Block 2 Case 10 Answers

1. As the OB/GYN of a 39 year old pregnant woman, you must deliver the results of her Triple Marker Findings. You obtained the results at the 17th week and report an decreased Alpha Fetal Protein, increased hCG, and decreased Urine Estriol. What genetic abnormality does this test screen for?

Down Syndrome

If you were only looking at AFP and you had found it to be increased, what would you suspect?

Neural Tube Defects -possibly due to folate deficiency prior to conception

2. Which Trisomy is associated with all 6 of the following anomalies/disease processes?  Which is the most common cause of death for individuals with this Trisomy that are older than 35? Which is the major factor affecting survival in early childhood?

-ALL

-Sterility in all males

-Atrial and ventricular septal defects (cushion defects)

-Hirschprung's disease

-Duodenal atresia
-Alzheimers

Trisomy 21

3. Which clinical findings are common between Trisomy 21, Trisomy 18, and Trisomy 13?

a. ∫Rocker Bottom Feet/Finger Edwards Trisomy 18

Clenched hands with overlapping fingers

b. Ventricular Septal Defect is common to ALL 3!

Ventricular Septal Defect

c. Patau Trisomy 13

Cystic Kidneys

 d. Patau Trisomy 13

Polydactyly