Prevalence Of T21 Research Articles

Trisomy 21 Patients Undergoing Cavopulmonary Connections Need Improved Preoperative and Postoperative Care

Patients with trisomy 21 (T21) often have elevated pulmonary vascular resistance, which may result in a suboptimal cavopulmonary connection (CPC) after a Glenn or Fontan operation. The purpose of this study was to assess, in a nationwide, multiinstitution cohort of patients with CPC, the impact of T21 on patient morbidity, mortality, and resource use. A total of 23,271 pediatric patients with CPC (2004 to 2019) at 50 US hospitals were evaluated using the Pediatric Health Information System database. Univariable and multivariable regression analyses were used to assess risk-adjusted associations between Down syndrome and other risk factors and postoperative measures of morbidity, mortality, lengths of stay, and cost of hospitalization. The overall prevalence of T21 among patients who had undergone Glenn and Fontan procedures was 1.5% (199 of 13,268) and 0.8% (78 of 1003), respectively. Among both CPC cohorts, T21 status significantly increased unadjusted mortality, hospital lengths of stay, and total costs of hospitalization compared with the non-T21 CPC cohort (all P < .001). Patients with T21 also had a higher incidence of prolonged mechanical ventilation compared with patients without T21 in both Glenn and Fontan groups (P < .001). Multivariable regression analysis further estimated that patients with T21 are associated with a 5.5-fold increase in mortality (P < .001) compared with patients without T21. Finally, patients with T21 had increased long-term mortality compared with their peers. T21 significantly increases risk-adjusted morbidity, inpatient mortality, long-term mortality, and resource use after cavopulmonary connections. Further investigation is needed to clarify modifiable patient-level and center-specific risk factors to improve outcomes for patients with T21.

Potential Increased Risk of Trisomy 18 Observed After a Fertilizer Warehouse Fire in Brazos County and TX.

Background: In this paper, we aimed to investigate the potential impacts of a fire accident in a fertilizer warehouse on chromosomal anomalies, including Trisomy 21 (T21) and Trisomy (T18) among pregnancies in Brazos County, Texas. We conducted an observational study in Brazos County, TX, with all patients of T18 and T21 cases in the live births in Brazos County between 2005–2014. The prevalence of T18 and T21 before, during, and after the accident in Brazos County were calculated and compared. The Standardized Morbidity Ratio (SMR) was applied to compare the prevalence of T18 and T21 in Brazos County to the statewide prevalence in Texas after adjusting for maternal race and age. Compared with statewide risk, the risk of T18 during the impacted years in Brazos county was found to be significantly higher (SMR = 5.0, 95% Confidence Interval(CI): 2.19–9.89), while there was no significant difference before (SMR = 0.77, 0.13–2.54) and after the accident (SMR = 0.71, 0.12–2.36). However, the prevalence of T21 during the impacted years was not significantly different from those before or after the accident. This study conclusively suggests that this fertilizer fire may be related to the increased prevalence of T18 in Brazos County, though the findings warrant further investigation.

Genetic diagnosis of trisomy 21 in chimpanzees (Pan troglodytes).

The most frequent chromosomal aneuploidy in humans, trisomy 21 (T21), has only been reported twice in the common chimpanzee (Pan troglodytes). In both cases, phenotypical traits were comparable to human T21 traits and were formally diagnosed through conventional techniques like chromosomal staining. Here, we present the first application of sequencing data as a diagnostic tool to compare chromosomal dosage imbalances in chimpanzees. By calculating the ratio of mapped reads on each chromosome between a case and a control, we observe a trisomic dosage imbalance on chromosome 21 in the case individual. While case numbers remain too low to be conclusive, evidence suggests that prevalence of T21 in chimpanzees could be lower than in humans. In future genetic testing of captive ape populations, the genetic diagnostic methods presented here will allow for a reliable and time-efficient assessment of the global prevalence of chromosomal dose imbalances in chimpanzees and other great apes.

Increased Risk of Trisomy 18 Observed after a Fertilizer Warehouse Fire in Brazos County, TX

