COUNSELLING FOR COUNSELLING FOR FETAL ABNORMALITIESFETAL ABNORMALITIESTina-Marié WesselsTina-Marié Wessels

Counselling subdivisionCounselling subdivisionDivision Human Genetics Division Human Genetics University of the Witwatersrand and the National Health University of the Witwatersrand and the National Health Laboratory ServiceLaboratory Service

PO Box 1038, Johannesburg, 2000Tel: (011) 489-9243Fax: (011) 489-9226E-Mail: tina.wessels@nhls.ac.za

ULTRASOUND MARKERSULTRASOUND MARKERS

Nuchal translucencyNuchal translucency

Nuchal foldNuchal fold Echogenic bowelEchogenic bowel Short femursShort femurs Echogenic focusEchogenic focus Choroid plexis cystChoroid plexis cyst HydronephrosisHydronephrosis

ANORMALITIES DETECTED ON ANORMALITIES DETECTED ON ULTRASOUNDULTRASOUND

Skeletal dysplasiaSkeletal dysplasia Cardiac abnormalitiesCardiac abnormalities Multiple congenital Multiple congenital

abnormalitiesabnormalities

AFTER INVASIVE PROCEDURESAFTER INVASIVE PROCEDURES

Chromosomal disordersChromosomal disorders

Tri 21, 13, 18Tri 21, 13, 18 TurnerTurner OtherOther

AFTER INVASIVE PROCEDURESAFTER INVASIVE PROCEDURES

Single gene disordersSingle gene disorders

Cystic FibrosisCystic Fibrosis HaemophiliaHaemophilia SMASMA Fragile X syndromeFragile X syndrome

DEFINITIONDEFINITION

Genetic counselling is a Genetic counselling is a communicationcommunication and and educationeducation process which deals with the process which deals with the

human problems associated with the human problems associated with the occurrenceoccurrence, or the risk of occurrence of a , or the risk of occurrence of a genetic disordergenetic disorder in a family. This process in a family. This process

involves an attempt by appropriately trained involves an attempt by appropriately trained persons to help the individuals or family to:persons to help the individuals or family to:

DEFINITIONDEFINITION

(1)(1) comprehend the comprehend the medicalmedical facts, including the facts, including the diagnosisdiagnosis, probable course and available , probable course and available managementmanagement

(2)(2) appreciate the appreciate the geneticsgenetics and risk of recurrence and risk of recurrence(3)(3) Understand the Understand the optionsoptions for dealing with the risk for dealing with the risk

of recurrenceof recurrence(4)(4) choose an appropriate choose an appropriate course of actioncourse of action and act and act

upon the choice andupon the choice and(5)(5) make the best possible make the best possible adjustmentadjustment

ETHICS

AcceptanceConfidentiality

Purposeful expression of feelings

Individualization

Controlledemotional involvement

Clientself-determination

Non-judgmental attitude

ETHICSETHICS

EMOTIONAL ASPECTSEMOTIONAL ASPECTS

Emotional responses to pregnancyEmotional responses to pregnancy

Psychobiologic crisisPsychobiologic crisisNew emotional and adjustive tasksNew emotional and adjustive tasksPre-pregnancy personality and copingPre-pregnancy personality and copingEarly pregnancy - narcissistic concernsEarly pregnancy - narcissistic concernsLater in pregnancy – awareness of the fetusLater in pregnancy – awareness of the fetus

EMOTIONAL ASPECTSEMOTIONAL ASPECTS

Mother infant relationshipMother infant relationship

Fetal personificationFetal personification Fetal heartbeatFetal heartbeat UltrasoundUltrasound Fetal sexFetal sex QuickeningQuickening

EMOTIONAL ASPECTSEMOTIONAL ASPECTS

Grief reactionsGrief reactions

DenialDenial Anger Anger BargainingBargaining DepressionDepression AcceptanceAcceptance

Denial

Depression

Acceptance

Anger

Bargaining

COUNSELLOR’S ROLECOUNSELLOR’S ROLE

Medical factsMedical facts

Diagnosis and prognosisDiagnosis and prognosis

ultrasound and invasive test resultsultrasound and invasive test results

Explain degree of uncertaintyExplain degree of uncertainty

prognosisprognosis

COUNSELLOR’S ROLECOUNSELLOR’S ROLE

Present optionsPresent options

Diagnostic proceduresDiagnostic procedures CVS, amniocentesis, fetal blood samplingCVS, amniocentesis, fetal blood sampling

Termination of pregnancyTermination of pregnancy

COUNSELLOR’S ROLECOUNSELLOR’S ROLE

Course of actionCourse of action

Assist in decision makingAssist in decision making

Anticipatory guidanceAnticipatory guidance

Informed consentInformed consent

COUNSELLOR’S ROLECOUNSELLOR’S ROLE

Emotional adjustmentEmotional adjustment

Minimize quilt andMinimize quilt and shameshame

Emotional andEmotional and cognitive groundworkcognitive groundwork

Recognizing andRecognizing and understanding griefunderstanding grief

HopeHope

COUNSELLOR’S ROLECOUNSELLOR’S ROLE

Genetic informationGenetic information

Genetic aspects – family historyGenetic aspects – family history Recurrence risks – investigationsRecurrence risks – investigations

• ChromosomesChromosomes• Clinical examClinical exam• BabygramBabygram• PMPM

I

II

III

IV

DECISION MAKINGDECISION MAKING

CharacteristicsCharacteristics CompulsionCompulsion RealityReality AnticipationAnticipation ResponsibilityResponsibility Desire for childrenDesire for children Interpretation of oddsInterpretation of odds

DECISION MAKINGDECISION MAKING

Subjective interpretation of oddsSubjective interpretation of odds

Intelligence Intelligence Perceived general riskPerceived general risk Presentation of risksPresentation of risks Risky shiftRisky shift Anticipated risk oddsAnticipated risk odds Nature of outcomeNature 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