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