScan Microarray Scanner
    • 12.10.2. OneSeq
  • 12.11. Ambry Genetics Corp.
    • 12.11.1. Clinical Diagnostic Tests
  • 12.12. Analogic Corp.
    • 12.12.1. Flex Focus
    • 12.12.1. SonixTouchQ+
    • 12.12.3. SonixSP Q+
  • 12.13. Ariosa Diagnostics Inc.
    • 12.13.1. Harmony Test
    • 12.13.2. Granting of Licenses to Harmony Test
  • 12.14. Ansh Labs
    • 12.14.1. picoPAPP-A ELISA Kit
    • 12.14.2. Inhibin A ELISA Kit
  • 12.15. Appistry Inc.
    • 12.15.1. GenomePilot
    • 11.15.2. Ayrris for NGS Analysis
    • 12.15.3. Variant Annotation and Analysis Suite
    • 12.15.4. CloudDx Translational
    • 12.15.5. CloudDx Clinical
    • 12.15.6. Appistry's Partnership with LifeMap Sciences
  • 12.16. ARUP Laboratories
    • 12.16.1. Prenatal Screening and Diagnosis
    • 12.16.2. Next-Generation Sequencing (NGS)
    • 12.16.3. Noninvasive Prenatal Test for Aneuploids
  • 12.17. AssureRx Health Inc.
    • 12.17.1. GeneSight Psychotropic
    • 12.17.2. GeneSight Analgesic
    • 12.17.3. GeneSight ADHD
    • 12.17.4. GeneSight MTHFR
  • 12.18. Asuragen Inc.
    • 12.18.1. AmplideX FMR1 PCR
    • 12.18.2. AmplideX FMR1 mPCR
    • 12.18.3. AmplideX Controls
    • 12.18.4. Quantidex Pan Cancer Kit
    • 12.18.5. Quantidex BCR/ABL1 Quant Kit
    • 12.18.6. Quantidex DNA Assay
    • 12.18.7. Signature Technology
    • 12.18.8. Signature KRAS Mutations
    • 12.18.9. Signature BRAF Mutations
    • 12.18.10. Signature LTx v2.
    • 12.18.11. Signature NPM1 Mutations
  • 12.19. Athena Diagnostics Inc.
  • 12.20. AutoGenomics Inc.
    • 12.20.1. INFINITI System
  • 12.21. Base4 Innovation Ltd.
    • 12.21.1. Microdroplet Sequencing
  • 12.22. Beckman Coulter Inc.
    • 12.22.1. SPRIworks System I for Illumina Genome Analyzer
    • 12.22.2. SPRIworks HT for Illumina NGS Platform
    • 12.22.3. SPRIselect Reagent Kit
    • 12.22.4. Automated Sample Preparation
    • 12.22.5. Genomic Services
    • 12.22.6. Access Total Beta-hCG Reagent
    • 12.22.7. Access Inhibin A Assay
  • 12.23. erry Genomics Co., Ltd.
    • 12.23.1. Bambni Test
    • 12.23.2. Berry's Partnership with Illumina
  • 12.24. Bina Technologies Inc.
    • 12.24.1. Bina RAVE
    • 12.24.2. Bina AAiM
    • 12.24.3. Bina's Collaboration with AsraZeneca
  • 12.25. Bio-Rad (Israel) Laboratories Inc.
  • 12.26. BGI
  • 12.27. Blueprint Genetics Oy
    • 12.27.1. Services
  • 12.28. Boreal Genomics Inc.
    • 12.28.1. OnTarget Mutation Detection System
    • 12.28.2. Aurora Platform
  • 12.29. Cambridge Epigenetix Ltd.
    • 12.29.1. TrueMethyl Seq Kit
    • 12.29.2. TrueMethyl Array
  • 12.30. Caris Lifesciences
    • 12.30.1. ADAPT Biotargeting System
    • 12.30.2. Caris Molecular Intelligence
    • 12.30.3. Collaboration between Caris Lifesciences and Syapse
  • 12.31. CeGaT GmbH
    • 12.31.1. NGS Service
    • 12.31.2. ADME Research Panel
    • 12.31.3. Forschungsexom
  • 12.32. Centogene AG
  • 12.33. Chromsystems Instruments & Chemicals GmbH
  • 12.34. Chronix Biomedical Inc.
    • 12.34.1. Technology
  • 12.35. Claritas Genomics Inc.
  • 12.36. CLC bio A/S
    • 12.36.1. Products
  • 12.37. Combimatrix Corp.
    • 12.37.1. CombiSNP Array for Prenatal Diagnosis
    • 12.37.2. CombiPGS
  • 12.38. Contec Medical Systems Co., Ltd.
    • 12.38.1. CMS600P B-Ultrasound Diagnostic System
    • 12.38.2. CMS600B3 B-Ultrasound Diagnostic System
  • 12.39. Coriell Life Sciences Inc.
    • 12.39.1. GeneDose
  • 12.40. Correlagen Diagnostics Inc.
  • 12.41. Counsyl Inc.
