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Expanded NIPT: Expanded Screening – Extensive Insights, Earlier Planning
You’re invited to join Illumina at the upcoming ISPD 2022 event. NIPT gives you valuable information about the chromosomal status of the fetus as early as 10 weeks’ gestation.1,2 Newer tests take advantage of next-generation sequencing (NGS) to bring a whole-genome sequencing (WGS) approach to NIPT, expanding test options beyond chromosomes 21, 18, and 13 to include rare autosomal aneuploidies (RAAs), sex chromosome aneuploidies (SCAs), and partial deletions and duplications, also referred to as copy number variations (CNVs), ≥7 Mb in size. Traditional, targeted tests do not screen for these additional chromosomal abnormalities, which have been associated with clinically relevant outcomes such as developmental delays, intellectual disabilities, structural anomalies, and adverse pregnancy outcomes.3,4 The VeriSeq™ NIPT Solution v2 combines low failure rates, highly accurate results, and low false-positive rates for chromosomes 21, 18 and 13, making it one of the most reliable NIPT screens available.5 You can test as early as 10 weeks’ gestation, so you’ll get results early in the pregnancy. Come to the Illumina Booth to learn more and attend our sponsored session.
Spotlight Theatre Talk: Theater #2
“Leveraging expanded NIPT results: discussion on various clinical care pathways”
Tuesday, June 21st, 12:00 – 1:30pm
Cell-free DNA (cfDNA) screening, originally introduced clinically as a screening tool for common fetal aneuploidies, is expanding. As more is learned about cfDNA in maternal blood, the ability to screen for an increasing number of fetal conditions, such as rare autosomal aneuploidies (RAAs), is now possible with genome-wide cfDNA screening. In addition to a risk for fetal aneuploidy, RAA-positive NIPT results can be associated with confined placental mosaicism (CPM), which in turn has been associated with an increased risk for adverse pregnancy outcomes, such as intrauterine growth restriction, preterm birth, and fetal demise.
This session will explore differing viewpoints about how best to integrate expanded cfDNA screening into the clinical care pathway, including points related to:
- Influence of the specific chromosome involved on reporting
- Follow-up Interaction of ultrasound
- Expanded NIPT pregnancy management following normal results on diagnostic testing.
Speakers
Toni Borrell, MD - Spain
Toni Borrell is currently working at the Prenatal Genetic Diagnosis Unit Department of BCNatal- Hospital Clinic of Barcelona and he is Full Professor in Obstetrics and Gynecology at the University of Barcelona Medical School. He studied Medicine at the University of Barcelona (Catalonia, Spain) and obtained a Ph.D. degree in Medicine at the same University in 1995. His PhD project was focused on ultrasound markers for aneuploidy was supervised by Prof. A. Fortuny. Toni Borrell was accredited with the Advanced Research Accreditation issued by the Agency for the Quality of the University System of Catalonia (AQU) and the Accreditation of Full University Professors (ANECA). He has been Chair of the group of special interest on Fetal Imaging, Chair of Education and Treasurer of the International Society for Prenatal Diagnosis (ISPD), and Vice President of the Education Committee of the European Association of Perinatal Medicine (EAPM). He has been president of the Fetal Medicine and Ultrasound section of the Catalan Society of Obstetrics and Gynecology. Currently, he is the President of Fetoscopy Working group and the Chair of the Quality Review committee on First-trimester ultrasound of the Catalan Health Agency. He has coordinated the writing of 2 clinical guidelines of new genetic technologies, on circulating free fetal DNA and on microarrays chromosomal, and has participated in 3 international guides of the ISPD on free DNA circulating (PMID: 21604286; 23616385; 25970088). He has received training in Medical Genetics taking the Advanced Medical Genetics Course at Harvard Medical School (Boston, MA) (2008-2009) and the 50th Annual Course in Medical and Experimental Genetics of Mammals organized by Johns Hopkins University and the Jackson Laboratory in Maine, USA. It has currently generated an h index of 30 (Scopus).
Tom Westover, MD - United States
- Associate Professor MFM and Obgyn
- Cooper Medical School, Rowan University
- Chair, New Jersey section ACOG
- Co-Chair, NJ Hospital Association Statewide Perinatal Safety Collaborative
- President NJ Obgyn Society
- Chief MFM and Perinatal Genetics, Capital Health System Trenton NJ
- Member, NJ Dept of Health Maternal Mortality and Fetal Mortality Review Committee
- ACOG District 3 McCain Advocacy Fellow
Tamara Mossfield, Associate Genetic Counselor - Australia
Since completing a Master of Genetic Counselling through the University of Sydney in 2016, Tamara has worked in private, public, and education sectors in Australia and abroad (Oxford, UK). Tamara has extensive clinical experience working in familial cancer, neurogenetics, and prenatal genetics services, with a specialty in pre-conception genetic counseling and issues related to expanded cell-free DNA screening. Through her role as a Genetic Counsellor for Genea, Tamara has developed a special interest in rare autosomal aneuploidies, mosaicism and other complex genetic abnormalities screened through Preimplantation genetic testing and NIPT. Tamara is an active member of The Human Genetics Society of Australasia and Australian Society of Genetic Counsellors. As part of her ongoing involvement with the Illumina International Expanded NIPT consortium, Tamara is currently collaborating on important research examining pregnancy outcomes in cases with rare autosomal aneuploidy results reported NIPT.
References
- Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012;119(5):890-901.
- Bianchi DW, Parker RL, Wentworth J, et al; for CARE Study Group. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799-808
- Pertile MD, Halks-Miller M, Flowers N, et al. Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. Sci Transl Med. 2017;9(405).
- Shaffer LG, Rosenfeld JA, Dabell MP, et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn. 2012;32(10):986-995.
- Data on file, Illumina, Inc 2019
For In Vitro Diagnostic Use
- Date & Time
- Jun 19, 2022 – Jun 23, 2022
- Location
- Virtual | In-person: Palais des Congrès de Montréal (Montreal Convention Centre)
Booth 203
Montreal, Quebec - Canada
- North America
- Topic
- Complex disease genomics, Genetic & rare diseases