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

Prenatal diagnostic tests

 

1. Types of prenatal diagnostic tests include:
2. Chorionic villus sampling (CVS)
3. Amniocentesis
4. Ultrasound

 

Important considerations about prenatal diagnostic tests

1. CVS and amniocentesis testing require invasive sampling procedures to obtain cells for chromosome analysis or specific genetic tests.
2. It is not possible to detect or diagnose every possible condition a child might have using prenatal diagnosis.
3. Both CVS and amniocentesis have a risk of miscarriage. The risk is operator dependent, so tests should be performed by an experienced operator.
4. Indications for offering diagnostic testing include:
5. Advanced maternal age (≥37 yr in Victoria, ≥35 yr elsewhere)
6. A previous pregnancy with a chromosome abnormality
7. The presence of soft signs of chromosome abnormality during ultrasound examination
8. A parent carrying a chromosome translocation (5% of Down syndrome is caused by an unbalanced translocation involving chromosome 21 that was inherited from a parent with a balanced form of the translocation, see Chromosomal conditions)
9. An increased risk result on a screening test
10. An increased risk of having a baby with a genetic condition – usually when there is a family history of an inherited genetic condition
11. Prior to testing, there should be a full discussion of the advantages and disadvantages of the procedures, the implications of the possible test results and subsequent management options, including methods of termination of pregnancy and the available supports.

Copyright | Disclaimer | Privacy