    • 12.41.1. Family Prep Screen
    • 12.41.2. Informed Pregnancy Screen
    • 12.41.3. Inherited Cancer Screen
  • 12.42. Courtagen Life Sciences Inc.
  • 12.43. Creative Diagnostics
    • 12.43.1. Alpha-Fetoprotein, AFP ELISA Kit
    • 12.43.2. hCG ELISA Kit
    • 12.43.3. Human Free Estriol ELISA Kit
  • 12.44. Cynvenio Biosystems Inc.
    • 12.44.1. LiquidBiopsy
    • 12.44.2. ClearID
    • 12.44.3. Thermo Fisher's Distribution Agreement with Crynvenio
    • 12.44.4. Cynvenio's Collaboration with the University of Southern Denmark
  • 12.45. Diagnostic Automation/Cortez Diagnostics Inc.
  • 12.46. Demeditec Diagnostics GmbH
    • 12.46.1. Estriol, Free/Uncojugated ELISA
  • 12.47. DRG International Inc.
    • 12.47.1. DRG PAPP-A ELISA
  • 12.48. DNA Electronics Ltd.
    • 12.48.1. Genalysis
  • 12.49. DNA Link Inc.
    • 12.49.1. Services
    • 12.49.2. Partnership between Affymetrix and DNA Link Inc.
    • 12.49.3. DNAGPS
    • 12.49.4. AccuID
  • 12.50. DNAnexus Inc.
    • 12.50.1. Adoption of DNAnexus' Cloud Genomics Platform by Natera
  • 12.51. Eagle Biosciences Inc.
    • 12.51.1. Alport Syndrome Kit
    • 12.51.2. Free Beta-hCG ELISA
  • 12.52. Eagle Genomics Ltd.
    • 12.52.1. EagleCore
    • 12.52.2. EagleNsembl
  • 12.53. Enzymatics Inc.
    • 12.53.1. Reagents
  • 12.53.2. SPARK DNA Sample Preparation Kit
    • 12.54. Esoate SpA
    • 12.54.1. MyLabGamma
    • 12.54.2. MyLab GOLD Platform
    • 12.54.3. MyLab
    • 12.54.4. MyLab
    • 12.54.5. MyLab 25Gold
  • 12.55. Eurofins MWG Operon Inc.
    • 12.55.1. Products and Services
  • 12.56. Exiqon A/S
    • 12.56.1. Products and Services
  • 12.57. Fakuda Denshi Co., Ltd.
    • 12.57.1. UF-400AX
    • 12.57.2. UF-550XTD
    • 12.57.3. UF-760AG
    • 12.57.4. UF-870AG
  • 12.58. GATC Biotech AG
    • 12.58.1. Sanger Sequencing
  • 12.59. GE Healthcare Ltd.
    • 12.59.1. VScan
    • 12.59.2. VScan with Dual Probe
    • 12.59.3. Logiq P
    • 12.59.4. Logiq P
    • 12.59.5. GE Venue
    • 12.59.6. GE Venue
    • 12.59.7. Logiq S
    • 12.59.8. Logiq E
  • 12.60. GenapSys Inc.
    • 12.60.1. GENIUS
  • 12.61. Gene by Gene Ltd.
  • 12.62. Genection Inc.
  • 12.63. GeneDx Inc.
    • 12.63.1. Cytogenetics and Biochemical Tests
    • 12.63.2. Deletion/Duplication Analysis
    • 12.63.3. Carrier Mutation-Specific Testing
  • 12.64. GenePeeks Inc.
    • 12.64.1. Matchright Technology
  • 12.65. Genesis Genetics
    • 12.65.1. GeniSeq24
    • 12.65.2. UltraPGD
    • 12.65.3. ArrayCGH
  • 12.66. Genetadi Biotech S.L.
    • 12.66.1. AMNIOCHIP..
    • 12.66.2. FERTICHIP
    • 12.66.3. PRENATAL GENE
  • 12.67. Genoma Group Srl
  • 12.68. Genomed AG
    • 12.68.1. Aneufast
  • 12.69. GenPath Diagnostics
    • 12.69.1. InheriGen, InheriGen Plus and InheriGen Tx
    • 12.69.2. Prenatal Tests
  • 12.70. Genway Biotech Inc.
  • 12.71. Good Start Genetics Inc.
    • 12.71.1. EmbryVu
  • 12.72. Hitachi Medical Systems America Inc.
    • 12.72.1. Arietta
    • 12.72.2. ProSound Alpha
    • 12.72.3. Noblus
    • 12.72.4. ProSound F
  • 12.73. Hologic Inc.
    • 12.73.1. InPlex CF Molecular Test
    • 12.73.2. Rapid fFN Test
  • 12.74. Illumina Inc.
    • 12.74.1. The Verifi Prenatal Test
  • 12.75. INEX Innovations Exchange Pte Ltd.
    • 12.75.1. iGene
    • 12.75.2. FlashFISH
    • 12.75.3. INEX's Collaborative Agreement with BGI
  • 12.76. Invitae Corp.
