Neonatal Screening & Genetic Disorders

Question 1

Describe what blood testing can look for in neonatal screening

Answer 1

• errors of metabolism
• endocrine disorders
• hemoglobinopathies
• chromosomal/gene disorders
• cystic fibrosis

Question 2

Describe when and how a newborn genetic screen is collected

Answer 2

From the warmed heel of the baby 24-72 hours after birth

Question 3

Describe the etiology of phenylketonuria

Answer 3

Question 4

Describe the presentation of untreated PKU

Answer 4

Question 4

Describe the diagnosis of PKU

Answer 4

Question 5

Describe the treatment of PKU

Answer 5

Question 6

Describe the presentation of SCID

Answer 6

Question 6

Describe the treatment of SCID

Answer 6

Question 7

Describe the diagnosis of SCID

Answer 7

Question 7

Describe the etiology of SCID

Answer 7

Question 8

Describe the etiology of retinopathy of prematurity

Answer 8

Question 9

Describe the etiology of trisomy 21

Answer 9

Question 10

Describe the presentation of trisomy 21

Answer 10

Question 11

Describe the diagnosis & PE of trisomy 21

Answer 11

Question 12

Describe the etiology of trisomy 18

Answer 12

Edwards Syndrome

Question 13

Describe the presentation/PE of trisomy 18

Answer 13

Question 14

Describe the etiology of trisomy 13

Answer 14

Platau Syndrome

Question 15

Describe the presentation of trisomy 13

Answer 15

Question 16

Describe the etiology of turner syndrome

Answer 16

Question 17

Describe the presentation of turner syndrome

Answer 17

Question 18

Describe the etiology of klinefelter syndrome

Answer 18

Question 19

Describe the presentation of klinefelter syndrome

Answer 19

Question 20

Describe the treatment of turner syndrome

Answer 20

Question 21

Describe the treatment of klinefelter syndrome

Answer 21

Question 22

Describe the etiology of cri du chat

Answer 22

Question 23

Describe the presentation of cri du chat

Answer 23

Question 24

Describe the etiology & presentation of williams beuren syndrome

Answer 24

Question 25

Describe the etiology & presentation of Prader Willi syndrome

Answer 25

Question 26

Describe the etiology & presentation of Angelman Syndrome

Answer 26

Question 27

Describe the etiology & presentation of DiGeorge Syndrome

Answer 27

Question 28

Describe the etiology & presentation of Beckiwth Weidemann

Answer 28

Question 29

Describe the etiology & presentation of Fragile X sydnrome

Answer 29

Question 30

Describe the etiology & presentation of genetic association syndrome: VACTERL

Answer 30

Question 31

Describe the etiology & presentation of genetic association syndrome: CHARGE

Answer 31

Question 32

Describe the RF for auditory deficits in neonates

Answer 32

Question 33

Describe the screening for auditory deficits in neonates

Answer 33