Genetic testing - screening

Question 1

What is newborn screening?

Answer 1

Population screening of newborn babies for a panel of genetic diseases using a blood sample

Question 2

What do newborn screens look for?

Answer 2

Biochemical markers that fall above or below a certain threshold

Question 3

What is heterozygote screening?

Answer 3

Screening the population for highly prevalent recessive disease alleles

Question 4

Why would a certain population undergo heterozygote screening?

Answer 4

If that population has particularly high rates of a genetic disease

Question 5

What are the two types prenatal screening?

Answer 5

Invasive and non-invasive

Question 6

What are the 4 types of invasive prenatal screening?

Answer 6

1. Amniocentesis
2. Chorionic villus sampling
3. Umbilical cord blood sampling
4. Pre-implantation screening for IVF

Question 7

What are the 3 types of non-invasive prenatal screening?

Answer 7

1. X-ray
2. Ultrasound
3. MRI

Question 8

Are prenatal screens done to every pregnant person? Who typically gets them?

Answer 8

No

1. Pregnant people of advanced age (higher rates of NDJ)
2. Family history of a disease

Question 9

What is family screening?

Answer 9

Screening a kindred for disease alleles

Question 10

When would a family be sent for family screening?

Answer 10

1. Strong family history of a disease

2. Testing carrier status for a recessive condition