  • 12.77. Laboratory Corporation of America Inc.
    • 12.77.1. Services
  • 12.78. LifeCodexx AG
    • 12.78.1. Prena Test
  • 12.79. Monobind Inc.
    • 12.79.1. Fertility VAST Panel: HCG, FSH, LH, SPRL
    • 12.79.2. PAPP-A Test
  • 12.80. Multiplicom NV
    • 12.80.1. Clarigo
  • 12.81. Myriad Genetics
  • 12.82. Natera Inc.
    • 12.82.1. Panorama Prenatal Screen
      • 12.82.1.1. Accuracy of Panorama Test
      • 12.82.1.2. Minimal False Negatives in Panorama
    • 12.82.2. Horizon Carrier Screening
    • 12.82.3. Spectrum Preimplantation Test
    • 12.82.4. Natera's 24-chromosome PGS
    • 12.82.5. Anora Miscarriage Test
    • 12.82.6. Prenatal Paternity Test
    • 12.82.7. Agreement between Natera and LifeLabs
  • 12.83. Natus Medical Inc.
    • 12.83.1. ABaer
    • 12.83.2. Algo
    • 12.83.3. Algo 3i
    • 12.83.4. AuDX
    • 12.83.5. Echo-Screen III
  • 12.84. NewGene Ltd.
    • 12.84.1. Hereditary Disorders
    • 12.84.2. Alport Syndrome
    • 12.84.3. Aortopathy Panel
    • 12.84.4. RASopathy Gene Panel
    • 12.84.5. Familial Hypercholesterolaemia
  • 12.85. NIPD Genetics Ltd.
    • 12.85.1. VERACITY Test (NIPT)
  • 12.86. Oxford Gene Technology (OGT)
    • 12.86.1. SureSeq NGS Library Preparation Kit
    • 12.86.2. CytoSure Embryo Screen Array
    • 12.86.3. Cytocell FISH Probes
    • 12.86.4. CytoSure Embryo Screen Array
    • 12.86.5. CytoSure Aneuploidy Array
    • 12.86.6. CytoSure Chromosome X Arrays
  • 12.87. Parabase Genomics Inc.
    • 12.87.1. NewbornDx Test
  • 12.88. Pathway Genomics Corp.
    • 12.88.1. Carrier Screening
  • 12.89. PerkinElmer Life and Analytical Sciences Inc.
    • 12.89.1. DELFIA Xpress PIGF Assay
    • 12.89.2. DELFIA Xpress PAPP-A Kit
    • 12.89.3. AutoDELFIA PAPP-A Kit
    • 12.89.4. StepOne Newborn Screens
  • 12.90. Premaitha Health PLC
    • 12.90.1. IONA Test
    • 12.90.2. Premaitha's Investment Agreement with Thermo Fisher
  • 12.91. Progenity Inc.
    • 12.91.1. nxtPanel Test
    • 12.91.2. Verifi Test
    • 12.91.3. Acquisition of Carmenta Bioscience by Progenity
  • 12.92. Qiagen N.V.
    • 12.92.1. Next-Generation Sequencing (NGS)
    • 12.92.2. Target Enrichment Solutions
    • 12.92.3. Library Construction
  • 12.93. Quest Diagnostics Inc.
    • 12.93.1. QNatal Advanced
    • 12.93.2. Inhibin A
  • 12.94. Ravgen Inc.
    • 12.94.1. Prenatal Downs Syndrome Testing
    • 12.94.2. Single Gene Disorder Testing
  • 12.95. Recombine Inc.
    • 12.95.1. CarrierMap
  • 12.96. Reproductive Genetics Institute Inc.
  • 12.97. Reprogenetics Laboratories
    • 12.97.1. Array CGH (aCGH)
    • 12.97.2. Single Gene Disorder Testing
    • 12.97.3. WaferGen Biosystems' Supply Agreement with Reprogenetics
  • 12.98. Sebia Inc.
  • 12.99. Sequenom Inc.
    • 12.99.1. MaterniT GENOME Test
      • 12.99.1.1. Sensitivity and Specificity of MaterniT GENOME Test
    • 12.99.2. MaterniT21 PLUS
      • 12.99.2.1. Sensitivity and Specificity of MaterniT21 PLUS
    • 12.99.3. HerediT UNIVERSAL Carrier Screen
    • 12.99.4. VisibiliT Prenatal Test
    • 12.99.5. HerediT Cystic Fibrosis Carrier Screen
      • 12.99.5.1. Clinical Data for HerediT
    • 12.99.6. SensiGene Fetal RHD Genotyping
    • 12.99.7. NextView Prenatal Diagnostic Tests
  • 12.100. SeraCare Life Sciences Inc.
