Block 2 Case 10

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?

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

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

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

a.

Clenched hands with overlapping fingers

b.

Ventricular Septal Defect

c.

Cystic Kidneys

 d.

Polydactyly