Reproductive & Genetic Health Resources
RGH Resources List
A discussion with Larry Platt, MD about NIPT for all pregnancies
Noninvasive prenatal testing (NIPT) helps reduce the need for invasive procedures
Advantages of Next-generation Sequencing
Listen as Francesco Fiorentino discusses the high-throughput, high-resolution advantages of NGS.
Advantages of NGS for IVF clinics
Dagan Wells describes how high-throughput, next-generation sequencing for PGS to detect aneuploid embryos is a game changer for IVF clinics and labs.
A Genetic Counseling Video to Help Educate Your Patients
Know your options in prenatal testing with an educational video on NIPT.
Dr. Stuart Cook: Expert insights on the TruSight Cardio Sequencing Kit
Dr. Stuart Cook explains how targeted analysis with the TruSight Cardio Sequencing Kit can uncover inherited cardiac conditions.
Introduction to the MiSeqDx Cystic Fibrosis System
Learn about the MiSeqDX Cystic Fibrosis System in this quick tutorial
Viafet Genomics Center: On the Forefront of Genetic Screening
Dr. Ali Hellani discusses his passion to help couples undergoing IVF by providing them with reliable genetic screening technologies.
The Illumina Difference
Key opinion leaders in the fields of preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD) discuss how partnering with Illumina has positively impacted families around the world.
Statistics of Cell Free DNA Screening
Maternal fetal medicine specialist Dr. Tracy Prosen highlights the differences between screening and diagnostic prenatal tests.
Implications of Test Failures: A Webinar with Professor Yuval Yaron
Professor Yuval Yaron discusses the implications of test failures.
Discover the NextSeq 550–flexible sequencing and array power
Learn how the NextSeq 550 is enhancing research in reproductive and genetic health and why it’s being rapidly adopted in genetic testing labs. Get a glimpse into the advantages of this integrated, cost-effective solution for diverse applications.
VeriSeq Preimplantation Genetic Screening (PGS) with BlueFuse | Illumina Video
Innovative BlueFuse Multi Software
Vy and Kyle B: A preimplantation genetic screening (PGS) patient success story | Illumina Video
Childhood sweethearts, now husband and wife, Vy and Kyle share their personal in vitro fertilization success story. You ll hear how Illumina preimplantation genetic screening (PGS) helped them fulfill…
Preimplantation Genetic Screening—delivering more happy beginnings | Illumina Video
Dr. Robert Anderson, Director of the Southern California Center for Reproductive Medicine and Medical Director for the Southern California Institute for Reproductive Sciences, discusses how preimplantation…
Dr. Angie Beltsos on the advantages of PGS for IVF practices | Illumina Video
Join Angie Beltsos, MD, as she explores the latest advancements in fertility. Topics include minimizing risk of hyperstimulation, optimizing health of the transferred embryo, and improving the odds…
Equipping the Next Generation of Embryologists | Illumina Video
Embryologists from all over the world gathered for the Global Embryology Summit, an exclusive event featuring hands-on instructor-led workshops designed by fellow embryologists to improve best practices…
Talia & Dan H. | A Noninvasive Prenatal Screening Patient Success Story
The couple reflects on the value of NIPT and its ability to provide couples like them with more accurate answers.
The basics of NIPT
A video for parents to be to learn more about noninvasive prenatal testing.
Lab Requirements: IVF Success With PGS
Dr. Robert Anderson shares how a lab achieves a high IVF success rate with PGS.
A Rapid PGD Solution for Single-Gene Disorders
Preimplantation genetic diagnosis can be used where there is a risk of severe genetic disorders being inherited from parents. Join Professor Alan Handyside and Alan Thornhill as they introduce the Illumina karyomapping solution.
Preimplantation Genetics: A 25-Year Perspective
Alan Handyside reviews the significant breakthroughs in preimplantation genetics since the first live birth following IVF with PGD.
