Genetic Counseling in the Prenatal Settting
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Transcript of 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