Recognizing the Clinical Features of Trisomy 13 Syndrome

Angel Rios, MD; Susan A. Furdon, RNC, MS, NNP; Darius Adams, MD; David A. Clark, MD

Disclosures

Adv Neonatal Care. 2004;4(6) 

In This Article

Prognosis

Although the median survival time for Trisomy 13 is between 2.5 and 8.5 days,[36,37] recent population-based studies have reported long-term survival rates of approximately 10% of infants with this disorder to 1 year of life.[38,39]  Table 4 shows the mortality rate over time. For example, if the infant is examined at 1 week of life, that infant has a 56% chance of survival at 1 month (range 32% to 81%) and 6% chance of survival at 1 year (range 0% to 18%). This information is valuable when counseling parents with newly diagnosed infants and can be used as a basis for discussion.

Cardiac defects associated with Trisomy 13 are often nonlethal. The primary reason for death is usually apnea.[40] There is a high incidence of apnea with or without severe cranial malformation.

Should the infant survive beyond the neonatal hospitalization, there are profound implications for future functioning. The infant will have growth restriction and intellectual impairment. Children typically function at a 6- to 12-month developmental level and at a severe to profound developmentally handicapped range.[41] Children with Trisomy 13 may learn to walk independently (or with a walker) but generally have low motor skills.[41] Toileting may be possible. Receptive and expressive language skills (following simple commands, understanding words, using a few words or signs), recognizing and interacting with others, and playing independently can be achieved.[41,42]

Comments

3090D553-9492-4563-8681-AD288FA52ACE
Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.
Post as:

processing....