Patau syndrome (also known as trisomy 13) is considered the 3rd 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.
The estimated incidence is approximately 1:6,000. 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%
- spinal anomalies
- intrauterine growth restriction (IUGR): tends to be early
- abnormal facies: 90%, strong marker
- skeletal abnormalities
- abdominal wall abnormalities
- genitourinary anomalies
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:
- abnormal liquor volumes: either polyhydramnios (more common) or oligohydramnios
- evidence of IUGR: especially early
- increased nuchal thickness
- evidence of hydrops fetalis
- echogenic bowel 6
- echogenic chorda tendinae 7
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