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

Counselling regarding termination of pregnancy

1. It is common for women/couples to be deeply shocked after receiving difficult/bad news. They often immediately request a termination. It is important to allow some time for the woman/couple to come to terms with the news and consider their decision. This may include discussions with relevant health professionals and support groups.
2. If termination of pregnancy is an option, the woman/couple should be encouraged to make their decision based on their personal values and accurate, up-to-date and unbiased information.
3. When women/couples have a choice of the method of termination, all options and the associated risks and advantages should be discussed, preferably with an obstetrician or prenatal Genetics Services.
4. Whether or not they wish to see the baby after termination should be discussed in advance.
5. If a post-mortem examination is required for accurate diagnosis, this should also be discussed in advance.
6. Grief after a termination is a normal reaction to the loss of a wanted pregnancy and can be complicated by feelings of guilt and anxiety for future pregnancies.
7. Ongoing support for the woman/couple is important, regardless of their decision. Women/couples may turn to their GP for support, or benefit from consultation with a genetic counsellor with experience in
   prenatal diagnosis. Contact your local AGA Peak Body (see Contacts, support and testing) for a local support group.

 

Management of a pregnancy identified as increased risk by screening, but found to have a normal fetal karyotype

1. The woman/couple will experience a raised level of anxiety, even with the best counselling support.
2. After a diagnostic test (such as CVS or amniocentesis followed by karyotyping) excludes a chromosomal condition (Down syndrome, trisomy 18 or 13), the pregnancy remains at increased risk of other fetal
   anomalies or obstetric complications.
3. All women with increased risk following screening tests, but normal fetal karyotypes, should be referred for an 18 to 20 week detailed morphology ultrasound, and be monitored closely throughout the remainder of the pregnancy.

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