Nine children over the age of one year with full trisomy 13: A case series describing medical conditions

Abstract

Trisomy 13 (Patau syndrome), identified by Patau and colleagues [1960; Lancet 1: 790-793] is the third most common autosomal condition. Population studies indicate less than one in 10 children reaches their first birthday. In the face of mixed findings and recommendations for treatment, additional research is needed to further determine what contributes to longevity and implications for treatment for presenting medical conditions. The purpose of the present study is to report on presenting medical conditions and the presence or absence of the specific conditions (age at survey completion). Data on nine survivors (seven female, two male) with trisomy 13 indicated mean gestational age of approximately 36 weeks, birth weight ranging from 1100 to 3290 g and mean length of 45.3 cm. Length of hospital stay after birth varied. The majority of infants presented with well-known physical characteristics. Medical conditions and their treatment varied at birth and at survey completion. Notably, several infants' cardiac anomalies resolved without surgical intervention. Surgeries were provided for a range of conditions including gastrostomy tube placement to address feeding issues and removal of intestinal blockage. There were no reports of holoprosencephaly. Implications and recommendations are provided.

Anaesthetic considerations in a 15 month old with Patau's Syndrome: a case report and review of the literature

“…Although early mortality is still high, the children that do undergo surgical procedures have a good survival rate [4]. Palliative procedures, including gastrostomy tube placement [5], repair of atrial/ventricular septal defects and creation of oesophageal sphincters [6] are performed to improve quality of life. Therefore an in-depth discussion regarding the risks and benefits of the procedure, as well as the goals of care and the patient's overall prognosis, must take place with the child's parents and other physicians involved in the patient's care.…”

The outcomes of 31 cases of trisomy 13 diagnosed in utero with various management options

“…Several reports have suggested that the absence of holoprosencephaly may be an additional factor affecting the long‐term survival (Bruns & Campbell, ). To our knowledge, however, there are no reports mentioning other kinds of structural anomalies except holoprosencephaly.…”

“…Despite the conventional understanding of trisomy 13 as lethal, a substantial number of children now survive longer than 1 year and undergo medical and surgical procedures as a part of their treatment, even as neonates (Bruns & Campbell, ; Nelson, Hexem, & Feudtner, ; Tsukada, Imataka, Suzumura, & Arisaka, ), and some children benefit from some interventions (Lantos, ; Nelson, Rosella, Mahant, & Guttmann, ). Indeed, the 5‐year survival rate of T13 was reported to be 9.7% (Meyer et al, ).…”

Surviving with trisomy 13: Provider and parent perspectives and the role of the pediatric palliative care program

“…Baty et al [] notes that these children usually have on average of 2.2 surgical interventions in their first year of life. Bruns and Campbell [] describes the varying types of surgical interventions and Janvier et al [] noted increased survival to 1 year in children who receive such interventions [Janvier et al, ; Bruns and Campbell, ].…”