The Genetic Checklist

Question 1

Important pieces of information for the GC

Answer 1

• age of mother at due date
• screening and testing that may have already been done
• ancestry/ethnicity
• other history: recurrent pregnancy losses, significant family history, etc

Question 2

Timing of carrier screening

Answer 2

idealy preconception, otherwise first or second trimester.

Question 3

Concurrent screening

Answer 3

both partners at the same time

Question 4

sequential screening

Answer 4

one partner first, second only if first was positive

Question 5

Hemoglobinopathy testing strategy during pregnancy

Answer 5

CBC may detect low MCV. Low MCV <80 can indicate low iron.

Question 6

what does a hemoglobinopathies electrophoresis do?

Answer 6

measures the different types of hemoglobin in blood

Question 7

Abnormal HbS (hemoglobin S) levels indicate

Answer 7

If low levels of HbS (<50), mom may have sickle cell trait (high levels >50, indicate sickle cell disease)