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Presentation at a Grand Round, King Abdullah Medical City held at Makkah AlMukarramah, Saudi Arabia on 11 April 2017 by Professor Omar Hasan Kasule Sr. MB ChB (MUK). MPH (Harvard), DrPH (Harvard) Chairman of the Ethics Committee King Fahad Medical City.
Learning objectives
- To familiarize students with the ethical and legal aspects of prenatal diagnosis
- To identify practical issues of prenatal diagnosis
Ethico-legal issues in pre-natal procedures
- Full disclosure
- Autonomy and informed consent:
- Justice
- Privacy and confidentiality
- Pregnancy termination
- Issues relating to the testing procedure
- Other issues
Issues related to the test
- Performance characteristics of the test: sensitivity, specificity. Safety. False-positive and false-negative
- Funding: cost-effective to screen DS and neural tube defects together[1]
- Perceived disability burden versus procedural risk. Risk of abortion from amniocentesis.
- Anxiety in women undergoing DS screening[2]
- DS screening related miscarriage is 13 per 100,000[3]
- Counseling before and after the procedure. The time between counseling and the procedure. Discuss the impact of results.
Case studies on DS
- Case #1: A 38-year old mother with one live delivery of a Down syndrome baby is pregnant for the second time. The husband insists on a pre-natal diagnosis but she refuses.
- Case #2:A 40-year old gynecologist recently married and became pregnant. Her husband insists on prenatal diagnosis but she refuses.
- Case #3: 35-year old mother of 2 previous normal children asks for amniocentesis to discover if the baby is normal. The director of the health clinic refuses fearing she may consider abortion. the health clinic refuses fearing she may consider abortion.
- Case #4: Down syndrome society petitioned the Ministry of Health to make down syndrome screening mandatory for pregnant women aged 30 and above.
- Case #5: A doctor obtained consent to do Down screening in a 45- year old pregnant woman. When she came for the results he refused to disclose because nurses had told him she had talked about aborting abnormal fetii while in the waiting room.
Case studies on Thalassemia
- Case #1: Two first cousins wanted to marry. The geneticist told them that they were both carriers and 1 in every 4 children would get the disease. They went ahead and married because a proportion of 25% was too low a risk.
- Case #2: A 4-year old child had repeated episodes of anemia that responded to transfusion. The doctors without getting parental permission carried out and found a positive test for thalassemia disease. Problems occurred in the family because both parents had results of pre-marital testing that showed that neither was a carrier of thalassemia.
Notes:
- [1] Community Genet. 2008;11(6):359-67.
- [2] PrenatDiagn. 2008 May;28(5):417-21.
- [3] Community Genet. 2008;11(6):359-67.