Trisomies Detected by NIPT
Trisomy 13 (Patau’s Syndrome)
- Patau’s Syndrome is a genetic condition caused by the presence of three copies of chromosome 13 (instead of the usual two copies)
- For every 10,000-25,000 births there will be one baby born with Trisomy 13
- Patau’s Syndrome is a life-limiting condition.
- 5-8% of babies affected with Patau’s Syndrome survive beyond 1 year without extraordinary medical intervention. With medical intervention the survival rates have increased. The largest Trisomy 18/13 survival study in the USA reported a Trisomy 18 survival rate of 13.5% at 1 year of age and 12.3% at 5 years of age.
- Children with Patau’s Syndrome have birth defects including a small head size, small eyes, cleft palate/lip, brain malformations and kidney defects. 80% of children with Patau’s Syndrome have heart defects and may also be affected with developmental and motor disabilities, interrupted breathing (apnoea) events, feeding difficulties and seizures.
- Supportive treatment is available.
Further information can be found from the Support Organisation for Trisomy 13/18 (SOFT) here: www.soft.org.uk