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Genetics and prenatal diagnosis

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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