Genetics and prenatal diagnosis
The main indication for chromosome analysis is a pregnancy that has been identified as being at risk of a cytogenetic disorder due to:
- following a high risk screening result for Down's syndrome
- abnormalities found on ultrasound scan
- a previous chromosome abnormality
- where a parent is known to carry a chromosome abnormality
- advanced maternal age
Genetic studies on the foetus can be undertaken on amniotic fluid cultures (usually at about 15-16 weeks gestation), by chorionic villus sampling (CVS) (from 11 weeks gestation), or by foetal blood sampling (from 18 weeks gestation). Foetal urine and pleural effusions are also occasionally used.
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