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Purpose: Dyadic synchrony is positively associated with social competence. Although children diagnosed with Autism Spectrum Disorder (ASD) and children diagnosed with Down Syndrome (DS) both have trouble with dyadic synchrony, the origin of their difficulties is fundamentally different. In this mixed method study, we investigated differences in dyadic synchrony and social behavior between children diagnosed with ASD and DS. Methods: Twenty-seven children diagnosed with ASD (10 cisgender females; Mage = 10.98 years; SD = 2.21) and twenty-five children diagnosed with DS (11 cisgender females; Mage = 11.91 years; SD = 2.27) performed a collaborative drawing task with a parent in which they had to synchronize their drawing movements. We continuously tracked their dominant hand movements using wearable accelerometers, and performed Cross-Recurrence Quantification Analysis to extract synchrony measures. Additionally, we compared the social behaviors (interpersonal synchrony, emotion regulation, and social cognition, motivation, and confidence) of these children using quantitative parental questionnaires. Results: Parent-child synchrony measures were significantly higher for children diagnosed with ASD. Yet, parents were significantly more positive about the social behaviors of children diagnosed with DS. No significant correlation between the synchrony and questionnaire measures was found. Conclusion: While children diagnosed with ASD synchronize better during a collaborative task, the social behavior of the children diagnosed with DS (including social synchrony) is more positively evaluated by their parents. Possible reasons for this discrepancy are discussed. [ABSTRACT FROM AUTHOR]

This study aimed to learn about the experiences of families of individuals with a dual diagnosis of Down syndrome (DS) and autism spectrum disorder (ASD) (DS-ASD), and to document the journey from early concerns to diagnosis and intervention. Caregivers completed an online survey describing their journey raising a child with DS-ASD. Survey responses were analyzed qualitatively and coded into categories to highlight common themes. Stereotypy, severe communication impairments, and behavioral difficulties prompted caregivers to pursue further evaluation. There was a mean 4.65-year gap between first noticing symptoms and receiving an ASD diagnosis. Several therapeutic interventions were identified as beneficial, including behavioral and communication support. Caregivers expressed frustration and described high levels of stress and social isolation. The diagnosis of ASD in children with DS is often delayed, and caregivers' initial concerns are frequently dismissed. Raising a child with DS-ASD can lead to social isolation and elevated caregiver stress. More research is needed to tailor diagnostic algorithms and therapeutic interventions to the unique needs of this patient population. Caregivers yearn for improved understanding of DS-ASD, more targeted therapies and educational programs, and more overall support. [ABSTRACT FROM AUTHOR]

To discuss combinations of traditional screening and noninvasive prenatal screening (NIPS) and to compare which traditional screening is the most suitable first-line screening approach to NIPS, pregnant women were recruited in this retrospective observational study. Pregnant women underwent one of four traditional screening tests. The 9 contingent models were combined by high risk cut-offs of 1:50, 1:100, 1:270 and intermediate risk cut-offs of 1:1000, 1:1500, 1:2000. We analyzed cost and performance of various screening models with contingent screening of different risk cut-offs. Compared with other screening tests, combined first-trimester screening (CFTS) had the lowest proportion of high risk (≥1:270) with the highest detection rate (DR) (78.79%) and the lowest proportion of intermediate risk (1:271~1:1000). When intermediate risk was 1:51 ~1:1500, CFTS as first-line screening had the lowest cost with DR of 93.94%. Other screening tests as the first-line screening with intermediate risk of 1:51~1:1000 had the lowest cost, there DR were 90.91%, 84.62%, 91.67%, respectively. Our study demonstrated if only one traditional screening was allowed to screen pregnant women, CFTS was recommended as the first choice. According to local health and economic conditions, adopting appropriate traditional screening with suitable cut-offs as first-line screening will contributed to a cost-effective screening model. [ABSTRACT FROM AUTHOR]

