- Testing for Down's syndrome – Down's syndrome is a genetic condition that occurs when an individual has an additional copy of chromosome 21 (i.e. when three copies of chromosome 21 are present instead of two). Down's syndrome is the most common chromosomal condition in children and adults. It is characterised by learning difficulties but can also be associated with an increased chance of other medical conditions. As Down's syndrome is a variable condition, it is not possible to know how affected a baby will be; some adults with this condition are able to lead a fairly independent life, while others need continued support.
- Testing for Edwards’ and Patau’s syndromes – Edwards' syndrome (also known as trisomy 18) and Patau's syndrome (also known as trisomy 13) are very rare genetic conditions. Edwards' syndrome is caused by an additional copy of chromosome 18, and Patau's syndrome by an additional copy of chromosome 13. Both of these conditions are life-limiting, and many affected babies die during pregnancy or shortly after birth.
Non-invasive prenatal testing (NIPT) is a screening test that looks at the baby's DNA in the mother's bloodstream to identify whether the baby is affected by certain chromosomal abnormalities that might result in Down's syndrome, Edwards' syndrome or Patau's syndrome. It's a very accurate test that only requires a small blood sample from the mother. Down's syndrome, Edwards' syndrome or Patau's syndrome. It's a very accurate test that only requires a small blood sample from the mother.
NIPT is now available at the First Encounters clinic in Cardiff. The test is analysed using the Vanadis® NIPT system from PerkinElmer. The Vanadis® NIPT system is a CE-marked in vitro diagnostic product in accordance with European directive 98/79/EC.