    • 12.100.1. Seraseq Trisomy 21 Aneuploidy Reference Material
  • 12.101. Siemens Healthcare
    • 12.101.1. Acuson S
    • 12.101.2. Acuson X
    • 11.101.3. Acuson X
    • 12.101.4. Acuson X300 PE
    • 12.101.5. Acuson X
    • 12.101.6. Acuson Antares
    • 12.101.7. Acuson P
  • 12.102. Sophia Genetics SA
    • 12.102.1. Clinical Genomic Modules
  • 12.103. SpOtOn Clinical Diagnostics Ltd.
    • 12.103.1. Newborn Screening
    • 12.103.2. Ante-Natal Testing
  • 12.104. Stra Biotech GmbH
  • 12.105. Sygnis AG
    • 12.105.1. TruePrime Single Cell WGA Kit
    • 12.105.2. TruePrime WGA Kit
    • 12.105.3. TruePrime RCA Kit
    • 12.105.4. SunScript Reverse Transcriptase RNaseH+ and RNaseH- Kits
    • 12.105.5. SensiPhi/QualiPhi
  • 12.106. SynapDx Corporation
    • 12.106.1. ASD Diagnosis
    • 12.107.1. Thermo Fisher's Brands
  • 12.108. Transgenomic Inc.
    • 12.108.1. Technology Suite
    • 12.108.2. MX-ICP Technology
    • 12.108.3. ICEme Kit
    • 12.108.4. Other Products
  • 12.109. Trivitron Healthcare Private Ltd.
  • 12.110. Trovagene Inc.
    • 12.110.1. PCM BRAF V600E Mutation Detection Test
    • 12.110.2. PCM KRAS Mutation Detection Test
    • 12.110.3. PCR EGFR Mutation Detection Test
    • 12.110.4. HPV HR Detection Test
  • 12.111. Tute Genomics Inc.
    • 12.111.1. Tute Platform
  • 12.112. Warp Drive Bio LLC
    • 12.112.1. Wrap's New Approach
    • 12.112.2. Chemomemes
    • 12.112.3. Genomic Search Engine
  • 12.113. ZS Genetics Inc.
    • 12.113.1. 3G Sequencing
  • 12.114. Zymo Research Corporation
    • 12.114.1. DNA Methylation Products
      • 12.114.1.1. Bisulfite Conversion
      • 12.114.1.2. Methylated DNA Standards
      • 12.114.1.3. DNA Methyltransferases
      • 12.114.1.4. 5-mC ELISA
      • 12.114.1.5. 5-mC Antibodies and Immunoprecipitation
      • 11.114.1.6. Region-Specific DNA Methylation Analysis
      • 12.114.1.7. Global 5-mC Quantification
      • 12.114.1.8. Genome-wide 5-mC Analysis
    • 12.114.2. DNA Purification Products
      • 12.114.2.1. DNA Clean-up
      • 12.114.2.2. Plasmid DNA Purification
      • 12.114.2.3. Genomic DNA
      • 12.114.2.4. Microbial and Environmental DNA Isolation
      • 12.114.2.5. DNA/RNA Co-Purification
      • 12.114.2.6. Sample Collection and Stabilization
      • 12.114.2.7. DNA Ladders
      • 12.114.2.8. Enzymes
      • 12.114.2.9. High-Throughput/Automated Isolation
      • 12.114.2.10. DNA Analysis Kits
    • 12.114.3. Other Products

APPENDIX

  • Appendix 1: Representative Companies in Prenatal and Maternal Diagnostics and their Products
  • Appendix 2: Sources for Tables and Graphs

INDEX OF FIGURES

  • Figure 1.1: Summary of Prenatal Screening, Prenatal Diagnosis, Newborn Screening and PGS/PGD Markets, Through 2021
  • Figure 2.1: Risk of Down Syndrome and Chromosomal Abnormalities Due to AMA
  • Figure 2.2: Maternal Age and Pregnancy Loss Rate
  • Figure 2.3: Risk of Cesarean Section with Increasing AMA
  • Figure 2.4: Risk of Gestational Diabetes with AMA
  • Figure 2.5: Risk of Placenta Previa with AMA
  • Figure 2.6: Delayed First Pregnancy in the U.S.
  • Figure 2.7: First Birth Rates for 35-39 Aged U.S. Women by Race
  • Figure 2.8: Pre-Existing Chronic Diseases among Women of Reproductive Ages in the U.S.
  • Figure 2.9: Chronic Disease Risk Behaviors and Risk Factors among Women of Reproductive Ages in the U.S.
  • Figure 2.10: Prevalence of Preeclampsia during Pregnancy by Race/Ethnicity in the U.S.
  • Figure 2.11: Prevalence of Preeclampsia by Maternal Age in the U.S.
  • Figure 2.12: Prevalence of Gestational Diabetes by Maternal Age in the U.S.
  • Figure 2.13: Prevalence of Gestational Diabetes by Maternal Race/Ethnicity in the U.S.
  • Figure 2.14: Causes of Preterm Labor
  • Figure 2.15: Prevalence of Preterm Births in the U.S. by Stage
  • Figure 2.16: Prevalence of Preterm Births in the U.S. by Race/Ethnicity
  • Figure 2.17: Prevalence of Preterm Births in the U.S. by Plurality of Birth
  • Figure 2.18: Prevalence of Preterm Births in the U.S. by Maternal Age
  • Figure 2.19: Prevalence of Multiple Births in the U.S.
