The Scenario: Dai Dai is a 42-year old healthy married Asian female who is pregnant with her first child.

The Scenario: Dai

Dai is a 42-year old healthy married Asian female who is pregnant with her first child. She presents for her first obstetrics appointment, asking about newborn screening and whole-genome sequencing (WGS). She wants to be as proactive as possible in planning for her baby’s future health. As such, she would like to pursue WGS since this would fulfill the newborn screening requirement in the state where she will deliver her baby, as well as provide much more information about her baby’s long-term health. Dai feels it is important to begin inquiring about WGS now so that her baby could have WGS performed in place of the standard screening

required for newborns.

QUESTIONS

1. What genetic screening tests are normally performed on neonates?

2. Discuss the advantages and disadvantages of whole-genome sequencing for neonates?

3. Discuss the current applications for whole-genome sequencing.

Must use text book as a resource and 1 scholarly resource no older than 5 years.

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