Chromosomal abnormalities: Trisomy 18

Question 1

What is it?

Answer 1

Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 18. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability

Question 2

How is it diagnosed?

Answer 2

Amniocentesis and chorionic villus sampling used to analyse the chromosomes

Question 3

How is it treated?

Answer 3

Individual issues are treated but no direct cure

Question 4

What is the prognosis?

Answer 4

Most foetuses will die before birth and most will not live beyond 1st year of life. Only a very small amount will live to their 20s and 30s

Question 5

Any specific midwifery care?

Answer 5

L