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

Managing a pregnancy with an abnormal karyotype

(See also Genetics in practice.)

1. It may be helpful to discuss the results with the service provider or clinical geneticist prior to informing the woman/couple.
2. Pre-test counselling should prepare the woman/couple for the possibility of a chromosome abnormality which may not have been anticipated.
3. Listen and give the woman/couple time to absorb the news and consider their options.
4. Referral to specialist Genetics Services is recommended for sex chromosome abnormalities and mosaic results and should be considered for all other abnormal karyotypes.
5. Not all chromosome abnormalities have a major effect on the baby. Medical texts are often out of date. It is important that the woman/couple receives up-to-date, unbiased information about the potential effects of a chromosome abnormality. Discussion with support groups can be helpful for parents (see Contacts, support and testing).
6. Decisions regarding the pregnancy should only be made once there has been a full discussion of the implications of the test results and the management options. This might include referral to Genetics Services, discussion with obstetricians and paediatricians, and referral to the relevant support group (see Contacts, support and testing).

 

Managing a pregnancy with a fetal anomaly

1. Referral of public patients to a high-risk clinic, perinatal management unit or fetal diagnostic unit is strongly recommended for a management plan and coordination of ongoing care. Further prenatal testing may be needed to clarify the diagnosis, eg abdominal wall defect may be due to a chromosomal trisomy.
2. Pre-test counselling should prepare the woman/couple for the possibility of a structural abnormality which may be detected incidentally.
3. Women and families can benefit from detailed discussion with support groups. The Fetal Medicine or Genetics Services will usually arrange for the family to meet clinicians who have experience in the management of babies with disability and birth defects. These services are located in the public and private sector.
4. A management plan may include providing the couple with:
5. The opportunity for consultation with appropriate specialists
6. Further diagnostic procedures
7. Further ultrasound scans in the presence of the appropriate clinical specialist (eg cardiologist present if cardiac defect is suspected)
8. Genetic counselling
9. Ongoing support if the pregnancy continues to term
10. Specific plans for delivery, postnatal care and support
11. Contact details of the relevant support groups

Copyright | Disclaimer | Privacy