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Prenatal Genetics Owen Phillips, MD Reproductive Genetics
Objectives: Predicting fetal health as it pertains to genetic issues ,[object Object],[object Object]
3% of all babies- major congenital anomaly. ,[object Object],[object Object],[object Object],[object Object],[object Object]
Patient (Reproductive) History ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Risk Factors for Offspring with a Chromosome Abnormality ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Counseling ,[object Object],[object Object],[object Object]
 
Amniocentesis ,[object Object],[object Object],[object Object],[object Object]
Amniocentesis
 
First-trimester Prenatal Diagnosis ,[object Object],[object Object],[object Object],[object Object]
CVS Transcervical
CVS Transabdominal
 
Summary of CVS ,[object Object],[object Object],[object Object],[object Object]
Screening for chromosome abnormalities ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
 
Autosomal Dominant Disorders ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Autosomal Recessive Disorders ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
X-Linked Recessive Diseases ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Family history of single gene defects ,[object Object],[object Object],[object Object]
Physician’s Concerns ,[object Object],[object Object],[object Object],[object Object],[object Object]
Ethnic background ,[object Object],[object Object],[object Object],[object Object]
Ashkenazic Jewish Heritage ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Other Ethnicities ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
The Future is Here ,[object Object],[object Object],[object Object],[object Object]
Microarray testing for 63 genetic disorders using 1755 unique probes
Drawbacks ,[object Object],[object Object],[object Object],[object Object]
Ultrasound to diagnose genetic disorders ,[object Object]
Ultrasound is a genetic screening tool  ,[object Object],[object Object]
 
 
Drugs and Chemicals ,[object Object],[object Object]
Teratogenic agents ,[object Object],[object Object],[object Object],[object Object]

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