  • Figure 3.1: Inheritance of Autosomal Dominant Faulty Gene When One Parent is a Carrier
  • Figure 3.2: Inheritance of Autosomal Dominant Faulty Gene When Both Parents are Carriers
  • Figure 3.3: Percent of Patients taking Sweat Chloride Test Reported in the U.S. Registry
  • Figure 3.4: Age at CF Diagnosis for all People Reported in the U.S. Registry, 2013
  • Figure 3.5: Distribution of Race/Ethnicity among People with CS in the U.S., 2013
  • Figure 3.6: Percent of New CF Diagnosis in U.S. Newborn Screenings, 1990-2013
  • Figure 3.7: The Six Most Common CFTR Mutations in the U.S.
  • Figure 3.8: Autosomal Recessive Inheritance when Both Parents are Carriers
  • Figure 3.9: Autosomal Recessive Inheritance with Carrier Mother and Non-Carrier Fath
  • Figure 3.10: Autosomal Recessive Inheritance from Homozygous Recessive Mother and Carrier Father78
  • Figure 3.11: Autosomal Recessive Inheritance from Two Affected Parents
  • Figure 3.12: Inheritance Pattern of Sex-Linked Dominant Disorder with Affected Mother and Carrier Father
  • Figure 3.13: X-Linked Recessive Inheritance with a Carrier Mother and Non-Carrier Father
  • Figure 3.14: X-Linked Recessive Inheritance with Normal Mother and Affected Father
  • Figure 3.15: Incidence of Down Syndrome by Maternal Age in the U.S.
  • Figure 3.16: Prevalence of Trisomies in the U.S.
  • Figure 3.17: Relative Frequencies of Chromosomal Anomalies in Spontaneous Abortions
  • Figure 3.18: Maternal Age and Chromosomal Aneuploidy Detected at Amniocentesis
  • Figure 5.1: Genetic Disorders (%) Detectable by Prenatal Testing Methods
  • Figure 5.2: Nuchal Translucency as Seen in an Ultrasound Scan
  • Figure 5.3: The Amniocentesis Procedure
  • Figure 5.4: Chorionic Villus Sampling Procedure
  • Figure 5.5: Transvaginal CVS Procedure
  • Figure 5.6: Decline in Number of Amniocentesis at Yale New Haven Hospital and Bridgeport Hospital in the U.S. between 2011 and 2013
  • Figure 5.6: Scheme for Isolating Intact Fetal Cells for Prenatal Genetic Diagnosis
  • Figure 6.1: Number of Newborn Genetic Diseases Screened in Selected Countries
  • Figure 6.2: The Top Four Countries with Homocystinuria Population (per 100,000)
  • Figure 7.1: Indications for PGD
  • Figure 8.1: Markings on the Test Strip
  • Figure 8.2: Procedure of β-hCG Test
  • Figure 8.3: Interpretation of β-hCG Test Result
  • Figure 8.4: Fetal Karyotype Showing Trisomy 21 (Down Syndrome)
  • Figure 8.5: Pek Heights Indicating Aneuploidy in QF-PCR Study
  • Figure 8.6: Diagrammatic Representation of Steps Involved in FISH Test
  • Figure 8.7: FISH Test Showing Chromosomal Deletion
  • Figure 8.8: Steps Involved in Array-CGH
  • Figure 8.9: History of Innovations in NIPTs from 2011-2015
  • Figure 8.10: Detection Rate of Harmony Test Compared with Traditional Maternal Serum Tests
  • Figure 8.11: Global Availability of NIPTs
  • Figure 8.12: Preference of NIPTs by Pregnant Women at Santa Clara Valley Medical Center
  • Figure 8.13: Patient-Directed Model of Integrating NIPTs into Healthcare Setting
  • Figure 8.14: Growing Popularity of CRISPR-Cas9 Kits
  • Figure 9.1: Global Carrier Screen Test Market 2015-2020
  • Figure 9.2: Geographical Breakdown of Carrier Screen Test Market, USA, EU, RoW 2015-2020
  • Figure 9.3: Ultrasound Imaging Market Share (%) by Clinical Application
  • Figure 9.4: Global Market for Fetal Ultrasound Screenong by Geography (U.S., Europe, RoW), Through 2021
  • Figure 9.5: Global Fetal Ultrasound Market Share by Company, 2014
  • Figure 9.6: Global Market for MRI Prenatal Screening by Geography (U.S., Europe, RoW), Through 2021
  • Figure 9.7: Global Market for Maternal Serum Screening Tests by Geography (U.S., Europe, RoW), Through 2021
