Chromosomal abnormalities: Trisomy 21

Question 1

What is it?

Answer 1

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability
An extra chromosome (chromosome 21) originates in the development of either the sperm or the egg. When the egg and the sperm unite to form the fertilized egg, three (rather than two) chromosomes 21 are present. As the cells divide the extra chromosome is repeated in every cell.

Question 2

How is it diagnosed?

Answer 2

amniocentesis and chorionic villus sampling

Question 3

What is the treatment?

Answer 3

None

Question 4

What is the prognosis?

Answer 4

Average life expectancy of 60 years
Leading causes of death in adults with Down’s syndrome are respiratory infections and cardiac causes (including the consequences of congenital heart disease).
The development of dementia is particularly common after the age of 40 years, contributing to nearly 1/3rd of deaths

Question 5

Any specific midwifery care?

Answer 5

u