Search

Objective We aimed to conduct an analysis of the associations between the information provision procedure of prenatal screening for Down's syndrome and congenital anomalies and the intention to participate in prenatal screening (PS) of ethnicity groups and Dutch language proficiency groups. Design Using a prospective web-based registration form, we asked counselors (midwives, general practitioners, nurses and gynecologists) to report whether and how they offered information about PS to pregnant women. Duration The study was conducted from 2008 to 2010. Participants We collected data on the characteristics of the women who received an information offer about PS from counselors. Measurements Measures included socio-demographic and language proficiency level (LPL) characteristics, key elements of the provision procedure of PS, and intentional participation in PS. Findings The dataset represents 37% of the total population in the study area. Women with a non-native Dutch background and/or insufficient Dutch LPL received fewer information offers about PS, faced a reduced chance of receiving counseling, and showed lower intentional participation rates for PS. Key Conclusions Women with a non-native Dutch background and/or with an insufficient LPL are underserved in the Dutch PS program. These findings present evidence indicating that the fundamental principle of the Dutch Population Screening Act, namely, equal access to PS for all pregnant women, is not being realized. Implications for Practice Therefore, the study findings are important for national and international healthcare, policy makers and governmental professionals to allow ethnic and LPL-related differences in the provision and intentional uptake of PS., Author(s): Ingrid A. Peters [sup.1] [sup.2] , Kirsten M. Heetkamp [sup.1] [sup.4] , Nicolette T. C. Ursem [sup.1] [sup.2] , Eric A. P. Steegers [sup.1] , Semiha Denktas [sup.3] , [...]

Background/Objectives The body adiposity index (BAI) and relative fat mass (RFM) are anthropometric measures developed to estimate body composition (%Fat). There is limited research validating these methods of body composition assessment in adults with Down syndrome (DS). The aim of this study was to examine the accuracy of the BAI and RFM in a sample of adults with- and without DS. We hypothesize that the RFM would provide greater accuracy than the BAI when estimating %Fat. Subjects/Methods BAI and RFM were assessed in a sample of adults (n = 235, 50.2% female, 20.0% DS, 23.1 [plus or minus] 6.7 years). %Fat assessed using dual-energy X-ray absorptiometry served as the criterion method of body composition. Between-group differences were assessed using a two-way (SEX × DS) analysis of variance. Results BAI overestimated %Fat in men without DS, but underestimated %Fat in women without DS (4.1 [plus or minus] 4.5%Fat vs. -3.5 [plus or minus] 4.6%Fat, respectively, p < 0.001). BAI overestimated %Fat in men and women with DS (4.7 [plus or minus] 7.8%Fat vs. 0.8 [plus or minus] 7.5%Fat, respectively, p = 0.090). RFM slightly overestimated %Fat in male and female participants without DS, and did not vary by sex (0.9 [plus or minus] 4.0%Fat vs. 0.2 [plus or minus] 4.2%Fat, respectively, p = 0.248). RFM underestimated %Fat in men and women with DS, with no differences observed between sexes (-2.1 [plus or minus] 5.3%Fat vs. -2.2 [plus or minus] 6.9%Fat, respectively, p = 0.953). Conclusions The BAI and RFM can be used to estimate body composition in individuals with- and without DS, however, the RFM yields greater accuracy and is recommended when more advanced methods of body composition assessment are unavailable or create unwanted participant burden., Author(s): Michael V. Fedewa [sup.1] , Angela R. Russell [sup.1] [sup.2] , Brett S. Nickerson [sup.1] [sup.3] , Megan P. Fedewa [sup.4] , John W. Myrick [sup.4] , Michael R. [...]

Byline: Pawan. Kumar, Inusha. Panigrahi, Naveen. Sankhyan, Chirag. Ahuja, Prasoon. Goyadi Down syndrome (DS), resulting from trisomy 21, is a common cause of mental retardation. Around 20,000 babies with DS [...]

