LC 3

Question 1

Early Alzheimer’s Disease (75% by age 60)

Answer 1

Down Syndrome (Trisomy 21)

Question 2

Maternal Age with ~1 in 100 risk of Trisomy 21

Answer 2

40 years old

Question 3

beta-HCG in Trisomy 21 (low/normal/elevated)

Answer 3

Elevated

Question 4

beta-HCG in Trisomy 18 (low/normal/elevated)

Answer 4

Low

Question 5

beta-HCG in spina bifida or NTD (low/normal/elevated)

Answer 5

Normal

Question 6

MS-AFP in Trisomy 21 (low/normal/elevated)

Answer 6

Low

Question 7

MS-AFP in Trisomy 18 (low/normal/elevated)

Answer 7

Low

Question 8

MS-AFP in spina bifida or NTD (low/normal/elevated)

Answer 8

Elevated

Question 9

Elevated Inhibin A

Answer 9

Trisomy 21 (Down Syndrome)

Question 10

• Low MS-AFP
• Low estriol (uE3)
• Low beta-HCG
• Low PAPP-A

Answer 10

Trisomy 18 (Edwards Syndrome)

Question 11

• Low MS-AFP
• Low estriol (uE3)
• Elevated beta-HCG
• Elevated Inhibin A
• Low PAPP-A

Answer 11

Trisomy 21 (Down Syndrome)

Question 12

• Elevated MS-AFP
• Normal estriol (uE3)
• Normal beta-HCG

Answer 12

Neural Tube Defect (or spina bifida)

Question 13

PAPP-A in Trisomy 13

Answer 13

Decreased

Question 14

MS-AFP in trisomy 21 vs. NTD

Answer 14

Low and elevated (respectively)

Question 15

Nuchal translucency testing is for detecting:

Answer 15

• Down Syndrome (90%)

* Trisomy 18 [Edwards] (98%)

Question 16

Amniocentesis

Answer 16

Collection of amniotic fluid

Question 17

Sampled at 10-12 weeks: amniocentesis or CVS?

Answer 17

CVS

Question 18

When is Cell Free Fetal DNA Testing indicated?

Answer 18

In patients at risk for aneuploidy (abnormal number of chromosomes)

Question 19

Diagnosis of Down Syndrome on Massively Parallel Sequencing

Answer 19

Overrepresentation of Chromosome 21 fragments