Number Of Down Syndrome Cases Research Articles

A child with Down Syndrome and Type 2 Diabetic Mellitus

Down Syndrome (DS) is one of the common chromosomal disorders that raise mental retardation. It is known that DS patients have an autoimmune disorder affecting the endocrine and non-endocrine organs. It is a rare occurrence of type 2 Diabetes Mellitus (type 2 DM) disease in children with DS. Type 2 DM occurs due to impaired insulin secretion and excessive hepatic glucose production, unlike type 1 DM, caused by the destruction of íŸ-cells in autoimmune Langerhans. A 10-year-old girl patient was referred from Tabanan Hospital to Sanglah Hospital, Denpasar. Patients were admitted to the hospital with decreased consciousness, treated for four days, and observed in ICU for 2 days. Vomiting twice, no seizures, urinating normally. No significant past medical history was found. Physical examinations showed a typical Mongolian face, short neck, expanded occipital area, small eyes, and a mouth with a prominent tongue. Laboratory data revealed fasting blood glucose of 473 mg/dL and an HbA1C level of 12.6%. Urinalysis showed ketone 3+. The C-peptide test showed a reasonably good íŸ pancreas cell function. Down syndrome is associated with autoimmune diseases, including type 1 diabetes. The exact number of down syndrome cases with type 2 DM remains unknown; however, it was known that the case is infrequent.

Introducing the non-invasive prenatal testing for detection of Down syndrome in China: a cost-effectiveness analysis

ObjectiveThis study aimed to compare the health economic value of a non-invasive prenatal testing (NIPT) strategy against a second-trimester triple screening (STS) strategy for the detection of Down syndrome based...

The consequences of implementing non-invasive prenatal testing with cell-free foetal DNA for the detection of Down syndrome in the Spanish National Health Service: a cost-effectiveness analysis

BackgroundDNA-based non-invasive prenatal testing (NIPT) using maternal blood constitutes an emerging technology for the detection of Down syndrome (DS). The aim of the study was to conduct a cost-effectiveness analysis to evaluate the economic costs and health implications of the introduction of NIPT based on cell-free foetal DNA analysis through different screening strategies for the detection of DS.MethodsAn analytical short-term decision model was developed, from the payer´s perspective (Spanish National Health Service). The main outcome measure was the number of DS cases detected. Secondary measures included associated miscarriages, women undergoing current screening, women undergoing NIPT, positive NIPT and invasive procedures performed. The study setting was the Spanish National Health Service. Three strategies were compared: (a) first- and second-trimester screening (current screening); (b) NIPT as contingent testing; and (c) NIPT as first-line testing. Modelling was based on a hypothetical cohort of 100,000 Spanish pregnant women. Population data were obtained from the database of the Basque Antenatal Screening Programme. Deterministic sensitivity analyses were performed to assess variations in the cost of NIPT, screening risk cut-off, screening uptake-rate and rate of failure of NIPT.ResultsNIPT as contingent testing (strategy b) led to fewer miscarriages following invasive procedures and a slight reduction in the number of DS cases detected compared to current screening. However, lowering the screening cut-off to ≥ 1:500 would improve the overall effectiveness of NIPT as contingent testing, increasing the number of DS cases detected and decreasing foetal losses as compared to the current screening, despite there would be an extra-cost of 3.5%. When NIPT was used as first-line testing (strategy c), the screening would be more effective but also more expensive, with incremental cost-effectiveness ratios (ICERs) per additional case of DS detected of €1,299,763 and €1,232,763, compared with strategies a and b, respectively. Results were sensitive to the different parameters considered in the analysis.ConclusionsBoth, as first-line testing and as contingent testing when screening cut-off was lowered ≥ 1:500, NIPT would lead to more favourable outcomes as compared to the current screening (both in terms of DS cases detected and miscarriages avoided), but at a greater cost.

