This course on Prenatal Genetic Screening and Diagnosis aims to educate participants on the importance of prenatal screening methods such as ultrasounds and blood tests in detecting possible birth defects. The course covers topics such as amniocentesis, chorionic villus sampling, noninvasive tests, and ethical considerations. Participants will learn about the different screening procedures, test performance, and professional society opinions in the field. The teaching method includes lectures and discussions led by a clinical professor specializing in Maternal Fetal Medicine. This course is intended for healthcare professionals, genetic counselors, obstetricians, gynecologists, and individuals interested in prenatal care and genetic testing.
Overview
Syllabus
Intro
Amniocentesis
CHORIONIC VILLUS SAMPLING
TRANSCERVICAL CVS
TRANSABDOMINAL CVS
Risk of amnio vs. CVS
ACOG American College at OBGYN Recommendations
What We Tell Patients
First Trimester Screening
First trimester screen procedure
One day can throw it all off!
Detection Rate
False Negatives
State Serum-ONLY Integrated Screen
Quad Marker Screen
Short Long Bones
Choroid Plexus Cyst
Cell free fetal DNA
Analysis of fetal DNA
Massively Parallel Shotgun Sequencing (MPSS)
Spectrum of Genetic Disease
The Disadvantages of NIPT
How Does Test Performance Differ with Risk?
Professional Society Opinions: ACOG; ACMG; Interational Society of Prenatal Diagnosis; National Society of Genetic Counselors
Prenatal CMA with Ultrasound Abnormalities
Should CMA Replace Karyotyping as the Primary Prenatal Diagnostic Test ?
Ethical issues
Choices 2013
Taught by
Stanford Health Care
