Course : MOC Part IV: Prenatal Genetic Screening for Fetal Aneuploidy
Both the American Congress of Obstetrics and Gynecology and the American College of Medical Genetics and Genomics recommend that all obstetric patients should be offered evaluation for fetal aneuploidy regardless of maternal age prior to 20 weeks gestation. This may be accomplished either through diagnostic testing by chorionic villus sampling or amniocentesis, or through screening programs involving maternal serum screening analytes, DNA fragments, and ultrasound. This module focuses on genetic screening for aneuploidy. Screening options include first trimester screening, triple, quad, penta screening, non-invasive prenatal screening (NIPS), and ultrasound. Some screening exams are done in both the first and second trimester including integrated, sequential, and contingent screening. These various protocols for screening yield different detection and false positive rates. Women should be counseled to understand the difference between diagnostic and screening tests to make an informed personal choice.
ACMG Members and ACMG Trainees ($25)