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Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy.
Patau syndrome, Down syndrome (trisomy 21), and Edwards syndrome (trisomy 18) are the only three trisomies compatible with extrauterine life. However, few infants with either Patau or Edwards syndrome live more than a few days after birth.
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The estimated incidence is approximately 1:6000. There may be an increased incidence with advanced maternal age.
Described features are protean and include:
congenital heart disease: 50-80%
central nervous system/head and neck abnormalities: 70%
holoprosencephaly: most well-known associated CNS anomaly: ~40-50% 9
intrauterine growth restriction (IUGR): tends to be early
abnormal facies: 90%, strong marker
cleft lip +/- palate: ~45% 9
microphthalmia: rarely anophthalmia 10
polydactyly: 70% (tends to be post-axial)
abdominal wall abnormalities
Three forms are known
free trisomy 13: classical form
translocation trisomy 13
mosaic trisomy 13
reduced maternal serum alpha fetoprotein (MSAFP)
reduced maternal beta HCG
Many of the individual clinical features listed above may be seen on ultrasound. Other general features include:
abnormal liquor volumes: either polyhydramnios (more common) or oligohydramnios
evidence of intrauterine growth restriction (IUGR): especially early
increased nuchal thickness
evidence of hydrops fetalis
Treatment and prognosis
The syndrome carries a poor prognosis, with most cases ending in fetal demise or neonatal death. Management is mainly supportive.
Individuals with Meckel-Gruber syndrome may exhibit some clinical features similar to that of trisomy 13.
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