Better Prognosis in Newborns with Trisomy 13 Who Received Intensive Treatments: A Retrospective Study of 16 Patients

Abstract

Intensive treatment for newborns with trisomy 13 is controversial because of their lethal prognosis. We report the better life prognosis of patients with trisomy 13 who received intensive treatment. At our hospital, we provided an intensive management to such patients including resuscitation and surgical procedures as required. Herein, we present the results of a retrospective study (1989–2010) of 16 trisomy 13 cases who received an intensive treatment. None was diagnosed to have trisomy 13 before birth; 9 were delivered by C-section and oxygen was administered to all patients during postpartum resuscitation. Mechanical ventilation was used in 9 patients after tracheal intubation and tracheotomy was performed in 2 patients when withdrawing of extubation was difficult. Regarding prognosis, 9 patients died, 3 were referred to another hospital, and 4 were discharged from the hospital. Four and 7 patients died within 7 and 30 days after birth, respectively. Nine patients survived for >1 month, 7 for >180 days, and 5 for >3 years. Median survival for 16 patients was 733 days. The patients who received intensive treatments survived longer compared to the previous data. This study provides useful information concerning genetic counseling, especially from an ethical point of view, before providing intensive management to newborns with trisomy 13.

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

“…Importantly, in Hsu and Hou's sample, there was only one occurrence of holoprosencephaly and none in the TRIS project sample. Tsukada et al [2012] identified this condition in four cases (n ¼ 16) with longest survival of 50 days. The absence of this brain anomaly may be an additional factor in long-term survival.…”

“…ASD was the most prevalent in the TRIS project sample (66% at birth and 55% at survey completion). Tsukada et al [2012] report on 16 patients. Approximately half of the sample was diagnosed with ASD, PDA, and/or VSD.…”

“…Further, the data shared here includes frequency of oral and eternal feeding at more than one point in time (neonatal period and at survey completion). Tsukada et al [2012] reports on a sample of 16 with 10 diagnosed with cleft lip and cleft palate and only one child receiving corrective surgery. The child was one of four still living at the time of data analysis.…”

“…In addition, Lakovschek et al [2011] and Morris and Savva [2008] discuss the high incidence of fetal loss after prenatal diagnosis of trisomy 13. Tsukada et al [2012] offer improved outcome with intervention. Median survival for 16 patients was 733 days with 31% (n ¼ 5) living more than three years.…”

Methyl Tetra Hydro Folate Reductase Enzyme Polymorphism in the Mothers with Previous Autosomal Aneuploidy Birth in the Indigenous African Population of Northern Region of South Africa

“…The most common aneuploidies in South Africa caused by autosomal chromosomal abnormalities include Down syndrome (Trisomy 21), Edward syndrome (Trisomy 18) and Patau syndrome (Trisomy 13). Globally the incidence for Down syndrome is about 1 in 650 to 1000 live births [2], Edward syndrome is 1 in 6000 live birth [3], and Patau is between 1 in 5000 to 29000 live birth [4]. Currently the prevalence rate is 1 out of 500 live birth for Down syndrome in South Africa with 1886 new cases diagnosed every year [5] and for Edward syndrome the prevalence is 1 in 4000 live birth and Patau is 1 in 8889 live birth [6,7].…”