TPS 911: Air pollution, epigenetics, biomarkers, Exhibition Hall, Ground floor, August 26, 2019, 3:00 PM - 4:30 PM Trisomy 18 (T18) is the second most common autosomal chromosomal disorder due to the presence of extra chromosome 18 after trisomy 21 (T21). However, the causes of T18 remain unknown. In 2009, a fire accident occurred in a fertilizer warehouse in Brazos County, Texas. It caused extensive flames and smokes, which resulted in evacuating the south of town. The potential impacts of this accident-related pollution on birth outcomes (or congenital malformations) has rarely been studied. In this study, we assessed the effects of exposure to pollution from this fire accident on Trisomy 21 (T21) and Trisomy (T18), two of the most common chromosome abnormalities, using Texas birth defect data and live birth data. The changes in prevalence of T18 and T21 before (2005-2008), during the impacted years (2009-2010, i.e. current year and one year after the accident) and after the accident (2011-2014) were analyzed, respectively. Standardized Morbidity Ratio (SMR) was applied to examine the elevated risk of chromosomal anomalies as compared to the statewide risk after adjusting for maternal race and age. The prevalence of T18 was significantly higher during the impacted years (2.5%-5.7%) than those in the years before and after the accident (0%-1.3%). Comparing to the statewide risk, the risk of T18 during the impacted years in Brazos county was significantly higher (SMR=5.0, 95% CI: 2.19-9.89) while there was no significant difference before (SMR=0.77, 0.13-2.54) and after the accident (SMR=0.71, 0.12-2.36). However, the prevalence of T21 during the impacted years was not significantly different from those before or after the accident. No elevated risk of T21 during the impacted years was observed as compared to the statewide level. This study suggested that this fertilizer fire may be related to the increased risk of T18 in Brazos County, TX. The findings warrant further investigation.

Impact of prenatal screening on the prevalence of Down syndrome in Slovenia.

ObjectivesTo evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on the prevalence of T21 in Slovenia.Design and settingData about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was calculated.Main outcome measuresThe primary outcomes measures were number of fetuses and newborn infants with T21 diagnosed prenatally and postnatally and the impact of advances in screening and genetic diagnostics on the prevalence of newborns with T21 in Slovenia.ResultsDespite a significantly increased mean maternal age from 25.4 years in year 1981 to 30.3 years in year 2012 the prevalence of newborn infants with T21 was 0.51 per 1000 births compared to 0.55 per 1000 births, respectively. The prevalence of prenatally diagnosed cases increased from 0.03 per 1000 births to 2.06 per 1000. The detection rate of T21 in year 2012 was 78,9%. The total number of prenatal invasive procedures (chorionic villous sampling and amniocenteses) carried out during that period was rising until 2002, since when it is stable at around 7%.ConclusionThe advancement and implementation of screening tests and prenatal diagnostic procedures in Slovenia caused an important improvement in the efficiency of the prenatal detection of T21.

Эффективность пренатальной диагностики синдрома Дауна в шести областях Центрального и Юго-Восточного регионов Украины

Chromosomal aneuploidy (CA), having an incidence rate of 6-8 per 1000 live births, holds a special place in the structure of congenital and hereditary pathology. Among the common CA, trisomy 21 chromosomes (T21) is the most frequently found (its incidence rate in the general population amounts to 1:700–800 live births). The objective: to study the efficiency of prenatal screening of CA (Down’s syndrome, DS) in the areas under the Center’s operational activity in the period of 2010-2015; To estimate the actual prevalence of DS in terms of born and prenatally diagnosed, eliminated fetuses with T21; On the basis of retrospective analysis of indications for prenatal karyotyping, in all detected cases of DS, to specify their structure and incidence rate; Based on data from medical literature, to make a comparative analysis with similar studies in different countries around the world. Patients and methods. Over the six years (2010–2015) we have performed 3,137 invasive prenatal interventions, among which are 720 chorionic villus biopsies, 929 placententesises, and 1,488 amniocentesis of pregnant women having a high risk of CA, who were seeking medical help from our center whose operational activity covers 6 provinces (oblasts). Results. From 3,137 prenatally karyotyped studies, there have been found only 558 cases of fetal CA, including 288 fetuses with T21. A retrospective analysis of the structure of indications for invasive prenatal diagnosis in 288 pregnant women, having fetuses with prenatally detected DS, is presented as follows: – separate: only 40-aged and above mothers – 4 (1.38%); Ultrasound (US)-findings (anomalies and markers of CA) – 192 (69.5%); High biochemical risk of CA – 2 (0.7%). – combined: the mother’s age is 40 and above + US findings – 36 (13%); The mother’s age is 40 and above + US and biochemical (BC) markers – 8 (2.8%); Ultrasound findings + positive BC test – 32 (11.5%). Delivery of the previous child with DS by a pregnant woman under 40 years with no ultrasound and BC markers – 1 (0.34%). In total, ultrasound findings (anomalies and markers of CA) were found in 97.5% of cases of prenatally detected fetuses with DS. The index of prenatal detection of fetuses with Down syndrome of all registered karyotyped cases of T21 (pre- and postnatal) in the Dnepropetrovskaya oblast corresponds to the average European level - 65%, (in the areas of the center’s operational activity – 37.7%). Taking into account 242 cases of DS in fetuses aborted prior 22 weeks of gestation, the actual prevalence of T21 in case of their birth would be 1:766 (13 per 10.000 infants). Conclusions. Prevalence of Down syndrome among newborns in the Dnepropetrovskaya oblast as a result of prenatal diagnosis of chromosomal abnormalities makes 1: 1257, which is 1.8 times lower than the incidence in the average population (1:700); In other areas covered by the center’s consulting and diagnostic activity this rate is 1.1–1.55 times lower than that of the population one. In the absence of the existing system of prenatal diagnosis of Down syndrome, its average prevalence in these provinces would correspond to that of the general population 1:766 newborns. Key words: сhromosomal abnormalities, Down syndrome, prenatal screening strategies, ultrasound diagnosis, invasive prenatal diagnosis, ultrasound markers.