Exploring the Benefits of Karyomapping Video
Dr. Alan Handyside discusses how selective implantation of euploid embryos can lead to increased pregnancy rates.
NGS improves IVF success with healthier embryo selection
Watch Dagan Wells discuss how PGS through NGS improves IVF success.
Screening All 24 Chromosomes with PGS: A Paradigm Shift
Hear Simon Fishel talk about screening all 24 chromosomes with PGS.
VeriSeq: Delivering Accurate and Rapid Results to the IVF Clinic
Simon Fishel shares how VeriSeq is built to handle high throughput demand with speed and accuracy.
Improving IVF Outcomes by Better Embryo Selection
Simon Fishel describes how preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD) enable selection of embryos free of chromosomal problems for transfer.
The PGS Sequencing Advantage
Listen as Tony Gordon shares his vision for better IVF clinical outcomes using NGS.
Reproductive & Genetic Health (RGH) Portfolio
Hear Tony Gordon discuss how the Illumina portfolio empowers reproductive health labs.
PGS advantages vs microscopic embryo selection
Dr. Robert Anderson discusses pregnancy rates achieved with PGS.
Reducing complication risks with single embryo transfer
Listen to Dr. Robert Anderson share the benefits of single embryo transfer enabled by PGS.
Pam and Eric C: A PGS Success Story
Pam and Eric share how transferring a single embryo with PGS helped them start a family while they balanced their busy lifestyles.
NGS for Cystic Fibrosis
To learn more about the benefits of an expanded CF screen, read “Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.” by PR Sosnay, et al.
Clinical Utility of SNP Genotyping
Discover the use of arrays to investigate individuals with intellectual disability, developmental delay, autism, and congenital abnormalities.
The Power of Positive Predictive Value
Read the blog post on positive predictive value and download the publication
Continuing Medical Education (CME)
"Illumina is committed to supporting independent medical education for women's healthcare providers. Click above to participate in a free CME activity about ""The Role of Noninvasive Prenatal Screening in Optimizing Fetal Outcomes"". "
DNA Sequencing versus Standard Prenatal Aneuploidy Screening
Prenatal testing with the use of cfDNA has significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than standard screening.
Publication: 85,000 NIPT Cases
Noninvasive prenatal testing in the general obstetric population.
NIPT EMEA Health Economics
Noninvasive prenatal screening (NIPT) was found cost-effective as first line screening for all pregnant women.
Introduction to NGS
An introduction to NGS technology and applications for labs.
ICC Infographic
See vital statistics around sudden cardiac arrest, one of the leading causes of non-traumatic fatality in the US.
MiSeqDx Cystic Fibrosis Brochure
Learn more about the MiSeqDx Cystic Fibrosis System.
Cytogenetics Expert Interview
Trilochan Sahoo, MD discusses the benefits of the CytoSNP-850K BeadChip array.
Cytogenetic Analysis: From Arrays to NGS
Drs. Koehler and Benet-Pages are using the Infinium CytoSNP-850K BeadChip and the TruSight Cancer Panel to analyze chromosomal abnormalities.
Gene List
View all 174 genes, related to 17 ICCs, detected by the TruSight Cardio Sequencing Kit.
Carrier Screening Patient Handout
Download the handout on the Importance of Carrier Screening
Don't Settle for Limited Data
Data shows Illumina next-generation sequencing is the NIPT technology of choice.
Clinical laboratory experience with noninvasive prenatal testing in twin gestations
A poster presentation from the 2015 Annual Meeting of the Society for Maternal- Fetal Medicine.
RGH Counseling Guide
"RGH Counseling Guide Booklet Learn about the latest PGS and NIPT tool with this informative booklet highlighting app features and a quick start guide.<sup>┼</sup><br><br> <sup>┼</sup> This RGH Counseling Guide is intended to offer health care providers basic information on genetic counseling and is for general educational purposes only. The guide is not intended to be used to substitute for the exercise of the health care provider’s professional judgment in providing professional services."
