The Role of Genetic Counseling in Preconception Care

1
The Role of Genetic Counseling in Preconception
Care

• Jennifer M. Hoskovec, MS
• Genetic Counselor/Clinical Instructor
• The University of Texas Medical School at Houston
• Department of Obstetrics, Gynecology and
  Reproductive Sciences

Sarah J. Noblin, MS, CGC Kari L.
Danziger, MS, CGC LBJ Hospital

University of California
Houston, TX San Francisco, CA
2
Genetic Counseling

• Who are Genetic Counselors?
• Health professionals with specialized degrees and
  experience in medical genetics and counseling
• They work as members of a health care team
  providing information and support to families who
  have members with birth defects or genetic
  disorders and families who may be at risk for a
  variety of inherited conditions

3
What do Genetic Counselors Do?

• Risk assessment
• Review available testing options
• Provide supportive counseling to families
• Serve as patient advocates
• Serve as educators and a resource for other
  health care professionals and the general public
• Take part in research activities related to the
  field of medical genetics and genetic counseling

4
Goals of Genetic Counseling

• To help families
• Understand the information presented to them
• Participate in the decision making process for
  their medical care
• Manage associated problems in ways best for the
  patient and their family

5
Genetic Counseling Session

• Contracting
• Experiences, knowledge, concerns, needs
• Family history
• Both maternal and paternal
• Explanation of medical/genetic information and
  testing options
• Clarify genetics/inheritance
• Psychosocial assessment/counseling

6
Genetic Counseling

• Genetic counseling is a health care specialty
  that provides patient care throughout life

Preconception
Prenatal
Adulthood
Infancy/Childhood
7
Common Indications for Referral

• Advanced maternal age (?35 years)
• Ethnicity
• Family history
• Carriers of genetic diseases
• Abnormal screening test results
• Abnormal genetic testing results

• Abnormal ultrasounds
• Maternal disease
• Maternal exposures
• Multiple miscarriages
• Consanguinity
• Family history of cancer

8
Family History Information Prenatal
Affected w/ Hunter syndrome
Hunter syndrome carrier
1/2
53 yr
55 yr HTN
56 yr
56 yr
1/2
25 yr
25 yr
dx. 2 yr 10 yr
1/4
½ x ½ x ½ x ½ 1/16 chance baby is
affected
9
Family History Information Preconception
Affected w/ Hunter syndrome
Hunter syndrome carrier
1/2
53 yr
55 yr HTN
56 yr
56 yr
1/2
25 yr
25 yr
dx. 2 yr 10 yr
½ x ½ 1/4 chance patient is a
carrier
10
Family History Information Post DNA Testing
Hunter syndrome carrier
50 risk for boys to be affected
Pregnancies not at risk
11
Ethnicity Based Screening

12
Ethnicity Based Screening

13
Maternal Conditions

• Pregestational Diabetes Melitus
• Women with pregestational DM are at an increased
  risk for birth defects (NTDs, cardiac, skeletal,
  and renal anomalies)
• Early and consistent control is important
• Seizure Disorder
• Early and consistent control is important
• Medication exposures

14
Genetic Counseling

• Genetic counseling is a health care specialty
  that provides patient care throughout life

Preconception
Prenatal
Adulthood
Infancy/Childhood