VP36 Cost-Effectiveness Of Non-Invasive Prenatal Testing For Down Syndrome

INTRODUCTION:The analysis of cell-free fetal DNA in maternal blood, also called Non-Invasive Prenatal Testing (NIPT), represents an emerging technology and a possible alternative/complement to current prenatal screening based on biochemical and sonographic markers for Down Syndrome (DS) detection.The aim of the study was to compare the application of NIPT with the prenatal diagnosis/screening procedures currently applied in the Basque Country.METHODS:An analytical decision model was developed to assess the costs and consequences, comparing current prenatal screening, NIPT as a contingency test in high-risk cases and NIPT as a first-line screening test. An economic analysis was conducted to determine which strategy was more cost-effective. Sensitivity analyses were performed (1).RESULTS:For a population of 97,074 pregnant women in gestational week 14 and a cut-off point of 1:270, NIPT as a contingent test was not cost-effective, detecting two cases less of DS and causing a lower number of miscarriages related to invasive-testing (4 versus 23) at a slightly lower cost (EUR8,111,351 versus EUR8,901,872).For risk cut-off points of 1:500 or 1:1000 for contingent NIPT, the number of DS cases detected increased, as did the cost. It could be cost-effective compared with current prenatal screening, (EUR61,763 or EUR256,123 per extra DS case detected, respectively).Using the NIPT as a primary test detected more DS cases (296 versus 271) and caused less miscarriages (5 versus 23), at a substantially higher cost (EUR41,395,645 versus EUR8,901,872). Cost-effectiveness analysis indicated that it was more expensive and more effective.Univariant sensitivity-analysis showed that when the price of the NIPT as primary test was EUR76, it was dominant compared with current prenatal screening. It was also cost-effective compared with the NIPT as a contingent test (EUR9,869 per extra DS case detected).CONCLUSIONS:The study shows that NIPT had higher detection rates for DS in different scenarios, but the cost constitutes a limiting factor for implementation in the Basque Health System.

Hirschsprung’s disease associated with Down syndrome: a meta-analysis of incidence, functional outcomes and mortality

Down syndrome (DS) is the most frequent chromosomal abnormality associated with Hirschsprung's disease (HD). It has often been suggested that this association results in poorer outcomes with regard to postoperative complications, continence and mortality. On the other hand, the results after surgical treatment of HD in patients with DS are reportedly similar to those in cases with HD alone. The objective of this study was to determine the incidence of DS in cohorts with HD, and to compare pre-/postoperative complications, functional outcome and mortality between cohorts with and without coexisting DS. A systematic literature-based search for relevant cohorts was conducted using multiple online databases. The number of DS cases in HD cohorts was recorded and data on pre-/postoperative complications, functional outcome and mortality were extracted. Pooled odds ratios with 95% confidence intervals were calculated using meta-analysis methodology. Sixty-one articles met defined inclusion criteria, comprising data from 16,497 patients with HD. The overall incidence of DS among them was 7.32%. Vice versa, the incidence of HD in 29,418 patients with DS was 2.62%. There were no significant differences regarding the male-to-female ratio between cohorts with and without coexisting DS (4:1 vs. 3:1 respectively; P = 0.5376). The rate of additional comorbidities was significantly higher in HD associated with DS (P < 0.0001). Recto-sigmoid HD was in both cohorts the most common type of HD (P = 0.8231). Long-segment HD was significantly more frequent in HD with coexisting DS (P = 0.0267), while total colonic aganglionosis occurred significantly more often in HD without DS (P = 0.0003). There were no significant differences in preoperative constipation/obstruction (P = 0.5967), but the rate of preoperative enterocolitis was significantly higher in HD associated with DS (P = 0.0486). Postoperative complications such as recurrent enterocolitis (P = 0.0112) and soiling (P = 0.0002) were significantly more frequent in HD with coexisting DS. Although not statistically significant, fecal incontinence (P = 0.1014) and persistent constipation (P = 0.1670) occurred more often after surgical treatment of HD with DS. The mortality rate was significantly higher in HD associated with DS (P < 0.0001). The association of HD with DS is well-recognized with an incidence of 7.32%. A large number of patients with DS continue to have persistent bowel dysfunction after surgical treatment of HD. Our data provide strong evidence that the coexistence of HD and DS is associated with higher rates of pre-/postoperative enterocolitis, poorer functional outcomes and increased mortality.