PGS Patient Brochure
Share this brochure with your patients to educate them about PGS and how it can improve IVF success rates.
IVF/NGS Primer
A brief, educational primer about next-generation sequencing for in vitro fertilization.
PGS/PGD Clinician Brochure
Learn how PGS and PGD solutions can produce accurate genomic information for optimized embryo selection and more informed decisions about reproductive options.
Buyer's Guide
For tips about how to choose the best sequencer and transform your lab, download the Buyer's Guide to Next-Generation Sequencing Systems.
Karyomapping Primer
Learn how karyomapping offers a rapid PGD solution for single-gene disorders.
Karyomapping Patient Brochure
Share this brochure with your patients to educate them about PGD.
Preimplantation Genetics Publications
An overview of recent publications featuring 24sure technology from Illumina.
Application of NGS technology in clinical PGS cycles
Learn how the application of NGS in clinical PGS cycles allows for identification and transfer of euploid embryos resulting in ongoing pregnancies.
Patient Counseling Guide for Reproductive Genetics
Visual aids for patient discussions about reproductive genetic concepts such as PGS and NIPT.
NGS Revolutionizes Reproductive Genomics
Viafet enables IVF clinics throughout the Middle East and Australia to provide fast, accurate, and efficient PGS services.
10× Higher Positive Predictive Value
Study published in NEJM finds Verifi Prenatal Test achieves 10×higher positive predictive value vs. current standard of care.
Verifi Prenatal Test Healthcare Professional Brochure
Download this guide for healthcare professionals on NIPT and the benefits of the Verifi prenatal test.
Verifi Prenatal Test Delivers Answers
Whole-genome noninvasive prenatal testing provides results when another test was inconclusive.
Verifi Prenatal Test brochure for HCPs
Learn more about the Verifi Prenatal Test—a reliable, easy, fast, noninvasive prenatal test.
Gaining Insight Into Genetic Disease
Learn how Dr Kenjiro Kosaki furthers his clinical research and expands the genetic analysis services he provides with TruSight One Sequencing Panel.
Rapid Whole-Genome Sequencing in Neonatal Intensive Care Units
Whole-genome sequencing can potentially broaden and foreshorten differential diagnosis, resulting in fewer empirical treatments and faster progression to genetic and prognostic counseling.
Identifying Causal Variants of Inherited Disease in Newborns: Dr Stephen Kingsmore
Learn how Dr Stephen Kingsmore aided in decoding the genomes of children being seen at Children’s Mercy Hospital.
Identifying Causal Variants of Cardiomyopathy: Dr Heidi Rehm
Hear from Dr Heidi Rehm and learn how she is identifying the causal variants of cardiomyopathy.
STAR Trial Overview
Learn about a randomized controlled trial comparing pregnancy rates following VeriSeq PGS versus standard morphology for elective single embryo transfer.
The clinical utility of NIPT │ A webinar with Dr. Palomaki
Dr. Glenn Palomaki shares his data and expert opinion on the clinical utility of NIPT in the general pregnancy population.
Don’t Settle for Failure
Learn how the Verifi Prenatal Test uses proven NGS technology to provide accurate NIPT results.
Pertile Publication Summary Postcard
Discovering rare chromosomal abnormalities using WGS-based NIPT.
Utilizing NIPT in a maternal-fetal medicine practice: Dr. Martin Chavez
Martin Chavez, MD, a maternal-fetal medicine specialist, discusses noninvasive prenatal testing.
An MFM's Perspective on NIPT
Dr. Chavez discusses the benefits of NIPT for prenatal screening of fetal chromosomal aneuploidies.
NIPT Health Economics
Noninvasive prenatal screening (NIPT) was found cost-effective as first line screening for all pregnant women.
Preimplantation Genetics Technology
An overview of recent publications featuring Illumina solutions for preimplantation genetics technology.
Educational Partnerships
Learn about our partnerships with professional societies and organizations—striving together to advance awareness of genetics and health.