1. COUNSELLING FOR FETAL ABNORMALITIES Tina-Marié Wessels Counselling subdivision Division Human Genetics University of the Witwatersrand and the National Health Laboratory Service PO Box 1038, Johannesburg, 2000 Tel: (011) 489-9243 Fax: (011) 489-9226 E-Mail: tina.wessels@nhls.ac.zatina.wessels@nhls.ac.za

2. ULTRASOUND MARKERS  Nuchal translucency  Nuchal fold  Echogenic bowel  Short femurs  Echogenic focus  Choroid plexis cyst  Hydronephrosis

3. ANORMALITIES DETECTED ON ULTRASOUND  Skeletal dysplasia  Cardiac abnormalities  Multiple congenital abnormalities

4. AFTER INVASIVE PROCEDURES Chromosomal disorders  Tri 21, 13, 18  Turner  Other

5. AFTER INVASIVE PROCEDURES Single gene disorders  Cystic Fibrosis  Haemophilia  SMA  Fragile X syndrome

6. DEFINITION Genetic counselling is a communication and education process which deals with the human problems associated with the occurrence, or the risk of occurrence of a genetic disorder in a family. This process involves an attempt by appropriately trained persons to help the individuals or family to:

7. DEFINITION (1)comprehend the medical facts, including the diagnosis, probable course and available management (2)appreciate the genetics and risk of recurrence (3)Understand the options for dealing with the risk of recurrence (4)choose an appropriate course of action and act upon the choice and (5)make the best possible adjustment

8. ETHICS Acceptance Confidentiality Purposeful expression of feelings Individualization Controlled emotional involvement Client self-determination Non-judgmental attitude ETHICS

9. EMOTIONAL ASPECTS Emotional responses to pregnancy  Psychobiologic crisis  New emotional and adjustive tasks  Pre-pregnancy personality and coping  Early pregnancy - narcissistic concerns  Later in pregnancy – awareness of the fetus

10. EMOTIONAL ASPECTS Mother infant relationship  Fetal personification  Fetal heartbeat  Ultrasound  Fetal sex  Quickening

11. EMOTIONAL ASPECTS Grief reactions  Denial  Anger  Bargaining  Depression  Acceptance Denial Anger Bargaining Depression Acceptance

12. COUNSELLOR’S ROLE Medical facts  Diagnosis and prognosis ultrasound and invasive test results  Explain degree of uncertainty prognosis

13. COUNSELLOR’S ROLE Present options  Diagnostic procedures CVS, amniocentesis, fetal blood sampling CVS, amniocentesis, fetal blood sampling  Termination of pregnancy

14. COUNSELLOR’S ROLE Course of action  Assist in decision making Anticipatory guidance Anticipatory guidance  Informed consent

15. COUNSELLOR’S ROLE Emotional adjustment  Minimize quilt and shame shame  Emotional and cognitive groundwork cognitive groundwork  Recognizing and understanding grief understanding grief  Hope

16. COUNSELLOR’S ROLE Genetic information  Genetic aspects – family history  Recurrence risks – investigations ChromosomesChromosomes Clinical examClinical exam BabygramBabygram PMPM I I III IV

17. DECISION MAKING Characteristics  Compulsion  Reality  Anticipation  Responsibility  Desire for children  Interpretation of odds

18. DECISION MAKING Subjective interpretation of odds  Intelligence  Perceived general risk  Presentation of risks  Risky shift  Anticipated risk odds  Nature of outcome

19. “One gains knowledge when information is broken down and assimilated into the personality. Until this is done, information is like a a tool which is useless because the person does not know how to handle it. Learning is not simply a matter of acquiring information. The learned person knows how to apply this information to life, especially to his own life. He has related it to his feelings and has integrated it with his experiences.” A. Lowen 1970