Prenatal DiagnosisDiana W. Bianchi, M.D.
	Case Scenarios
	Objectives of Prenatal Diagnosis
	Techniques of Prenatal Diagnosis
	Prenatal Sonography
	What is the Nuchal Translucency?
	Prenatal Diagnosis 2005: Slide 7
	Techniques of Prenatal Diagnosis
	Maternal Serum Screening
	Serum Screening Markers (MoMs in Down Syndrome Pregnancies)
	Screening for Fetal Down Syndrome:Current USA Standard of Care
	Screening for Fetal Down Syndrome:Results of the FASTER trial(N Engl J Med 2005;353:2001-2011)
	Techniques of Prenatal Diagnosis
	Fetal Cells in Maternal Blood for Aneuploidy Diagnosis
	Fetal Cells and DNA Are In Maternal Blood
	Techniques of Prenatal Diagnosis
	Amniocentesis
	Techniques of Prenatal Diagnosis
	Advantages of CVS over Amniocentesis
	Disadvantages of CVS
	CDC Recommendations for CVS Counseling 7/95
	Techniques of Prenatal Diagnosis
	What is Preimplantation Genetic Diagnosis (PGD)?
	Preimplantation Genetic Diagnosis
	Preimplantation Genetic Diagnosis
	Uses of PGD
	Uses of PGD, cont.
	Prenatal Diagnosis=Opportunity for Fetal Rx
	Patients Used to Go Directly to the Web
	The Future

• Non-Mendelian Genetics Part 1
• Legal and Ethical Issues in Genetics
• Non-Mendelian Genetics Part 2
• Human Genome and Genome Mapping
• Introduction to Cytogenetics