  • Figure 9.8: Share of NIPTs Market by Geography (North America, Europe, RoW)
  • Figure 9.9: Global Market for NIPTs by Geography (North America, Europe, RoW), Through 2021
  • Figure 9.10: Global Market for NIPTs by Product
  • Figure 9.11: Global Market for Prenatal Invasive Diagnostic Tests by Geography (U.S., Europe, RoW), Through 2021
  • Figure 9.12: Global Market for Newborn Screening, Through 2021
  • Figure 9.13: Global Market for Newborn Screening by Technology, Through 2021
  • Figure 9.14: Global Market for MS/MS in Newborn Screening, Through 2021
  • Figure 9.15: Global Market for Pulse Oximetry in Newborn Screening, Through 2021
  • Figure 9.16: Global Market for Enzyme-Based Assays in Newborn Screening, Through 2021
  • Figure 9.17: Global Market for DNA Assays in Newborn Screening, Through 2021
  • Figure 9.18: Global Market for Electrophoresis in Newborn Screening, Through 2021
  • Figure 9.19: Geographical Share of PGS/PGD Market
  • Figure 9.20: Global Market for PGS/PGD by Geography (North America, Europe, RoW)
  • Figure 10.1: Global Market for Molecular Diagnostics, Through 2021
  • Figure 10.2: Global Market for Liquid Biopsy by Geography (North America, Europe, RoW), Through 2021
  • Table 10.3: Global Market for Personalized Medicine by Business Segment, Throgh 2021
  • Figure 10.4: Percent Share of IVD Market by Business Segments
  • Figure 10.5: Global IVD Market by Geography (North America, Europe, RoW), Through 2021
  • Figure 12.1: Comparison of False Negative Rates
  • Figure 12.2: Sensitivity and Specificity of MaterniT GENOME Test

INDEX OF TABLES

  • Table 1.1: Summary of Prenatal Screening, Prenatal Diagnosis, Newborn Screening and PGS/PGD Markets, Through 2021
  • Table 2.1: Risk of Down Syndrome and Chromosomal Abnormalities Due to AMA
  • Table 2.2: Maternal Age and Pregnancy Loss Rate
  • Table 2.3: Risk of Cesarean Section with Increasing AMA
  • Table 2.4: Risk of Gestational Diabetes with AMA
  • Table 2.5: Risk of Placenta Previa with AMA
  • Table 2.6: Delayed Fist Pregnancy in the U.S.
  • Table 2.7: First Birth Rates for 35-39 Aged U.S. Women by Race
  • Table 2.8: Maternal and Fetal Concerns due to Pre-Existing Maternal Medical Issues
  • Table 2.9: Pregnancy Outcome in Women with Renal Diseases
  • Table 2.10: Pregnancy Outcome in Women with Pre-Existing Thyroid Disease
  • Table 2.11: Risks Associated with Obesity in Pregnant Women
  • Table 2.12: Pregnancy Complications in Asthmatic Women
  • Table 2.13: Pregnancy Complications and Neonatal Outcome in Women with Epilepsy
  • Table 2.14: Maternal and Fetal Complications in Women with Autoimmune Diseases
  • Table 2.15: Complications due to Hemoglobinopathies in Pregnancy
  • Table 2.16: Prevalence of Gestational Diabetes in the U.S.
  • Table 2.17: Countries with Higher and Lower Rates of Preterm Births
  • Table 2.18: Prevalence of Preterm Births in the U.S. by Stage
  • Table 2.19: Prevalence of Preterm Births in the U.S. by Race/Ethnicity
  • Table 2.20: Prevalence of Preterm Births in the U.S. by Plurality of Birth
  • Table 2.21: Prevalence of Preterm Births in the U.S. by Maternal Age
  • Table 2.22: Related Complications of Placenta Previa
  • Table 2.23: Mode of Delivery for Breech Presentation
  • Table 2.24: Perinatal Outcome due to Meconium Stained Liquor
  • Table 2.25: Pregnancy Outcome due to Polyhydramnios
  • Table 2.26: Causes of Fetal Growth Restriction
  • Table 2.27: Prevalence of Congenital Cardiovascular Diseases in the U.S.
  • Table 3.1: Worldwide Prevalence of Huntington Disease by Selected Country
  • Table 3.2: Prevalence of 25 Most Common CFTR Mutations in the U.S., 2013
  • Table 3.3: Molecular Diagnostic Tests for Canavan Disease
  • Table 3.4: Incidence of Sickle Cell Disease in the U.S.
