1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

GP's role

1. In the case of either personal/family history of recurrent miscarriage, infertility, or developmental delay, consider a karyotype for the couple as part of their diagnostic process (during the pre-conception or prenatal period if applicable).
2. Where a parental karyotype is abnormal, refer to Genetics Services (see Contacts, support and testing).
3. Refer to a paediatrician if a baby is suspected of having Down syndrome or other chromosomal abnormality.
4. Refer parents to a relevant support group (see Contacts, support and testing).

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