We directly sequenced cell-free DNA with high-throughput shotgun sequencing technology from plasma of pregnant women, obtaining, on average, 5 million sequence tags per patient sample. This enabled us to measure the over- and underrepresentation of chromosomes from an aneuploid fetus. The sequencing approach is polymorphism-independent and therefore universally applicable for the noninvasive detection of fetal aneuploidy. Using this method, we successfully identified all nine cases of trisomy 21 (Down syndrome), two cases of trisomy 18 (Edward syndrome), and one case of trisomy 13 (Patau syndrome) in a cohort of 18 normal and aneuploid pregnancies; trisomy was detected at gestational ages as early as the 14th week. Direct sequencing also allowed us to study the characteristics of cell-free plasma DNA, and we found evidence that this DNA is enriched for sequences from nucleosomes. fetal DNA | next-generation sequencing | noninvasive prenatal diagnosis | Down syndrome | trisomy

Changes to New Zealand policy in regard to antenatal screening for Down syndrome have been mooted in recent years with increasing attention paid to the potential of medical and technical interventions to 'improve outcomes'. While many argue that the introduction of a national screening programme might alleviate the problems apparent with the current regime, there are considerable social and cultural ramifications to the extension of these technologies, in particular the ways in which women's choices are structured and constrained when pregnancy is experienced in the context of routine antenatal screening. These factors suggest that the extension of screening technology to all pregnant women may not be desirable after all.

Trisomy 21 is the most common reason that women opt for prenatal diagnosis. Conventional prenatal diagnostic methods involve the sampling of fetal materials by invasive procedures such as amniocentesis. Screening by ultrasonography and biochemical markers have been used to risk-stratify pregnant women before definitive invasive diagnostic procedures. However, these screening methods generally target epiphenomena, such as nuchal translucency, associated with trisomy 21. It would be ideal if noninvasive genetic methods were available for the direct detection of the core pathology of trisomy 21. Here we outline an approach using digital PCR for the noninvasive detection of fetal trisomy 21 by analysis of fetal nucleic acids in maternal plasma. First, we demonstrate the use of digital PCR to determine the allelic imbalance of a SNP on PLAC4 mRNA, a placenta-expressed transcript on chromosome 21, in the maternal plasma of women bearing trisomy 21 fetuses. We named this the digital RNA SNP strategy. Second, we developed a nonpolymorphism-based method for the noninvasive prenatal detection of trisomy 21. We named this the digital relative chromosome dosage (RCD) method. Digital RCD involves the direct assessment of whether the total copy number of chromosome 21 in a sample containing fetal DNA is overrepresented with respect to a reference chromosome. Even without elaborate instrumentation, digital RCD allows the detection of trisomy 21 in samples containing 25% fetal DNA. We applied the sequential probability ratio test to interpret the digital PCR data. Computer simulation and empirical validation confirmed the high accuracy of the disease classification algorithm. circulating fetal nucleic acids | noninvasive prenatal diagnosis | sequential probability ratio test | trisomy21 | RNA SNP

Objectives. We assessed socioeconomic differences in probabilities of prenatal diagnoses of Down syndrome and continuation of pregnancies after such diagnoses, along with the effects of these differences on disparities in live-birth prevalences of Down syndrome. Methods. Using population-based data derived from 1433 cases of Down syndrome and 3731 control births, we assessed age-adjusted effects of maternal occupation and geographic origin on prenatal diagnoses, as well as overall and live-birth odds, of Down syndrome. Results. Maternal occupation and geographic origin had significant effects on the probability of a prenatal diagnosis of Down syndrome and on continuation of pregnancy after such a diagnosis. Women in lower-status occupational categories had higher odds of delivering a live-born infant with Down syndrome. In comparison with women in the highest-status occupational category, the age-adjusted odds ratio for a Down syndrome live birth among women without an occupation was 2.4 (95% confidence interval [CI] = 1.7, 3.3). By contrast, there were no disparities in age-adjusted overall likelihood of Down syndrome. Conclusions. Socioeconomic differences in use of prenatal testing have created disparities in the live-birth prevalence of Down syndrome. Overall Down syndrome risk does not vary according to socioeconomic status.