Purpose: Children with Down's syndrome (DS) are prone to respiratory tract infections (RTIs) due to anatomical variation, immune system immaturity and comorbidities. However, evidence on RTI-related healthcare utilisation, especially in primary care, is incomplete. In this retrospective cohort study, we use routinely collected primary and secondary care data to quantify RTI-related healthcare utilisation in children with DS and matched controls without DS. Methods: Retrospective cohort study of 992 children with DS and 4874 matched controls attending English general practices and hospitals as identified in Clinical disease research using LInked Bespoke studies and Electronic health Records (CALIBER) from 1997 to 2010. Poisson regression was used to calculate consultation, hospitalisation and prescription rates, and rate ratios. Wald test was used to compare risk of admission following consultation. The Wilcoxon rank–sum test was used to compare length of stay by RTI type and time-to-hospitalisation. Results: RTI-related healthcare utilisation is significantly higher in children with DS than in controls in terms of GP consultations (adjusted RR 1.73; 95% CI 1.62–1.84), hospitalisations (adjusted RR 5.70; 95% CI 4.82–6.73), and antibiotic prescribing (adjusted RR 2.34; 95% CI 2.19–2.49). Two percent of children with DS presenting for an RTI-related GP consultation were subsequently admitted for an RTI-related hospitalisation, compared to 0.7% in controls. Conclusions: Children with DS have higher rates of GP consultations, hospitalisations and antibiotic prescribing compared to controls. This poses a significant burden on families. Further research is recommended to characterise healthcare behaviours and clinical decision-making, to optimise care for this at risk group. [ABSTRACT FROM AUTHOR]

Limited data are available on the survival of patients with Down syndrome and congenital heart disease (CHD) from middle-income countries. This retrospective cohort study was performed to determine the trends in the prevalence and survival of such patients born from January 2006 to December 2015 in Malaysia. Among 754 patients with Down syndrome, 414 (55%) had CHD, and no significant trend was observed during the 10 years. Of these 414 patients, 30% had lesions that closed spontaneously, 35% underwent surgery/intervention, 9% died before surgery/intervention, and 10% were treated with comfort care. The overall mortality rate was 23%, the median age at death was 7.6 months, and no significant changes occurred over time. The early and late post-surgery/intervention mortality rates were 0.7% and 9.0%, respectively. Most deaths were of non-cardiac causes. The overall 1-, 5-, and 10-year survival rates were 85.5%, 74.6%, and 72.9%, respectively. Patients with severe lesions, persistent pulmonary hypertension of the newborn, atrioventricular septal defect, and pulmonary hypertension had low survival at 1 year of age.Conclusion: The prevalence of CHD in patients with Down syndrome is similar between Malaysia and high-income countries. The lower survival rate is attributed to limited expertise and resources which limit timely surgery. What is Known: • The survival of patients with Down syndrome with congenital heart disease (CHD) has improved in high-income countries. However, little is known about the survival of patients with Down syndrome with CHD from middle-income countries. • In the Caucasian population, atrioventricular septal defect is the most common type of CHD associated with Down syndrome. What is New: • In middle-income countries, the prevalence of CHD is the same as in high-income countries, but with a lower survival rate. • In the Asian population, ventricular septal defect is the most common type of CHD in patients with Down syndrome. [ABSTRACT FROM AUTHOR]

