Aneuploidy (Trisomy 21, 13, 18) Questions And Answers

Aneuploidy (Trisomy 21, 13, 18) Questions And Answers
1. How long do children with Edward's syndrome live? - ANS-Rarely survive more than a few
months.
2. What is the treatment plan for Edward's syndrome? - ANS-Most babies die before or shortly
after being born.
3. What does micrognathia mean? - ANS-Condition in which lower jaw is undersized.
4. What does microcephaly mean? - ANS-Condition where a baby's head is much smaller than
expected.
5. What is the AOD of Edward's and Patau's syndrome? - ANS-Congenital heart disease.
6. What are the diagnostic tests for Edward's and Patau's syndrome? - ANS-Combined test - first
line. W11-14 ultrasound with NT > 6mm. Maternal blood test: Beta-HCG and PAPPA. If risk score
> 1 in 150, offer amniocentesis or chorionic villus sampling.
7. How can you differentiate Trisomy 18 and 13 from Trisomy 21 in diagnostic tests? - ANS-Trisomy
18 and 13 have similar results for W11-14, but PAPP-A tends to be lower in them.
8. What is the most common autosomal trisomy? - ANS-Down syndrome.
9. What is the most common genetic cause of severe learning difficulties? - ANS-Down syndrome.
10. How prevalent is Down syndrome? - ANS-Incidence is 1/650 or about 1.5 per 1000 live births.
Risk increases with maternal age.