Cost analysis of Down syndrome screening in advanced maternal age

Objective: To analyze the potential cost and efficacy of Down syndrome screening in the population with advanced maternal age.Methods: Three screening methods defining Down syndrome riskfor women with advanced maternal age were analyzed: advanced maternal age; advanced maternal age and maternal serum triple screen; and advanced maternal age, maternal serum triple screen and genetic sonogram.Costs for all tests and procedures were estimated. Procedure-related loss for amniocentesis was assumed to be 1 : 200. Efficacy was defined as: number of amniocenteses performed, number of Down syndromecases detected, procedure-related losses, Down syndrome cases detected per fetal loss, cost per Down syndrome case detected and total cost of screening.Results: In 1999 in the USA, there were530 610 women with advanced maternal age at 16 weeks' gestation carrying an estimated 4043 fetuses with Down syndrome. Screening by maternal age alone would result in the 100% detection of Down syndromecases, but would require over 530 000 amniocenteses and result in 2653 procedure-related losses. Combining age with serum screen and genetic sonogram would detect 97.6% of Down syndrome cases, but wouldrequire only 119 791 amniocenteses and result in 599 procedure-related losses. The projected cost per Down syndrome case detected using age screening is $219 109 versus $155 992 using serum screen and geneticsonogram.Conclusions: The combination of advanced maternal age, maternal serum screen and genetic sonogram would result in the fewest procedure-related losses and lowest cost per Down syndromecase detected.

Down syndrome in the Czech Republic during 1961-1997: prevalence, prenatal diagnosis and maternal-age-specific rates

Data from a population-based register of congenital anomalies in the Czech Republic (total number of 5 319 002 births from the period under the study and 4933 Down syndrome cases) were used. Mean incidence of Down syndrome in births during the total period was 7·91/10 000 live births, the total incidence with the inclusion of prenatally diagnosed cases was 9·47/10 000 live births. The ratio of prenatally diagnosed cases out of the total number of Down syndrome cases increased in the period 1980-1997 from 20% to 60% in the whole population. The age distribution among mothers with Down syndrome babies shows a significantly increased risk for a maternal age of 34 years and over. The results indicate the important role of prenatal diagnosis in the change of incidence of Down syndrome at birth. Maternal age-specific rates must be used as basic data for improved calculation of individual risk in screening for Down syndrome in a population.

The impact of legal termination of pregnancy and of prenatal diagnosis on the birth prevalence of Down syndrome in Denmark

A considerable reduction in number of livebirths for mothers over 35 was observed in Denmark from 1960 to 1980. Birthrates for those aged 35-39 fell by 58.8%, for those aged 40-44 by 78%. In 1979-1980 100 infants with Down syndrome were born among 116757 newborns, a birth prevalence of 0.86 per 1000, which was significantly lower than the incidence of 1.17 per 1000 when the prenatally diagnosed cases were included. The reduction was noticeable for the age group over 35 where it fell to 1.89 per 1000 for mothers 35-39 and 6.48 per 1000 for mothers over 40. The utilization of prenatal diagnosis was 72 per 100 livebirths for women 35 and older in the Copenhagen area and 56 per 100 livebirths for the rest of the country, with differences in different areas. The number of induced abortions for women 35 years and older was 9265 against 6597 livebirths. The estimated number of Down syndrome cases averted by unrestricted abortion was 61, twice the number prevented by amniocentesis (31), with the greatest impact for mothers over 40. An increased risk of Down syndrome for the age group 35-39 was observed when liveborn and prenatal cases were considered together showing an incidence of 6.89 per 1000, with the highest incidence in the Copenhagen area, 8.70 per 1000, more than double the incidence of 3.04 observed in Copenhagen from 1960 to 1971, for the same age group.