Down's Syndrome prenatal diagnostic and screening techniques have spread widely in France over the last 30 years and are now part of the routine clinical practice of prenatal care. These techniques, which originated in the field of genetics, ultrasonography and biochemistry, were the first to provide the possibility of choosing the features of the foetus, or at least to reject some of its characteristics. They lead to new norms of healthy foetuses and a progressive acceptance of medical abortions. The aim of this paper is to understand how the use of these tests has been generalised in France despite scientific controversies about their risks and ethical questioning about a potential renewal of eugenics. It analyses the representations of public needs that have been articulated by key players in the scientific and medical fields. This research explores political and administrative decision making processes to understand how progressively widening public access to prenatal testing has been organised and funded. The results highlight the scientific and political role of biomedical researchers, the forms of involvement of health authorities and politicians, and the passive participation of the vast majority of the users. The paper also examines the characteristics of the French health system that facilitated the generalised use of the technology. Keywords: Down's syndrome; Biomedical innovations; Genetics; Prenatal screening; France

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.socscimed.2006.04.032 Byline: Carine Vassy (a)(b) Keywords: Down's syndrome; Biomedical innovations; Genetics; Prenatal screening; France Abstract: Down's Syndrome prenatal diagnostic and screening techniques have spread widely in France over the last 30 years and are now part of the routine clinical practice of prenatal care. These techniques, which originated in the field of genetics, ultrasonography and biochemistry, were the first to provide the possibility of choosing the features of the foetus, or at least to reject some of its characteristics. They lead to new norms of healthy foetuses and a progressive acceptance of medical abortions. The aim of this paper is to understand how the use of these tests has been generalised in France despite scientific controversies about their risks and ethical questioning about a potential renewal of eugenics. It analyses the representations of public needs that have been articulated by key players in the scientific and medical fields. This research explores political and administrative decision making processes to understand how progressively widening public access to prenatal testing has been organised and funded. The results highlight the scientific and political role of biomedical researchers, the forms of involvement of health authorities and politicians, and the passive participation of the vast majority of the users. The paper also examines the characteristics of the French health system that facilitated the generalised use of the technology. Author Affiliation: (a) INSERM-CRESP, University of Paris 13, Bobigny, France (b) IGBIS, Nottingham University, Nottingham, UK

OBJECTIVE. Young infants with Down syndrome have an increased occurrence of several well-known medical conditions such as congenital heart and gastrointestinal disease. The aim of this study was to establish consequences like hospitalization and medication use rates and to determine their possible influence on early neurodevelopment. PATIENTS AND METHODS. This study compared 2 years of thyroxine treatment with placebo in 196 neonates with Down syndrome who were included in a previously reported randomized clinical trial. Parents were interviewed about comorbidity, hospitalization, and medication use at random assignment and regularly thereafter. Data were cross-checked with discharge letters when available. The influence of comorbidity on neurodevelopment at 2 years old (Bayley Scales of Infant Development II) was determined by stepwise multiple linear-regression analysis. RESULTS. Before trial entry, 163 infants with Down syndrome had been admitted to hospital for an average of 14.01 days, whereas during the trial, 95 of 181 infants who completed the trial were hospitalized for an average 19.75 days. Main hospitalization reasons during the trial were lung/airway and congenital heart and gastrointestinal disease. The 48 infants operated on for heart or gastrointestinal disease accounted for 1401 of the total number of 1876 hospital admission days during the trial and for 33 of 62 admissions for lung/airway infection. During their second year of life, ~60% of the infants were prescribed drugs, mostly antibiotics and pulmonary. Regression analysis showed infantile spasms, "other" central nervous system disease, and gastrointestinal disease necessitating surgery to be associated with greater developmental age delays at 24 months old (mental: 6.87, 3.52, and 1.69 months; and motor: 3.59, 2.54, and 1.68 months, respectively). CONCLUSIONS. Hospital admission and medication use rates in young infants with Down syndrome are still very high, mainly because of congenital heart and gastrointestinal disease and acquired respiratory disease. Central nervous system disease and gastrointestinal disease necessitating surgery were independently associated with a worse developmental outcome. Key Words Down syndrome, congenital heart disease, congenital gastrointestinal disease, infantile spasms, hospitalization, medication use, Bayley Scales of Infant Development Abbreviations DS--Down syndrome BSID II--Bayley Scales of Infant Development II CI--confidence interval CNS--central nervous system, DOWN SYNDROME (DS) is often accompanied by congenital heart and gastrointestinal disease, almost always manifesting in early infancy and often necessitating surgery. (1) In addition, infants with DS run increased [...]

