Dr. Jane Chueh on Prenatal Screening and Diagnosis

Explore the latest advancements in prenatal genetic screening and diagnosis with Dr. Jane Chueh, Clinical Professor of Obstetrics & Gynecology at Stanford University. Delve into various screening methods, including amniocentesis, chorionic villus sampling, and non-invasive prenatal testing (NIPT). Understand the risks, benefits, and accuracy of different screening techniques, such as first trimester screening, quad marker screening, and cell-free fetal DNA analysis. Examine the ethical considerations and decision-making processes involved in prenatal testing, including the use of chromosomal microarray analysis (CMA) and its potential to replace traditional karyotyping. Gain insights into professional society recommendations and the evolving landscape of prenatal genetic screening as of 2013.

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