genetic counseling in the prenatal settting

8/13/2019 Genetic Counseling in the Prenatal Settting

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Genetic Counseling

in the PrenatalSetting

Adapted from a presentation by:

Krista Redlinger-Grosse, Sc.M.

Prenatal Genetic Counselor

Johns Hopkins Hospital

Prenatal Diagnostic Center

Adapted for

Development of Young Children with Disabilities

#872.514 (61)

Carol Ann Heath


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Genetic Counseling

Definition

History: Models of Genetic Counseling Process

Profession

Prenatal Genetic Counseling Process

Indications

Prenatal Testing

Psychosocial Issues

Ethical Implications


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Genetic Counseling

How would you define genetic

counseling?

What experiences (if any) have

you had with genetic

counseling?


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Genetic Counseling: Definition

The genetic counselor is a health professional

who is academically and clinically prepared toprovide genetic services to individuals and

families seeking information about the

occurrence, of risk of occurrence, of a genetic

condition or birth defect. The genetic counselor

communicatesgenetic, medical, and technicalinformation in a comprehensive,

understandable, non-directive mannerwith

knowledge of an insight into the psychosocial

and ethno cultural experiencesimportant toeach client and family. The counselor provides

client-centered, supportive counseling

regarding the issues, concerns, and experiences

meaningful to the clients circumstances.

American Board of Genetic


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History: Models of Genetic

Counseling

Eugene Model (well born) Sheldon Reed (1947) coined term

Genetic Counseling

Bateson (1906)Study of hereditaryAdvising people about inherited traits

Eugenics Records Office at Cold SpringHarborCollected data and provided information to

affected families

Mandatory Sterilization of mentallydefective (1926)23 out of 48 United States


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Models

Medical/Preventive Model 1940s

Retreat from advisement with a focus on

prevention by offering risk information

Decision-Making Model

1950s Discovery of cytogenetics of

several chromosomal conditions

Emphasis on providing information in an

interactive process


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ModelsPsychotherapeutic Model

Provision of information alone is not

enough Focus on response and experiences

related to genetic conditions

FrameworkClient-centered therapyCarl Rogers

Non-directiveness


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Genetic Counseling Profession

Masters Training Programs 1971 Sarah Lawrence College

Currently 28 training Programs (USA)

National Society of GeneticCounselors

1979

American Board of Genetic Counseling Certification process - 1981


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Philosophy of Genetic ServicesVoluntary utilization

Equal Access

Client Education

Complete

disclosure of

Information

Nondirective

counseling

Attention toPsychosocial and

Affective

Dimensions in

counseling

Confidentiality


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Process of Genetic Counseling

Information Gathering

Family and Medical History

Risk Assessment

Actual risk vs. perceived risk

Information Giving

Educators

Psychosocial Counseling


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Genetic Counseling ContextsReproductive Issues**

Preconception counseling

Prenatal

Infertility

PediatricsNewborn Screening

Specialty Clinics

Adult-Onset conditionsSpecialty Clinics

Pre-symptomatic testing: Breast and Colon Cancer,

Huntingtons disease


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Prenatal Genetic Counseling


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Prenatal Genetic CounselingPreconception Counseling

Carrier Screening

Family history of genetic condition

Risks and Pregnancy Options

PregnancyAdvanced maternal Age

Abnormal Triples Screen- blood test

Family history of genetic conditionFetus at risk for ____

InfertilityGenetics of infertility

Risks of infertility treatments (ex: ICSI)


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Impact of Prenatal

Counseling/DiagnosisBonding (Klaus and Kennel, 1982)

Influence bond formation between mom

and babyPlanning the pregnancy

Confirmation and acceptance of thepregnancy

Acceptance of the baby as a separate person Timing of prenatal information

Pregnancy on hold until results oftesting (Rothman, 1986)- tentative pregnancy


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Prenatal diagnostic TechniquesAmniocentesis

Chorionic Villus

Sampling (CVS)

Ultrasound Maternal blood multiple

marker screening

Chromosomes

Enzymes

DNA Testing

AFP- protein made by liver

Chromosomes

Enzymes

DNA

Fetal Anatomy

Down syndrome, Neural Tube Defects,

trisomy 18


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Prenatal Diagnostic Techniques

Amniocentesis

Chorionic Villus Sampling

Maternal Serum Multiple Marker

Screening

Ultrasound


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INDICATIONS


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Advanced Maternal AgeDefinition: Women over the age of 35

Slightly increased risk for chromosome

condition Down syndrome- extra #21

Trisomy 13 and 18- extra 13 & 18 severe

Sex chromosome conditions

Offered: CVS or Amniocentesis andDetailed Ultrasound


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Advanced Maternal AgeAge Risks 17 wks(%) Live Birth (%)

33 0.5 0.3

35 0.8 0.5

37 1.2 0.7

39 1.9 1.2

41 3.0 2.0

43 5.0 3.1


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Abnormal Triple ScreenDeveloped in 70s (AFP) and early 80s

(Triple Screen)

Offered to all pregnant womenSCREENING TEST!!! 16-18 weeks

Down syndrome

Trisomy 18

Neural Tube Defects

Three markers: AFP, hCG, uE3

Offered: Ultrasound and/or amniocentesis


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Ultrasound findingMay/may not be associated with

chromosome condition or known

genetic conditionOffered: Amniocentesis (possibly CVS)


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Family history (previous

pregnancy)genetic condition

Known genetic condition in family

Single gene disorders

Autosomal Recessive and Autosomal

Dominant conditions, X-Linked conditions

Slide of inheritance

Examples: Cystic Fibrosis, Muscular

Dystrophy, Sickle Cell Anemia


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Family history cont.History of unknown condition

Previous child with developmental delay

and additional medical concerns but nodiagnosis

History of recurring miscarriages/infantdeaths

Offered: CVS/Amniocentesis (orPreimplantation Genetic Diagnosis(PGD)?)


