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Review
. 2021 May;185(5):1631-1637.
doi: 10.1002/ajmg.a.62133. Epub 2021 Mar 11.

Surveillance guidelines for children with trisomy 13

Jeffrey W Kepple  1 , Kristen P Fishler  2 , Eric S Peeples  3
Affiliations
Review

Surveillance guidelines for children with trisomy 13

Jeffrey W Kepple et al. Am J Med Genet A. 2021 May.

Abstract

Trisomy 13 is one of the three most common aneuploidy syndromes in live-born infants. It is associated with mortality rates as high as 90% within the first year of life, in large part, due to the high prevalence of severe congenital abnormalities that increase mortality and morbidity. However, life-saving and life-prolonging medical interventions are being performed at a higher rate for these infants, resulting in increased rates of survival. Although cardiac complications have been well described in infants with trisomy 13, these patients also experience other complications such as respiratory, neurological, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 13 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.

Keywords: Patau syndrome; management; screening.

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References

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