Purpose: To perform a multicenter prospective study of ultrasound prenasal thickness (PT), and nasal bone length (NBL) measurement at 11-14 weeks' gestation.Methods: Ultrasound PT and NBL determination was performed in 504 normal fetuses and 17 fetuses with Down's syndrome (DS). Measurements were made from mid-sagittal 2D images acquired using a standardized technique during nuchal translucency (NT) examination. PT and NBL values were expressed in multiples of the gestation-specific normal median (MoM) and as the PT/NBL ratio. Information on PT and NBL MoMs was also combined using logistic regression. Results were classified as positive according to whether they were greater than the normal 95th centile for PT, PT/NBL and the DS risk from logistic regression equation or below the 5th centile for NBL.Results: The median value in DS cases and unaffected controls were: PT 1.26 and 0.996 MoM; and NBL 0.596 and 0.993 MoM. The proportion of DS fetuses with positive results was 41% for PT, 65% for NBL, and 82% for both the PT/NBL ratio and DS risk from the logistic regression equation. PT/NBL levels did not vary according to gestational age.Conclusion: The PT/NBL ratio is a valuable first trimester DS screening marker that can be easily determined concomitant with the NT measurement. [ABSTRACT FROM AUTHOR]

Purpose: Cognitive decline in Down syndrome generally shows neurodegenerative aspects similar to what is observed in Alzheimer’s disease. Few studies reported information on white matter integrity. The aim of this study was to evaluate white matter alterations in a cohort of young Down subjects, without dementia, by means of DTI technique, compared to a normal control group.Methods: The study group consisted of 17 right-handed subjects with DS and many control subjects. All individuals participating in this study were examined by MR exam including DTI acquisition (32 non-coplanar directions); image processing and analysis were performed using FMRIB Software Library (FSL version 4.1.9, http://www.fmrib.ox.ac.uk/fsl)) software package. Finally, the diffusion tensor was estimated voxel by voxel and the FA map derived from the tensor. A two-sample t test was performed to assess differences between DS and control subjects.Results: The FA is decreased in DS subjects, compared to control subjects, in the region of the anterior thalamic radiation, the inferior fronto-occipital fasciculum, the inferior longitudinal fasciculum, and the cortico-spinal tract, bilaterally.Conclusions: The early white matter damage visible in our DS subjects could have great impact in the therapeutic management, in particular in better adapting the timing of therapies to counteract the toxic effect of the deposition of amyloid that leads to oxidative stress. [ABSTRACT FROM AUTHOR]

Children with autism spectrum disorder (ASD) or with Down syndrome (DS) show diagnosis-specific differences from typically developing (TD) children in gesture production. We asked whether these differences reflect the differences in parental gesture input. Our systematic observations of 23 children with ASD and 23 with DS (Mages = 2;6)—compared to 23 TD children (Mage = 1;6) similar in expressive vocabulary—showed that across groups children and parents produced similar types of gestures and gesture-speech combinations. However, only children—but not their parents—showed diagnosis-specific variability in how often they produced each type of gesture and gesture-speech combination. These findings suggest that, even though parents model gestures similarly, the amount with which children produce each type largely reflects diagnosis-specific abilities. [ABSTRACT FROM AUTHOR]

Prenatal aneuploidy screening changed significantly in 2012 when cell-free fetal deoxyribonucleic acid (DNA) was introduced as a noninvasive prenatal test. A noninvasive prenatal test detects cell free fragments of fetal DNA from the placenta circulating in maternal blood that coexist with cell-free DNA (cfDNA) of maternal origin. Using next-generation sequencing, the noninvasive prenatal test compares maternal and fetal cfDNA ratios for chromosomes of interest (i.e., 21, 18, 13, X, and Y) to assess chromosomal aneuploidy. Compared to traditional screening using ultrasound and serum markers, the noninvasive prenatal test has superior test characteristics, including a higher detection rate and positive predictive value, and a lower false-positive rate. The noninvasive prenatal test is already used for primary screening in high-risk women and is rapidly expanding to all women. Given its increasing use, understanding the noninvasive prenatal test's limitations is critical. Discordant results (i.e. noninvasive prenatal test is positive for aneuploidy with a normal fetal karyotype) can occur because of biological processes such as aneuploidy confined to the placenta, a vanished twin, maternal aneuploidy or maternal cancer. Use of the noninvasive prenatal test for screening beyond the most common aneuploidies is not recommended. The noninvasive prenatal test is a major advance in prenatal aneuploidy screening but it is not diagnostic and does not replace invasive testing (i.e. chorionic villous sampling or amniocentesis) for confirmation of fetal chromosomal disorders. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

