Citation, DOI & article data
Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy.
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%
intrauterine growth restriction (IUGR): tends to be early
abnormal facies: 90%, strong marker
abdominal wall abnormalities
Three forms are known
free trisomy 13: classical form
translocation trisomy 13
mosaic trisomy 13
Many of the individual clinical features listed above may be seen on ultrasound. Other general features include:
evidence of IUGR: especially early
increased nuchal thickness
evidence of hydrops fetalis
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.
Clinically, individuals with Meckel-Gruber syndrome may carry some features similar to that of trisomy 13.
- 1. Johnson PT, Kurtz AB. Obstetric and gynecologic ultrasound, case review. Mosby Inc. (2001) ISBN:0323008607. Read it at Google Books - Find it at Amazon
- 2. Weissleder R, Wittenberg J, Harisinghani MM et-al. Primer of Diagnostic Imaging, Expert Consult- Online and Print. Mosby. (2011) ISBN:0323065384. Read it at Google Books - Find it at Amazon
- 3. De graaf P, Van der valk P, Moll AC et-al. Retinal dysplasia mimicking intraocular tumor: MR imaging findings with histopathologic correlation. AJNR Am J Neuroradiol. 2007;28 (9): 1731-3. doi:10.3174/ajnr.A0635 - Pubmed citation
- 4. Winter TC, Uhrich SB, Souter VL et-al. The "genetic sonogram": comparison of the index scoring system with the age-adjusted US risk assessment. Radiology. 2000;215 (3): 775-82. Radiology (full text) - Pubmed citation
- 5. Thiers FA, Sakai O, Poe DS et-al. Persistent stapedial artery: CT findings. AJNR Am J Neuroradiol. 2000;21 (8): 1551-4. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 6. Papp C, Beke A, Ban Z et-al. Prenatal diagnosis of trisomy 13: analysis of 28 cases. J Ultrasound Med. 2006;25 (4): 429-35. J Ultrasound Med (full text) - Pubmed citation
- 7. Lehman CD, Nyberg DA, Winter TC et-al. Trisomy 13 syndrome: prenatal US findings in a review of 33 cases. Radiology. 1995;194 (1): 217-22. Radiology (abstract) - Pubmed citation
- 8. Watson WJ, Miller RC, Wax JR et-al. Sonographic detection of trisomy 13 in the first and second trimesters of pregnancy. J Ultrasound Med. 2007;26 (9): 1209-14. J Ultrasound Med (full text) - Pubmed citation
- 9. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
- 10. Nyberg DA, McGahan JP, Pretorius DH. Diagnostic imaging of fetal anomalies. Lippincott Williams & Wilkins. (2003) ISBN:0781732115. Read it at Google Books - Find it at Amazon