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

Types of prenatal tests

 

1. Screening tests determine if the baby has an increased risk of having a particular problem such as Down syndrome or a neural tube defect. They are not diagnostic and an increased risk result does not mean the baby will definitely be affected.
2. Prenatal screening tests include:
3. Ultrasound
4. Early pregnancy (first trimester) screening: nuchal translucency ultrasound together with testing of the mother’s blood
5. Second trimester screening: testing the mother’s blood (maternal serum screening)
6. Prenatal screening tests should not be considered routine, but rather offered as a choice to women.

 

1. Diagnostic tests determine if the baby has, or will develop after birth, a genetic condition. Sampling procedures to obtain cells for chromosome analysis or specific genetic tests are invasive.
2. Prenatal diagnostic tests include:
3. Ultrasound
4. Chorionic villus sampling (CVS)
5. Amniocentesis
6. Prenatal diagnostic tests should not be considered routine, but rather offered as a choice to women.

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