In this article I investigate the ways in which phenomenology could guide our views on the rights and/or wrongs of abortion. To my knowledge very few phenomenologists have directed their attention toward this issue, although quite a few have strived to better understand and articulate the strongly related themes of pregnancy and birth, most often in the context of feminist philosophy. After introducing the ethical and political contemporary debate concerning abortion, I introduce phenomenology in the context of medicine and the way phenomenologists have understood the human body to be lived and experienced by its owner. I then turn to the issue of pregnancy and discuss how the embryo or foetus could appear for us, particularly from the perspective of the pregnant woman, and what such showing up may mean from an ethical perspective. The way medical technology has changed the experience of pregnancy-for the pregnant woman as well as for the father and/or other close ones-is discussed, particularly the implementation of early obstetric ultra-sound screening and blood tests (NIPT) for Down's syndrome and other medical defects. I conclude the article by suggesting that phenomenology can help us to negotiate an upper time limit for legal abortion and, also, provide ways to determine what embryo-foetus defects to look for and in which cases these should be looked upon as good reasons for performing an abortion. [ABSTRACT FROM AUTHOR]

We assessed the dynamics in the prevalence of children with congenital heart disease (CHD) and Down syndrome in Germany with regard to phenotype, severity, and gender. Data from patients with CHD and Down syndrome born between 1980 and 2014 were analyzed, who are registered with the German National Register for Congenital Heart Defects. One thousand six hundred eighteen CHD patients with Down syndrome were identified. The prevalence of children born with both Down syndrome and CHD was constant from 2005 to 2009 but increased from 2010 to 2014. Regarding CHD groups, complex and simple lesions have become more equal since 2005. The number of simple lesions with shunt has a peak prevalence in the period of 2010-2014. Atrioventricular septal defect was the most common CHD phenotype, but temporal changes were found within the group of CHD phenotypes over the observation period.Conclusion: Our findings suggest a growing number of CHD and Down syndrome, which may be the result of improved medical management and progress in educational, social, and financial support. This development is noteworthy as it adds new aspects to present discussions in the media and political settings. What is known: • Congenital heart disease is regarded to be the most important clinical phenomenon in children with Down syndrome, due to its significant impact on morbidity and mortality. • New developments in prenatal diagnostic and therapy management of congenital heart disease continue to influence the number of patients diagnosed with congenital heart disease and Down syndrome. What is New: • This study provides essential data giving the first overview of the dynamics in the prevalence of congenital heart disease and Down syndrome over an extended length of time up to 2015 in a large patient cohort, taking recent developments into account. • Our data suggest a growing prevalence of congenital heart disease and Down syndrome, which may be the result of improved medical management for Down syndrome patients and progress in educational, social, and financial support for their families; this development is noteworthy as it adds new aspects to the present discussion in the media and political settings. [ABSTRACT FROM AUTHOR]

Purpose: Non-invasive prenatal tests (NIPT) for the determination of fetal aneuploidies from maternal blood are firmly established in clinical routine. For the first time, the accuracy of an NIPT for the determination of trisomies 21, 18 and 13 in singleton pregnancies was assessed by means of a prospective German-wide multicenter post-market clinical follow-up study, to reliably evaluate the quality in clinical routine.Methods: The study covered the indications for testing, the test results, the rate of invasive diagnostics and the pregnancy outcome. 2232 cases were tested for trisomy 21. Of these, 1946 cases were additionally examined for trisomy 18 and 13.Results: Sensitivity and specificity for trisomy 21 (43/43) and for trisomy 13 (2/2) were 100%, for trisomy 18 the sensitivity was 80% (4/5) with a specificity of 99.8%. Three false-positive results for trisomy 18 were observed (FPR 0.15%). The no-call rate was 0.5%. In this subgroup, 27.3% (3/11) aneuploidies were diagnosed. The rate of invasive procedures was 2.6%.Conclusion: NIPT provides a very high quality for the fetal trisomies 21, 13 and 18 in clinical routine. The results support the recommendation that NIPT should be offered after genetic counseling and only in conjunction with a qualified ultrasound examination. [ABSTRACT FROM AUTHOR]

