080326L - PRE-NATAL and NEONATAL DIAGNOSIS and TREATMENT

Outline of lecture by Professor Omar Hasan Kasule Sr. for Year 2 Semester 2 PPSD Session on Wednesday 26^th March 2008

1.0 PRE-NATAL DIAGNOSIS

1.1 Reasons for pre-natal diagnosis

• Reassurance
• Desire for termination
• Preparation for abnormal birth (financially, psychologically)
• In utero treatment for example congenital adrenal hyperplasia

1.2 Methods of pre-natal diagnosis

• Amniocentesis (Amniocentesis is feasible after week 16)
• Chorionic villi sampling
• Percutaneous umbilical cord sampling
• Ultrasonography
• CT and MRI.

2.0 PRE-NATAL SCREENING

2.1 Reasons for pre-natal screening

• Routine pre-natal identification of at-risk pregnancies
• Early detection of congenital anomalies

2.2 Methods of pre-natal screening

• Family history
• Serum screening
• Molecular tests
• Ultrasound

3.0 PRE-NATAL GENETIC TESTING

3.1 Target groups

• History of congenital anomalies
• Family history
• Identification from screening

3.2 Methods of obtaining samples

• Amniocentesis
• Chorionic villi sampling

4.0 TYPES OF PRE-NATAL TREATMENT

• Intrautetine fetal transfusion
• Intra-uterine surgery
• Intrauterine drug treatment of cardiac aryhtmias and thyroid disorders

5.0 ETHICO-LEGAL ISSUES IN PRE-NATAL PROCEDURES

5.1 Full disclosure and informed consent

5.2 Counseling before and after the procedure

5.3 Slippery slope to abortion, eugenics, and genocide

5.4 Performance characteristics of the test: sensitivity, specificity

5.5 In case of parental disagreement whose view is taken?

5.6 Testing motivated by sex selection or looking for desires features in the baby

6.0 ROUTINE NEONATAL SCREENING

6.1 Diseases screened for

• PKU
• Cystic fibrosis ?
• Sickle cell disease?
• Muscular dystrophies?

6.2 Ethico-legal issues

• Informed consent
• Benefits vs risks
• Detection of carriers – treatment not urgently needed but worries introduced.