Leeds Fetal Medicine Unit Website

Patau's Syndrome (Trisomy 13)

Definition	Additional chromosome 13 (or part of chromosome 13) resulting in 47 rather than 46 chromosomes
Incidence	1:6000 live births (increasing with maternal age)
Diagnosis	Can only occur after karyotyping Ultrasound features that are suggestive Increased nuchal translucency 11-14 weeks (CRL 45-84mm) Holoprosencephaly Microcephaly Cerebellar abnormalities (e.g. Dandy Walker abnormality) Facial abnormalities (particularly midline cleft lips) Skeletal abnormalities (Polydactyly, Talipes, Rockerbottom feet) Renal abnormalities Omphalocele Two vessel cord IUGR
Gestation at diagnosis	11 weeks onwards
Known chromosomal or genetic association	Yes extra chromosome 13 or part of chromosome 13 following translocation
Further investigations	Karyotype for diagnosis
Differential Diaganosis	Meckel-Gruber Syndrome Holoprosencephaly without trisomy 13 Edward's syndrome
Prognosis	Very poor, most will survive to birth, but 75% die within the first 6 months of life, those that live longer have severe learning difficulties, seizures and feeding difficulties
Recurrance risk	Low (~1%)
Research Studies

Further information for clinicians please click here

Patient information leaflet please click here

Link to S.O.F.T ( a website designed to deal with issues around Edward's and Patau's sundrome; please click here)

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