Purpose: First trimester risk assessment for chromosomal abnormalities plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s, when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and it is often combined with a cell-free DNA (cfDNA) analysis as a secondary test.Methods: A search of the Medline and Embase databases was done looking for articles about first trimester aneuploidy screening. We performed a detailed review of the literature to evaluate the screening tests currently available and their respective test performance.Results: Combined screening for trisomy 21 based on maternal age, fetal NT, and the serum markers free beta-hCG and PAPP-A results in a detection rate of about 90% for a false positive of 3-5%. With the addition of further ultrasound markers, the false positive rate can be roughly halved. Screening based on cfDNA identifies about 99% of the affected fetuses for a false positive rate of 0.1%. However, there is a test failure rate of about 2%. The ideal combination between combined and cfDNA screening is still under discussion. Currently, a contingent screening policy seems most favorable where combined screening is offered for everyone and cfDNA analysis only for those with a borderline risk result after combined screening.Conclusion: Significant advances in screening for trisomy 21 have been made over the past 2 decades. Contemporary screening policies can detect for more than 95% of affected fetuses for false positive rate of less than 3%. [ABSTRACT FROM AUTHOR]

Objectives: To provide an initial assessment of white matter (WM) integrity with diffusion tensor imaging (DTI) and the accompanying volumetric changes in WM and grey matter (GM) through volumetric analyses of young children with Down's syndrome (DS).Methods: Ten children with DS and eight healthy control subjects were included in the study. Tract-based spatial statistics (TBSS) were used in the DTI study for whole-brain voxelwise analysis of fractional anisotropy (FA) and mean diffusivity (MD) of WM. Volumetric analyses were performed with an automated segmentation method to obtain regional measurements of cortical volumes.Results: Children with DS showed significantly reduced FA in association tracts of the fronto-temporo-occipital regions as well as the corpus callosum (CC) and anterior limb of the internal capsule (p < 0.05). Volumetric reductions included total cortical GM, cerebellar GM and WM volume, basal ganglia, thalamus, brainstem and CC in DS compared with controls (p < 0.05).Conclusion: These preliminary results suggest that DTI and volumetric analyses may reflect the earliest complementary changes of the neurodevelopmental delay in children with DS and can serve as surrogate biomarkers of the specific elements of WM and GM integrity for cognitive development.Key Points: • DS is the most common genetic cause of intellectual disability. • WM and GM structural alterations represent the neurological features of DS. • DTI may identify the earliest aging process changes. • DTI-volumetric analyses can serve as surrogate biomarkers of neurodevelopment in DS. [ABSTRACT FROM AUTHOR]

Adults with Down syndrome (DS) are at a very high risk of developing early onset Alzheimer's disease (AD) due to trisomy of chromosome 21. AD is preceded by a prolonged prodromal 'pre-clinical' phase presenting with clinical features that do not fulfil the diagnostic criteria for AD. It is important to clinically characterise this prodromal stage to help early detection of the disease as neuropathology of AD is almost universal by the fifth decade in DS. There is a lack of knowledge of the trajectory of decline associated with the onset of dementia in this population and early signs may be overlooked or misdiagnosed, negatively affecting the quality of life of those affected and the use of early pharmacological or psychosocial interventions. The objective of this systematic review is to evaluate the published literature on longitudinal data in order to identify the cognitive and behavioural changes occurring during the prodromal and early stages of AD in this population. Fifteen peer-reviewed articles met the inclusion criteria, including a total number of 831 participants, with the duration between baseline and follow up varying from 1 year to 47 years. Results suggest that, compared to the general population for which short-term (episodic) memory loss is the most common indicator associated with the onset of AD, in people with DS, executive dysfunction and Behavioural and Psychological Symptoms of Dementia (BPSD) are commonly observed during pre-clinical and early stages and may precede memory loss. The review highlights the importance of using a broad spectrum of assessments in the context of heterogeneity of symptoms. Theoretical and practical implications are discussed, as well as the need for further research. [ABSTRACT FROM AUTHOR]

