Genetic Counseling in the Prenatal Setting
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
Genetic Counseling– Definition– History: Models of Genetic Counseling– Process– Profession
Prenatal Genetic Counseling– Process – Indications– Prenatal Testing– Psychosocial Issues– Ethical Implications
Genetic Counseling
How would you define genetic counseling?
What experiences (if any) have you had with genetic
counseling?
Genetic Counseling: Definition“The genetic counselor is a health professional who is academically and clinically prepared to provide 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 communicates genetic, medical, and technical information in a comprehensive, understandable, non-directive manner with knowledge of an insight into the psychosocial and ethno cultural experiences important to each client and family. The counselor provides client-centered, supportive counseling regarding the issues, concerns, and experiences meaningful to the client’s circumstances.”
American Board of Genetic Counseling
History: Models of Genetic Counseling
Eugene Model (“well born”)– Sheldon Reed (1947) coined term
“Genetic Counseling”– Bateson (1906) – Study of hereditary
“Advising” people about inherited traits
– Eugenics Records Office at Cold Spring Harbor
Collected data and provided information to affected families
– Mandatory Sterilization of “mentally defective” (1926)
23 out of 48 United States
Models Medical/Preventive Model
– 1940’s– Retreat from “advisement” with a focus on
prevention by offering risk information Decision-Making Model
– 1950’s – Discovery of cytogenetics of several chromosomal conditions
– Emphasis on providing information in an interactive process
Models Psychotherapeutic Model
– Provision of information alone is not enough
– Focus on response and experiences related to genetic conditions
– Framework Client-centered therapy – Carl Rogers Non-directiveness
Genetic Counseling Profession
Masters Training Programs– 1971 Sarah Lawrence College– Currently 28 training Programs (USA)
National Society of Genetic Counselors– 1979
American Board of Genetic Counseling – Certification process - 1981
Philosophy of Genetic Services
Voluntary utilization Equal Access Client Education Complete
disclosure of Information
Nondirective counseling
Attention to Psychosocial and Affective Dimensions in counseling
Confidentiality
Process of Genetic Counseling
Information Gathering– Family and Medical History
Risk Assessment– Actual risk vs. perceived risk
Information Giving– “Educators”
Psychosocial Counseling
Genetic Counseling Contexts
Reproductive Issues** Preconception counseling Prenatal Infertility
Pediatrics Newborn Screening Specialty Clinics
Adult-Onset conditions Specialty Clinics Pre-symptomatic testing: Breast and Colon Cancer,
Huntingtons disease
Prenatal Genetic Counseling
Prenatal Genetic Counseling
Preconception Counseling Carrier Screening Family history of genetic condition
– Risks and Pregnancy Options
Pregnancy Advanced maternal Age Abnormal Triples Screen- blood test Family history of genetic condition Fetus at risk for ____
Infertility Genetics of infertility Risks of infertility treatments (ex: ICSI)
Impact of Prenatal Counseling/Diagnosis Bonding (Klaus and Kennel, 1982)
– Influence bond formation between mom and baby
Planning the pregnancy Confirmation and acceptance of the
pregnancy Acceptance of the baby as a separate person
– Timing of prenatal information Pregnancy “on hold” until results of
testing (Rothman, 1986)- tentative pregnancy
Prenatal diagnostic Techniques
Amniocentesis
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
Prenatal Diagnostic Techniques
Amniocentesis Chorionic Villus Sampling Maternal Serum Multiple Marker
Screening Ultrasound
INDICATIONS
Advanced Maternal Age Definition: 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 and Detailed Ultrasound
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
Abnormal Triple Screen Developed in 70’s (AFP) and early 80’s
(“Triple” Screen) “Offered” to all pregnant women SCREENING TEST!!! 16-18 weeks
– Down syndrome– Trisomy 18– Neural Tube Defects
Three markers: AFP, hCG, uE3 Offered: Ultrasound and/or amniocentesis
Ultrasound finding May/may not be associated with
chromosome condition or known genetic condition
Offered: Amniocentesis (possibly CVS)
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
Family history cont.
History of unknown “condition”– Previous child with developmental delay
and additional medical concerns but no diagnosis
– History of recurring miscarriages/infant deaths
Offered: CVS/Amniocentesis (or Preimplantation Genetic Diagnosis (PGD)?)
Carrier Screening– Ashkenazi Jewish Population
Tay-Sachs (1/30), Canavans Disease (1/40), and Gaucher Disease (1/15)
– Caucasian Population Cystic Fibrosis (1/25)
– African-American Population Sickle Cell Anemia (1/10)
– Greek/Mediterranean/Asian Population Thalassemias
Maternal Exposures Medications- lower dose in pregnancy
– Ex: Seizure medications, Vitamin A Drug-use
– Ex: Heroin, Cocaine, Alcohol Other
– Maternal diabetes
Prenatal Counseling: Process Information Gathering
Assess interests/needs Patient’s “agenda” Family History and Pregnancy History
– ? Additional risks other than indication
Risk Assessment Perceived risk
Information Giving Diagnosis/Indication related Prenatal testing options
Psychosocial Counseling
Psychosocial Counseling: Issues Patient’s agenda Personal Values Meaning of
Pregnancy– Infertility vs.
unwanted pregnancy
Social Support Past Social History
Perceived Risks/Benefits of
Anxiety Decision-making
regarding: Testing Test result Pregnancy
To have or not to have????
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
Decision-making factors Faith/Spirituality Personal Values
– “What’s 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
Doctor’s “advice”
Abnormal Prenatal Results Counseling issues
– Crisis and grief counseling– Support and facilitate decision-making– Provide information/resources/support groups
Outcome of Pregnancy– Continuation of pregnancy– Termination – Adoption
Prenatal testing: Ethical Implications
What do you think are some of the ethical issues surrounding
prenatal testing?
Ethical Issues: Disability Medical 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 within existing society”
Attribution Theory“The more help will be given when dependency is attributed to factors
such as lack of ability on the victim’s part (internal but uncontrollable cause) than when it is attributed to lack of effort on the victim’s part (internal and controllable cause).”
• Marteau and Drake (1995)
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
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
Resources Helpful 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.
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
Citations
Lippman, A. (1991). Prenatal genetic testing and screening:
Constructing needs and reinforcing inequities. American Journal of Law and Medicine, 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