  • Table 3.5: Red Blood Cell Indices in Beta-Thalassaemia
  • Table 3.6: Molecular Genetic Tests for Beta-Thalassaemia
  • Table 3.7: Chances of Inheriting a Single Gene Disorder
  • Table 3.8: More Common Recessive Disease Traits in Selected Ethnic Groups
  • Table 3.9: A Comprehensive List of Genetic Disorders
  • Table 3.10: Turnaround Time and Average Cost for Hemophilia Genetic Tests
  • Table 3.11: Incidence of Chromosomal Abnormalities
  • Table 3.12: Karyotypes Commonly Associated with Klinefelter Syndrome
  • Table 3.13: Features of Turner Syndrome in Different Age Groups
  • Table 3.14: Some Complications of Trisomy 21 (Down Syndrome)
  • Table 3.15: Incidence of Down Syndrome by Maternal Age
  • Table 3.16: Developmental Delay in Children with Down Syndrome
  • Table 3.17: Frequently Observed Anomalies in Babies with Trisomy 18
  • Table 3.18: Common Clinical Features of Trisomy 13
  • Table 3.19: Congenital Anomalies Associated with Triploidy
  • Table 3.20: Relative Frequencies of Different Chromosomal Anomalies in Spontaneous Abortions
  • Table 3.21: Maternal Age-Related Frequencies of Aneuploid Fetuses Detected Prenatally
  • Table 3.22: Clinical Features of Common Chromosomal Aneuploidy
  • Table 3.23: Maternal Age and Chromosomal Aneuploidy
  • Table 3.24: Sensitivity and Specificity of Maternal Serum and Ultrasound Tests for Aneuploids
  • Table 3.25: Common Autosomal Deletions, Resulting Syndromes and Clinical Features
  • Table 3.26: Common Autosomal Microdeletion Syndromes
  • Table 3.27: Commonly Encountered Problems in Prader-Willi Syndrome
  • Table 3.28: Tests for Prader-Willi Syndrome
  • Table 3.29: Molecular Genetic Tests for CATCH 22 Syndrome
  • Table 3.30: Autosomal Duplication Syndromes
  • Table 3.31: Molecular Genetic Tests for Beckwith-Wiedemann Syndrome
  • Table 3.32: Molecular Diagnostic Tests for CMT1A
  • Table 4.1: Genetic Counseling Services by DTC GT Companies
  • Table 4.2: A List of Genetic Counseling Companies and Their Websites
  • Table 5.1: Major Prenatal Screening Tests during the First and Second Trimesters
  • Table 5.2: Other Routine and Non-Routine Prenatal Screening Tests
  • Table 5.3: hCG Levels from Date of Conception to 40th Week
  • Table 5.4: Selected β-hCG Kits and Manufacturers
  • Table 5.5: Selected PAPP-A Kits and Manufacturers
  • Table 5.6: Selected MSAFP Test Kits and Manufacturers
  • Table 5.7: Selected uE3 Test Kits and Manufacturers
  • Table 5.8: Selected Inhibin-A Test Kits and Manufacturers
  • Table 5.9: Selected Hexosaminidase Test Kits and Manufacturers
  • Table 5.10: Comparison of the Four Maternal Serum Screening Analyte Patterns
  • Table 5.11: The Five Popular Commercially Available Noninvasive Prenatal Tests (NIPTs)
  • Table 5.12: Sensitivity and Specificity of NIPTs
  • Table 5.13: Diagnostic Applications of cffDNA
  • Table 5.14: Time of Availability of cffDNA in Maternal Blood
  • Table 5.15: The Costs of NIPTs by Region/Country
  • Table 5.16: Costs of NIPTs by Product in the U.S.
  • Table 5.17: History of Aneuploidy Screening
  • Table 5.18: NIPT Methods for Detecting Aneuploidy
  • Table 5.19: Comparison of Amniocentesis and NIPTs
  • Table 5.20: Advantages and Disadvantages of NIPTs
  • Table 5.21: Comparison of Performance Criteria for Commonly Used Prenatal Tests
  • Table 5.22: Comparison of NIPT Detection Rates with Traditional Tests
  • Table 5.23: False Positive Rates of NIPTs Compared with those of Traditional Tests
  • Table 5.24: Different Applications of Ultrasound in Different Trimesters
  • Table 5.25: MRI Indications for Prenatal Screening when Ultrasound Screening is Inadequate
  • Table 5.26: Prenatal Diagnostic Tests by Pregnancy Stage
  • Table 5.27: Comparison of CVS and Amniocentesis
  • Table 5.28: Advantages and Disadvantages of Prenatal Diagnostic Tests
  • Table 5.29: Comparison of Prenatal Tests using Cell-Free Fetal DNA (cffDNA) and Intact Fetal Cells from Maternal Blood
  • Table 6.1: Thirty One Core Conditions Detected During Newborn Screening
  • Table 6.2: Categories of Newborn Genetic Disorders
  • Table 6.3: Metabolic Genetic Disorders Detectable by MS/MS and their Scores
  • Table 6.4: Incidence of PKU by Region
  • Table 6.5: Molecular Genetic Tests for Biotidinase Deficiency
  • Table 7.1: Number of Genetic Disease States with Carrier Status
  • Table 7.2: Carrier Risk of Most Common Genetic Diseases by Ethnic Group
  • Table 7.3: Select Commercially Available Genetic Assays for Carrier Screening by Company and Diseases Detected