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Carrier ScreeningAshkenazi Jewish Population

Tay-Sachs (1/30), Canavans Disease (1/40),and Gaucher Disease (1/15)

Caucasian PopulationCystic Fibrosis (1/25)

African-American Population

Sickle Cell Anemia (1/10) Greek/Mediterranean/Asian Population

Thalassemias


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Maternal ExposuresMedications- lower dose in pregnancy

Ex: Seizure medications, Vitamin A

Drug-use

Ex: Heroin, Cocaine, Alcohol

Other

Maternal diabetes


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Prenatal Counseling:

Process Information Gathering

Assess interests/needs

Patients agenda

Family History and Pregnancy History ? Additional risks other than indication

Risk AssessmentPerceived risk

Information GivingDiagnosis/Indication related

Prenatal testing options

Psychosocial Counseling


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Psychosocial

Counseling: IssuesPatients agenda

Personal Values

Meaning ofPregnancy Infertility vs.

unwantedpregnancy

Social Support

Past Social History

Perceived

Risks/Benefits of

AnxietyDecision-making

regarding:Testing

Test result

Pregnancy


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To have or not tohave????

What do you think are some of

the factors to have or not to

have prenatal diagnosis?

Evans et al, 1990: Kolker & Burke, 1993; Marteau, 1995; Van

Spijker, 1992


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Decision-making

factors Faith/Spirituality

Personal Values

Whats given

Information

Experience with

disability

Beliefs on pregnancy

termination

Partner and family

support

Past experience with

prenatal testing

Friends and family

Fears of test

Tolerance for

ambiguity

Need for reassurance

Anxiety given

diagnosis

Doctors advice


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Abnormal Prenatal

ResultsCounseling issues

Crisis and grief counseling

Support and facilitate decision-making Provide information/resources/support groups

Outcome of Pregnancy

Continuation of pregnancy

Termination

Adoption


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Prenatal testing:

EthicalImplications

What do you think are some of

the ethical issues surrounding

prenatal testing?


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Ethical Issues:

DisabilityMedical Model of Disability

Implied eugenic Thrust? (Hubbard,1988) Concern by advocates for persons with disabilities, feminists,

and bioethicists At the core of the medical model view is that disability must be

prevented, because disabled people cannot function withinexisting society

Attribution TheoryThe more help will be given when dependency is attributed to factors

such as lack of ability on the victims part (internal but uncontrollablecause) than when it is attributed to lack of effort on the victims part(internal and controllable cause).

Marteau and Drake (1995)


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Ethical Issues

When to say when

How much testing can/will we offer?

Where will we draw the line?Sex selection

Perfect baby

Presymptomatic testing prenatally

Ex: Breast cancer


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Resources National Society of Genetic counselors (NSGC)

http//www.nsgc.org

Phone: (610) 872-7608

American Board of Genetic Counseling (ABGC)http://www.faseb/org/genetics/abgc/abgcmenu.htm

Phone:(301) 571-1825

Genetic Alliance (nonprofit organization)http://www. Geneticalliance.org
http://www.faseb/org/genetics/abgc/abgcmenu.htmhttp://www.faseb/org/genetics/abgc/abgcmenu.htm


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ResourcesHelpful books:

Baker, D., Schuette, J., and Uhlmann, W. (eds) (1988) A Guide to Genetic

Counseling. New Your: Wiley-Liss

Clarke, A. (ed) (1994) Genetic Counseling: Practice and Principles. London:

Routledge.

Parens, E., and Asch, A. (eds) (2000). Prenatal Testing and Disability

Rights. Washington, DC: Georgetown University Press.

Rapp, R. (1999). Testing Women, Testing the Fetus. New York:

Routledge.


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Citations Black, R. (1992). Seeing the baby: The impact of ultrasound technology.

Journal of Genetic Counseling. 1 (1), 45-54.

Evans, M., Bottoms, S,. Critchfield, G., Greb, A,. & LaFerla, J.

(1990). Parental perception of genetic risk: correlation with choice of prenatal

diagnostic procedures. International Journal of Gynecology-Obstetrician, 31,25-28.

Hubbard, R. (1988). Eugenics: New tools, Old Ideas. Women Health, 12(1-

2), 225-235.

Klaus, M. and Kennel, J. (1982). Parental Infant Bonding. CV Mosby co.

Kolker, A., & Burke, B. (1994). Prenatal Testing: A Sociological Perspective.

Westport, CN: Bergen and Harvey


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Citations

Lippman, A. (1991). Prenatal genetic testing and screening:

Constructing needs and reinforcing inequities. American Journal of Law andMedicine, 17, 15-49.

Mataeu, T.,& Drake, H. (1995) Attributions for disability: The influence of

genetic screening. Social Science and Medicine, 40(8), 1127-1132.

Rothman, B. (1986). The tentative pregnancy. New York: Viking.

Van Spijker, H. (1992) Support in decision-making processes in the post-

counseling period. Birth Defects: Original Article Series, 28(1), 29-35

genetic counseling in the prenatal settting

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