C14 Prenatal Diagnosis

Introduction

Historical perspective

Screening for aneuploidy

Statistical considerations

Traditional aneuploidy screening tests

Cell-free DNA screening

Sonogoraphic screening

Carrier screening for genetic disorders

Cystic fibrosis

Spinal muscular atrophy

Sickle hemoglobinopathies

Thalassemias

Tay-Sachs disease

Prenatal diagnostic procedures and preimplantation testing

Amniocentesis

Chorionic villus sampling

Fetal blood sampling

Preimplantation genetic testing

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