Patau syndrome (Trisomy 13)

Majority are non-dysfunction or Robertsonian translocation with gain of an ‘extra chr 13’

Resulting in 47,XX,+13 or 47,XY,+13

Rapid testing possible with FISH or diagnosed with full Karyotype (Micro-Array)

Antenatal scans shows multiple congenital anomalies

 

Anomalies include

– IUGR at birth

– Congenital heart disease (ASD, VSD, PDA etc),

– Microcephaly, slanting forehead and Holoprosencephaly

– Micropthalmia or corneal disorders,

– Cleft lip/ palate,

– Polydactyly, Overlapping digits

– Renal anomalies

 

Counseling at suspicion is necessary either antenatal or after birth

Majority (>90%) die before 12 months age

Management is supportive, but prognosis is poor.