BACKGROUND. Studies demonstrate an increased prevalence of celiac disease in persons with Down syndrome, leading some organizations and authors to recommend universal screening of children with Down syndrome. However, many children with Down syndrome are asymptomatic, and the long-term implications of screening are unknown. The complication of celiac disease that leads to mortality in the general population is non-Hodgkin&apos;s lymphomas. OBJECTIVES. The purpose of this research in asymptomatic children with Down syndrome was to (1) calculate the number needed to screen to prevent a single case of lymphoma and (2) present a cost-effectiveness study of screening. METHODS. We constructed a decision tree using probabilities derived from the published literature for Down syndrome or from the general population where Down syndrome-specific data were not available. Celiac disease was determined by serologic screening and confirmation with intestinal biopsy. Sensitivity analysis was used to alter probability estimates affecting the cost of preventing lymphoma. RESULTS. Using our baseline values, the no-screen strategy is dominant; that is, screening not only costs more but also results in fewer quality-adjusted life-years. A screening strategy costs more than $500 000 per life-year gained. Screening all asymptomatic children with Down syndrome for celiac disease costs almost $5 million to prevent a single case of lymphoma. CONCLUSION. These analyses do not support the cost-effectiveness of screening, and more data are needed before recommendations to screen asymptomatic children with Down syndrome for celiac disease can be made. Key Words Down syndrome, celiac disease, cost-effectiveness Abbreviations CD--celiac disease DS--Down syndrome SIR--standardized incidence ratio SMR--standardized mortality ratio Ig--immunoglobin GFD--gluten-free diet EMA--endomysial antibody tTG--tissue transglutaminase antibody CHD--congenital heart disease CI--confidence interval QALY--quality-adjusted life-year, CELIAC DISEASE (CD) is an immune-mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals. (1) Many studies have demonstrated the increased prevalence of CD in Down [...]

The First- and Second-Trimester Evaluation of Risk (FASTER) Trial is conducted with the aim of giving direct comparative data on lately available screening approaches to Down's syndrome from a large population followed prospectively. First-trimester combined screening at 11 weeks of gestation is found to be better than second-trimester quadruple screening however at 13 weeks has results similar to second-trimester quadruple screening.

Abstract Kidney disease has not been considered a frequent complication in Down syndrome (DS) patients; a variety of urological abnormalities and glomerulopathies have been reported in this population, and some [...]

Objective. Since 1964, researchers have been examining the ways in which physicians deliver a postnatal diagnosis of Down syndrome (DS). Almost all of the studies, however, have been limited to reflections or very small sample sizes. The objective of this study was to document, in the most robust comprehensive way, the reflections of mothers in the United States who received diagnoses of DS for their children. Methods. An 11-page survey was mailed to 2945 persons on the membership lists of 5 DS parent organizations. The survey gathered both quantitative and qualitative data with yes/no questions, open-ended questions, and a series of statements asking the mothers to rate their level of agreement on a Likert scale of 1 to 7. Results. Of the 1250 responses (42.4%), 985 were from mothers who received postnatal diagnoses of DS for their children. The majority of these mothers reported being frightened or anxious after learning the diagnosis, and very few rated the overall experience as a positive one. Mothers reported that their physicians talked little about the positive aspects of DS and rarely provided enough up-to-date printed materials or telephone numbers of other parents with children with DS. Improvement has been made with time, albeit slowly. Conclusion. Mothers have called on physicians to improve the way in which postnatal diagnoses are delivered. Specific recommendations are offered. Pediatrics 2005;115:64-77; Down syndrome, postnatal, diagnosis, medical support., ABBREVIATIONS. DS, Down syndrome; CVS, chorionic villus sampling; OB, obstetrician. The majority of families who have children with Down syndrome (DS) do not learn of their children s diagnosis until [...]