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: