Genetic Prenatal and Newborn Testing

Question 1

TRUE OR FALSE: Phenylketonuria is caused by the mutation in the gene for the enzyme Phenylalanine hydroxylase.

Answer 1

TRUE

Question 2

Mandatory Newborn screening includes which of the following:
A. Down Syndrome Testing
B. Carrier Testing
C. Phenylketonuria Testing

Answer 2

C. Phenylkentonuria Testing

Question 3

what is predictive and presymptomatic testing used to detect?

Answer 3

Gene mutations associated with disorders that appear after birth or later in life.

Question 4

What is the difference between prenatal screening test and a diagnostic test?

Answer 4

Screening is done to see if a woman or her baby MIGHT have certain problems. Often, positive results in a screening test will lead to more testing to confirm or rule out the presence of a disorder.

Question 5

Heart defects in babies can be found in WHAT test as early as the first trimester.

Answer 5

First trimester Ultrasound.

Question 6

TRUE OR FALSE: HcG and PAPP-A are measured in the first trimester via blood test

Answer 6

TRUE

Question 7

AFP, Alhpha-pheto protein, a protein that unborn babies produce. A high level of AFP in amniotic fluid indicates what?

Answer 7

They baby might have a neural tube defect.

Question 8

What is a neural tube defect?

Answer 8

Occurs when the neural tube (around the spinal cord or brain) does not close properly.

Question 9

Triple screen test is used to test for what?

Answer 9

Neural Tube Defects