Essentials of Prenatal Diagnosis

Part 1 Background: genetic counselling; genetic screening. Part 2 Techniques for prenatal diagnosis: amniocentesis; chronic villus sampling; foetal blood sampling; skin and liver sampling; ultrasound diagnosis of foetal structural anomalies. Part 3 Laboratory techniques and indications: ultrasound diagnosis of foetal anomalies; cytogenetics - indications and accuracy; prenatal screening for Down syndrome; antenatal diagnosis of metabolic disorders; molecular disorders sensitivity and specificity; prenatal screening for the detection of neural tube defects; management of foetal abnormalities. Part 4 Management of foetal: foetal treatment; pregnancy termination procedures; management of multifoetal pregnancies discordant for foetal abnormalities; prenatal diagnosis of foetal abnormalities - psychological impact. Part 5 Future directions: prenatal diagnosis before implantation; prenatal diagnosis using foetal cells in maternal blood. Part 6 Ethical and legal issues: legal and ethical issues in genetic screening, prenatal diagnosis and gene therapy.