Release Date: Oct 2017
CC: PC, MK, PBL
Nicole L. Hoppman, PhD
Co-Director, Cytogenetics and Clinical Genome Sequencing Laboratories, Mayo Clinic, Rochester, MN
Prenatal screening using cell-free DNA (cfDNA) has been rapidly adapted by the obstetrics community as a screening test for various chromosomal trisomies such as Trisomy 21 (Down syndrome). This methodology also allows screening for other chromosomal anomalies, including sex chromosome abnormalities and some chromosomal microdeletion syndromes. This assay screens for chromosomal abnormalities by analyzing cell-free DNA derived from the placenta that is found in the maternal serum. Various analysis methods (counting of next-generation sequencing reads, microarray, etc.) can be utilized. The American College of Obstetricians and Gynecologists (ACOG) currently recommends cfDNA prenatal screening as the recommended option for high risk pregnancies (advanced maternal age, previous pregnancy diagnosed with a trisomy, etc.). This recommendation comes in part because of the increased sensitivity and specificity that cfDNA prenatal screening offers over other screening assays such as the first trimester or quad screens. To date, several laboratories, including Mayo Clinic, have developed cfDNA screening assays. The intricacies of the validation for this type of complex screening assay will be discussed.
After attending this session, participants will be able to:
· Understand how prenatal screening using cell-free DNA works and the different methodologies used to perform this screen.
· Understand how prenatal screening using cell-free DNA differs from alternative screens.
· Appreciate the nuances of validating a lab-developed cell-free DNA screening assay.
Who should attend? Practicing Pathologists, Residents, Doctoral Scientists, Bench Supervisors, Bench Technologists & Technicians, Students