Assessment
Holoprosencephaly:
Microcephaly:
Cleft lip/palate:
Micro/anophthalmia:
Cardiac abnormalities:
Enlarged/echogenic/cystic kidneys:
Exomphalos:
Post axial polydactyly:
Rocker-bottom feet:
Useful phrases
If a pregnancy is continued after a diagnosis of Trisomy 13, there is a high likelihood of the fetus developing growth restriction and/or dying in the womb before birth. Around 6 out of 10 babies born alive with Trisomy 13 will die within a week, and more than 9 out of 10 within 1 year. Problems with feeding and breathing are common and may require intensive medical support. Children with Trisomy 13 will have some degree of learning disability which may be severe; some children will be able to sit and stand with support, but few will be able to attend school. At least half of those affected will have lifelong seizures, hearing loss, joint contractures, impaired vision, or other anatomical abnormalities which may not be apparent until after birth.
In the absence of a parental Robertsonian translocation, the rate of recurrence is less than 1%.
Resources
https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/
https://fetalmedicine.org/education/fetal-abnormalities/chromosomal-defects/features
Useful notes (O&G, MFM) 