Incredible technological advances in molecular diagnostics have enabled high resolution prenatal diagnosis. However, there has been widespread confusion as to the benefits and limitations of non-invasive prenatal screening (NIPS) as compared to diagnostic testing. NIPS has been expanded beyond detection of chromosomal abnormalities in a fetus and is increasingly used for sex chromosomal aneuploidies and microdeletions, but current methods often fail to identify multi-system developmental disorders. Our experience focusing on sequencing a panel of 30 genes for relatively common dominant disorders will be reviewed. When validated, such can herald a new beginning where detection of a comprehensive spectrum of aneuploidies, copy number variations and single gene disorders is within reach. However, the gap between the cutting edge of technology and provider understanding continues to widen - not narrow, and patients’ understanding of the difference between screening and diagnosis are similarly sub-optimal. Current reliance upon NIPS has led to an epidemic of abnormalities missed that could have been diagnosed using more expanded testing.
Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders using Circulating Cell-free Fetal DNA
Shashikant Kulkarni, PhD, FACMG, Baylor College of Medicine, Houston, TX, USA
Prenatal Diagnosis: The Next Generation
Mark Evans, MD, Comprehensive Genetics, New York, NY, USA
Objectives:
- Understand the process of development and validation of non-invasive prenatal diagnosis (NIPD) and understand the value of NIPD in identifying fetal dominant monogenic disorders through clinical case vignettes.
- Understand the multimodal improvements in capabilities for screening and diagnosis of genetic and congenital abnormalities.
- Understand the trade-offs of accepting a non-invasive screening test versus actual diagnostic testing, including missing thousands of abnormalities each year by foregoing diagnostic testing.
Duration: 1.00 hr
Recording Date: November 8, 2019
CME/CMLE credit: 1.00 hr
Last day to purchase course and CE claim credit: December 24, 2022
