Genetic Screening and Genetic Counseling

Important points to know: Be aware of the difference between targeted screening and population screening, and
know that both types are pre-symptomatic (late onset diseases and reduced penetrance can be included in this
catagory). Know the common diseases that are tested for in high risk ethnic groups
Prenatal Screening: know the four common defects which are screened for: The three trisomies that are
compatible with life and the neural tube defects (including anencephaly).
Know the markers which are looked at and know both the long names of the markers and abbreviations. Know
the approximate optimum times for the first trimester and second trimester tests. Know the following table well:

Know the definition of cfDNA (slide 12)

Be able to identify the structural defects that can be seen by ultrasonography and when they can be see seen.
Know the differences between the 3 invasive tests which are typically only performed when the probability of
an affected fetus is high.
Newborn Screening
Know the 4 criteria for a disease that can be selected to include in the Newborn Screening Panel of tests. How is
the blood sample taken? What is the method of testing for the five examples of disease that are shown below?

What is the method of testing for the five examples of disease that are shown below? (you should also
know the pattern of inheritance and at risk populations for the diseases below, (PKU and SCID are likely
pathethnic meaning that there does not seem to be one race or group that has higher risk). Is there management?
Carrier screening: What is it and what situations in the family would lead to people choosing to get carrier
screening performed? What options do a couple have if both persons are identified as a carrier.

What is the meaning of "residual risk"

Genetic Counseling: What are the basic goals and describe the 4 basic issues involved with "genethics"

Genetic Counselors often calculate risk. Know how to answer the following population genetics problem:

Dont forget the two thirds rule that applies to a sib of a child affected with autosomal recessive disorder