Genetics Unit 10: Genetic Counseling

Front 1

Goals of genetic counseling

Back 1

Help family to:
1) Understand the medical aspect (diagnosis, course of disorder, available management)
2) Understand the hereditary contribution and implications and risk of recurrence.
3) Understand options for dealing with recurrence risk.
4) Identify values, beliefs, goals, and relationships of affected by risk of presence of disease.
5) Make best possible adjustment by providing supportive counseling to families.

Front 2

Elements of genetic counseling

Back 2

1) Diagnosis
2) Occurrence/Recurrence risk assessment
3) Communication
4) Follow-Up

Front 3

Components of a genetic history

Back 3

1) Pregnancy history
2) Past medical history
3) Diet history
4) Developmental history
5) Family history

Front 4

Major reasons for a prenatal test

Back 4

1) Maternal age >35
2) A positive screening
3) Abnormal Ultrasound
4) Teratogen Exposre
5) Prior history of abnormality

Front 5

Screening test v.s. Diagnostic test

Back 5

Identify pregnancies which are at a high risk for problems. Diagnostic tests give you a yes or no.

Front 6

Ultrasound: what does it measure, what can it detect, when can it be used?

Back 6

Measures: Fetal growth, fetal movement, amniotic fluid volume, placenta
Detects: Structural abnormalities. CNS, skeletal, cardiac, urinary. Can be done at any time

Front 7

Ultrasound: Pros and cons

Back 7

Pros: Low risk to fetus, non invasive
Cons: Cant detect everything, get a lot of soft signs which are clues but cant confirm anything, and also causes lots of anxiety.

Front 8

Genetic amniocentesis: pros and cons

Back 8

Pros: definitive diagnosis, very accurate
Cons: Invasive, minor risk of pregnancy loss, infections and other general risks of an invasive procedure. Also cannot be done before 16 weeks.

Front 9

CVS pros and cons

Back 9

Pros: done earlier than amniocentesis, catching diagnosis early could lead to treatment.
Cons: pregnancy loss of 1%, infection, bleeding, isoimmunization, limb abnormalities if done before 10 weeks, tougher to do, less info, mosaicism means not 100% sure, can get maternal cell contamination

Front 10

Preimplantation diagnosis

Back 10

For in-vitro fertilization. Check status of embryo prior to implantation.
Pros: Can avoid terminating a pregnancy
Cons: Expensive, not as high yield, not widely available, what do u do with leftover embryos, could be increased risk of imprinting disorders.