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) Fax: (011)

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

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

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

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

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:

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

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

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

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

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

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

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

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

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

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

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

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

“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