Extracorporeal Membrane Oxygenation in Pediatric Trisomy 21: 30 Years of Experience from the Extracorporeal Life Support Organization Registry

To describe the use of extracorporeal membrane oxygenation (ECMO) in patients with trisomy 21 (T21), to identify risk factors for hospital mortality, and to compare outcomes with those of patients without T21. Children under age 18 years registered in the Extracorporeal Life Support Organization Registry were included. Comparisons between patients with T21 and patients without T21 were performed using the χ(2) or Wilcoxon rank-sum test and multivariable logistic regression. The study cohort included 623 patients with T21 and 46 239 patients without T21. The prevalence of T21 was 13.5/1000 patients receiving ECMO. ECMO utilization in patients with T21 increased over time, with 60% of cases occurring in the last decade. There was no significant difference in survival between patients without T21 and those with T21 (63% vs 57%; P = .23). In patients with T21, independent risk factors for mortality before cannulation were a cardiac indication for ECMO support and milrinone use (P ≤ .001 for both). Multivariable risk factors for mortality on ECMO included hemorrhagic, neurologic, renal, and pulmonary complications (P < .04 for all). The use of ECMO in patients with T21 has increased over time. Patients with a cardiac indication for ECMO have higher mortality compared with those supported for respiratory indications. Despite differences in indications for ECMO, patients with T21 have similar hospital survival as those without T21; thus, by itself, a diagnosis of T21 should not be considered a risk factor for in-hospital mortality when contemplating ECMO cannulation.

Total &amp; Livebirth Prevalence of Down Syndrome and Other Trisomies in Europe 1990-2007: Impact of Increasing Maternal Age, Prenatal Screening and Termination of Pregnancy

Background and aims: This study aims to examine trends in total and livebirth (LB) prevalence of trisomies 21, 18 and 13 (T21, T18, T13) with regard to increasing maternal age and prenatal diagnosis in Europe; and to examine geographical variation in LB prevalence of T21.Methods: The study population consisted of 21 registries in 12 European countries covering 5.1 million births, 1990-2007. Over 15,000 cases of trisomy including LB, fetal deaths (FD) from 20 weeks gestational age )GA(, and terminations of pregnancy for fetal anomaly (TOPFA) were extracted from EUROCAT database. Poisson regression was used to assess trends over time and to examine the effect of maternal age and correction for survival to 20 weeks GA.Results: The proportion of births born to mothers aged 35+ increased from 13% in 1990 to 20% in 2007. Total prevalence per 10,000 births was 21.6 for T21, 4.8 for T18 and 2.0 for T13; LB prevalence was 11.1 for T21, 1.0 for T18 and 0.5 for T13. There was a significantly increasing trend over time in total prevalence of the 3 trisomies, while LB prevalence remained stable. Maternal age significantly contributed to these trends while correcting for survival had little effect. There was three-fold geographical variation in LB prevalence of T21 between countries.Conclusion: The rise in older mothers has led to an increase in the number of trisomy-affected pregnancies in Europe. Prenatal screening and TOPFA have counteracted the effect of increasing maternal age on LB prevalence in most countries.

573: The impact of single vs multiple abnormal genetic screening tests in the detection of trisomy 21

THE DETECTION OF TRISOMY 21 ERAN BORNSTEIN, EREZ LENCHNER, ALAN DONNENFELD, YONI BARNHARD, DAVID SEUBERT, TOMER SINGER, MICHAEL DIVON, New York University, Maternal Fetal Medicine, New York, New York, New York University Statistics and Mapping laboratory, New York, Genzyme Genetics, Pennsylvania, Lenox Hill Hospital, Obstetrics & Gynecology, New York, New York OBJECTIVE: To determine the Odds Ratios of an abnormal first trimester screen (Ab1st), abnormal second trimester screen (Ab2nd) and abnormal genetic ultrasound (AbGU), either alone or in combination, in the detection of trisomy 21 (T21). STUDY DESIGN: A retrospective review of a Genzyme Genetics amniocentesis and CVS database (2006 to 2007) was performed. Specimens obtained following the detection of an Ab1st, Ab2nd and/or AbGU comprised the study group. Women who underwent amniocentesis solely for maternal anxiety or advanced maternal age served as controls. The prevalence of T21 in study cases and controls was compared with the use of Pearson Chi-Square testing. RESULTS: 98,338 specimens were analyzed. Odds ratio (O.R.) for the detection of T21 are presented in the table. CONCLUSION: Based on a very large amniocentesis and CVS database, our results indicate that Ab1ST is the single best predictor of T21. Furthermore, the presence of multiple abnormal screening tests significantly increases the risk of T21.