patau syndrome

Patau syndrome (also known as trisomy 13) is considered the 3 commonest autosomal trisomy.

Patau syndrome along with Down syndrome (trisomy 21) and Edward syndrome (trisomy 18) are the only three trisomies to be compatible with extrauterine life. However, few infants live more than a few days.

Epidemiology

The estimated incidence is approximately 1:6,000. There may be an increased incidence with advanced maternal age.

Clinical presentation

Described features are protean and include

Pathology

Three forms are known

  • free trisomy 13: classical form
  • translocation trisomy 13
  • mosaic trisomy 13
Markers
Associations

Radiographic features

Antenatal ultrasound

Many of the individual clinical features listed above may be seen on ultrasound. Other general features include:

Treatment and prognosis

The syndrome carries a poor prognosis with most individuals not surviving beyond in utero or soon after birth. Management is mainly supportive.

Differential diagnosis

Clinically, individuals with Meckel-Gruber syndrome may carry some features similar to that of trisomy 13.