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1
Intro
2
Amniocentesis
3
CHORIONIC VILLUS SAMPLING
4
TRANSCERVICAL CVS
5
TRANSABDOMINAL CVS
6
Risk of amnio vs. CVS
7
ACOG American College at OBGYN Recommendations
8
What We Tell Patients
9
First Trimester Screening
10
First trimester screen procedure
11
One day can throw it all off!
12
Detection Rate
13
False Negatives
14
State Serum-ONLY Integrated Screen
15
Quad Marker Screen
16
Short Long Bones
17
Choroid Plexus Cyst
18
Cell free fetal DNA
19
Analysis of fetal DNA
20
Massively Parallel Shotgun Sequencing (MPSS)
21
Spectrum of Genetic Disease
22
The Disadvantages of NIPT
23
How Does Test Performance Differ with Risk?
24
Professional Society Opinions: ACOG; ACMG; Interational Society of Prenatal Diagnosis; National Society of Genetic Counselors
25
Prenatal CMA with Ultrasound Abnormalities
26
Should CMA Replace Karyotyping as the Primary Prenatal Diagnostic Test ?
27
Ethical issues
28
Choices 2013
Description:
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.

Dr. Jane Chueh on Prenatal Screening and Diagnosis

Stanford University
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