  • Table 7.4: Advantages and Disadvantages of Currently Available PGS/PGD Technologies
  • Table 7.5: Genetic Diseases Detected During PGS/PGD
  • Table 7.6: Currently Available Products for PGS/PGD
  • Table 7.7: Cost of in vitro Fertilization and Related Procedures
  • Table 8.1: Karyotype vs. Microarray
  • Table 8.2: The Format of FISH Test Result
  • Table 8.3: Some Commonly Used FISH-Based Tests
  • Table 8.4: Microdeletions/Microduplications Detectable by FISH
  • Table 8.5: FISH Probes and Functions
  • Table 8.6: Presentation Format of Array-CGH Test Report
  • Table 8.7: Harmony vs. Traditional Down Syndrome Tests
  • Table 8.8: Predictive Value, Sensitivity and Specificity of InformaSeq Test
  • Table 8.9: Detection Rates of Panorama Test
  • Table 8.10: NIFTY Test Options
  • Table 8.11: Clinical Data for IONA Test
  • Table 8.12: Sensitivity and Specificity of Verifi Test
  • Table 8.13: Sensitivity and Specificity of Verifi's Microdeletion Panel
  • Table 8.14: Comparison of MaterniT GENOME Test and Karyotype
  • Table 8.15: Sensitivity and Specificity of MaterniT GENOME Test
  • Table 8.16: MaterniT21 PLUS' Independent Validation
  • Table 8.17: The Three Panels Offered by HeridiT UNIVERSAL Carrier Screen
  • Table 8.18: Comparison of the Four Major NIPT Products available in the U.S. Market
  • Table 8.19: U.S. Patents for NIPTs by Company
  • Table 8.20: Selected Issued Patents of NIPTs
  • Table 8.21: Major U.S. Patents and Applications
  • Table 8.22: Countries in Which NIPT is currently Marketed
  • Table 8.23: Detection, Uptake, False Positive and Failure Rates for NIPTs
  • Table 8.24: Cost of Different Prenatal Screens
  • Table 8.25: Disease Types Targeted by Different Nuclease Platforms
  • Table 9.1: Global Carrier Screen Test Market 2015-2020 US$ Million
  • Table 9.2: Geographical Carrier Screen Test Market 2015-2020 US$ Millions, USA, EU, RoW
  • Table 9.3: Global Market for Fetal Ultrasound Screenong by Geography (U.S., Europe, RoW), Through 2021
  • Table 9.4: Global Fetal Ultrasound Market Share by Company, 2014
  • Table 9.5: Global Market for MRI Prenatal Screening by Geography (U.S., Europe and RoW), Through 2021
  • Table 9.6: Global Market for Maternal Serum Screening Tests by Geography (U.S., Europe, RoW), Through 2021
  • Table 9.7: Global Market for NIPTs by Geography (North America, Europe, RoW), Through 2021
  • Table 9.8: Global Market for NIPTs by Product
  • Table 9.9: Global Market for Prenatal Invasive Diagnostic Tests by Geography (U.S., Europe, RoW), Through 2021
  • Table 9.10:Global Market for Newborn Screening by Technology, Through 2021
  • Table 9.11:Global Market for PGS/PGD by Geography (North America, Europe, RoW), Through 2021
  • Table 10.1: Global Market for Liquid Biopsy by Region (North America, Europe, RoW), Through 2021
  • Table 10.2: Global Market for Personalized Medicine by Business Segment, Throgh 2021
  • Table 10.3: Global IVD Market by Geography (North America, Europe, RoW), Through 2021
  • Table 11.1 Adoption Rates for Different Prenatal Tests in the U.S.
  • Table 12.1: Financial Data for Affymetrix
  • Table 12.2: Selected Financial Data for Agilent Technologies
  • Table 12.3: Comparison of Harmony and Other Traditional Tests
  • Table 12.4: CombiSNP Prenatal Targeted Array Disorder List
  • Table 12.5: Genetic Tests Offered by Correlagen by Gene and Disease
  • Table 12.6: GeneDx's Cytogenetics and Biochemical Tests
  • Table 12.7: Hologic's Financial Data
  • Table 12.8: Performance of Verifi Test
  • Table 12.9: Verifi Prenatal Test Lab Partners in the U.S.
  • Table 12.10: Illumina's Financial Data
  • Table 12.11: Comparison of Prenatal Test Performance
  • Table 12.12: Comparison of False Negative Rates
  • Table 12.13: A Small Sample of Diseases Screened by Horizon Test
  • Table 12.14: Natus Medical's Financial Data
  • Table 12.15: Clinical Data for IONA Test
  • Table 12.16: Sensitivity and Specificity of MaterniT GENOME Test
  • Table 12.17: Sequenom's Financial Data
  • Table 12.18: Sensitivity and Specificity of MaterniT21 PLUS Test
  • Table 12.19: Three Options Offered by HeridiT UNIVERSAL Carrier Screen
  • Table 12.20: Clinical Evaluation Performance of VisibiliT Prenatal Test
  • Table 12.21: CF Detection Rates for Standard and Expanded Panels
  • Table 12.22: Accuracy, Sensitivity and Specificity of SensiGene Fetal RHD
  • Table 12.23: NextView Diagnostic Test Platforms
  • Table 12.24: Trovogene's Financial Data
  • Table Ap. 1.1: Participating Companies and their Products and Services
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