Trisomy 13 (Patau's syndrome): a rare case of survival into adulthood

Patau syndrome (trisomy 13) is very rare in live-born babies. Individuals with this chromosomal syndrome have a short lifespan and are rarely seen beyond infancy. This study is aimed at the clinical spectrum, natural history, and survival of patients with trisomy 13. We reviewed the detailed data of 13 Patau syndrome live-born babies. Among them two individuals were delivered from continuation of pregnancy even after prenatal diagnosis. The remaining 11 patients were born to younger mothers who did not undergo amniocentesis because no major anomalies except for cleft lip/palate were found on prenatal sonograms. The common features of Patau syndrome including the clinical triad (microphthalmia, cleft lip/palate, and polydactyly) and non-cyanotic heart defects were always found in our series. However, certain serious central defects (holoprosencephaly, omphalocele, and single umbilical artery), which are easily recognized from prenatal sonogram, occurred less frequently than those stated in the literature. The median survival time was 95 days and was longer than that previously reported. There were two infants with trisomic mosaicism with different outcomes in both clinical spectrum and survival. Otherwise, we also found the increased recurrence risks of aneuploidy in two individuals, and the longest survivor (84 months) of non-mosaic trisomy 13 in Taiwan. We thus suggest that long-term survival in our series is strongly correlated with different expressivity after prenatal selection, in addition to cytogenetic mosaicism. Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and polycystic kidney may contribute to their clinical courses.

Section: Discussionmentioning

confidence: 99%

Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism

Hsu¹,

Hou²

2007

“…Some studies have suggested that individuals with translocations or mosaic trisomy 13 have better survival rates, while other studies do not show any differences across these subgroups [Magenis et al, 1968; Hodes et al, 1978a,b; Rasmussen et al, 2003]. Although the prognosis for individuals with trisomy 13 is extremely poor, there have been six reports in the literature of individuals with trisomy 13 who have survived beyond 10 years of age [Redheendran et al, 1981; Singh, 1990; Zoll et al, 1993; Tunca et al, 2001].…”

Section: Introductionmentioning

confidence: 99%

Survival of Texas infants born with trisomies 21, 18, and 13

Vendola

Canfield

Daiger

et al. 2010

Trisomies 21, 18, and 13 are the three most common trisomies among infants who survive to 20 weeks gestation or more. Overall information about birth prevalence, natural history, and mortality for all three trisomies is well defined, but information about ethnic-specific rates is limited. Only a few studies have examined mortality rates of trisomies 18 and 13 because so few cases are liveborn and most have very short life spans. This study assessed ethnic-specific population-based survival probabilities among infants for each trisomy. All cases of trisomies 21, 18, and 13 born in Texas between 1999 and 2003 were obtained from the Texas Birth Defects Registry and included 2,260 cases of trisomy 21, 398 cases of trisomy 18, and 213 cases of trisomy 13. Date and cause of death were obtained from the Texas vital statistics records and the National Death Index. Overall, birth prevalence rates (per 10,000 adjusted live births) for the three trisomies were 11.74 (95% CI: 11.25-12.25), 1.34 (95% CI: 1.18-1.52), 0.92 (95% CI: 0.79-1.07), respectively, and are consistent with previously reported rates. There were no differences in survival rates by ethnicity and the median survival for each trisomy was consistent with previous reports. The results of this study provide comprehensive population-based information for survival of infants with trisomies 21, 18, and 13.

“…In another study of 70 infants, median survival was 7 days and only approximately 10% lived past 12 months of age [Rasmussen et al, 2003]. These and other site‐specific or population‐based investigations [Goldstein and Nielsen, 1988; Nembhard et al, 2001; Brewer et al, 2002; Cleves et al, 2003; Forrester and Merz, 2003; Crider et al, 2008; Vendola et al, 2010; Irving et al, 2011] describe brief life spans while case studies generally offer more positive outcomes [e.g., Singh, 1990; Zoll et al, 1993; Sweeney and Pelegano, 2000; Tunca et al, 2001; Iliopoulos et al, 2006]. In a sample of 11, Hsu and Hou [2007] found median survival was 95 days including a 7‐year‐old.…”

Section: Introductionmentioning

confidence: 99%

Birth history, physical characteristics, and medical conditions in long‐term survivors with full trisomy 13

Bruns

2011

The purpose of the study is to provide data about long-term survivors with full trisomy 13 (t13). Mothers of 30 long-term survivors with full t13 completed an online survey. Survey data were downloaded into an SPSS database. Descriptive statistics were used to analyze survey data. Tracking Rare Incidence Syndrome (TRIS) Survey data on survival, birth information including maternal and paternal age at conception, physical characteristics, and medical conditions were compared. Data indicate longer mean survival rates (48.4 months for those living at the time of data collection, 40.8 months for those who died prior) than described in the literature. Means for gestations age, birth weight, and length are 38.11 weeks, 2,789.34 g and 48.45 cm, respectively. Long-term survivors presented with syndrome-related physical characteristics (e.g., low-set ears, cleft lip and palate) and medical conditions (e.g., ventricular septal defect (VSD), feeding difficulties). We conclude that data indicate longer survival and a range in birth information (gestational age, birth weight, and length) along with presence of common presenting physical characteristics and medical conditions of long-term survivors with full t13.