Objective: Cell free DNA (cfDNA) testing has evolved as an important tool in prenatal screening for trisomy 21. It can also be used in screening for monosomy X. We perform a systemic review to determine the detection and false positive in screening for monosomy X and demonstrate a case that offers two possible explanations for the lower screening performance compared to trisomy 21.Case: A 31-year-old primigravida was referred to us due to an abnormal cfDNA test indicating monosomy X. However, the genitalia was male. An amniocentesis was done that indicated 46,X,idic(Y)(q11.21). SNP array analysis confirmed the Ypter-q11.21 duplication. A phenotypically normal male baby was born at 40 weeks. Postnatal karyotyping of several pregnancy tissues was carried out. While in most samples the karyotype was 46,X,idic(Y)(q11.21), in the four placenta samples and in the amniotic membranes there was mosaicism of 46,X,idic(Y)(q11.21) and 45,X.Data Sources: A search of the Medline and Embase database was done for articles about screening for monosomy X by cfDNA. We performed a systematic review to assess the detection and false-positive rate.Results: Seven studies fulfilled the inclusion criteria. In summary, there were 153 pregnancies with monosomy X and 4116 euploid ones. The detection and false-positive rate was 94.1 and 0.53 %.Conclusion: Although the performance of cfDNA in prenatal screening for monosomy X is better than any other screening test, it is not comparable with invasive testing. One should be aware of the limitations especially if the ultrasound examination is contradictory with the cfDNA results. [ABSTRACT FROM AUTHOR]

Down syndrome is the most common chromosomal abnormality among live born infants reaching up to 1 in 700 births and is characterized by a variety of dysmorphic features and medical conditions. The potential to reach their full developmental capacities can be hindered by ear, nose, and throat problems. Hence, knowledge of the various anatomic peculiarities that predispose them to various medical conditions is fundamental. The medical states resulting from these variations and suggested treatment options are reviewed. Such conditions include refractory otitis, eustachian tube dysfunction, laryngomalacia, tracheal stenosis, obstructive sleep apnea, hearing loss, and voice and articulatory impairments. This review revisits besides the otolaryngeal pathologies, special medical considerations in Down's syndrome patients that might affect surgical outcomes used in the management of the above pathologies. [ABSTRACT FROM AUTHOR]

Down syndrome, or trisomy 21, is the most common chromosomal anomaly and is characterized by intellectual disability and a typical facies. People with Down syndrome can have abnormalities of multiple organ systems. Cardiac and respiratory system involvement is the most common cause of morbidity and mortality, although every organ system can be affected. Patients may present prenatally with findings on screening sonography. If the diagnosis is not made prenatally, it is apparent at birth because of the characteristic facial features and musculoskeletal findings. Children with Down syndrome present to the radiology department at various ages depending on the severity of the specific finding. The purpose of this paper is to review the most common antenatal and postnatal imaging findings of Down syndrome as they manifest throughout the body. [ABSTRACT FROM AUTHOR]

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The trials performed worldwide toward noninvasive prenatal diagnosis (NIPD) of Down's syndrome (or trisomy 21) have shown the commercial and medical potential of NIPD compared to the currently used invasive prenatal diagnostic procedures. Extensive investigation of methylation differences between the mother and the fetus has led to the identification of differentially methylated regions (DMRs). In this study, we present a strategy using the methylated DNA immunoprecipitation (MeDiP) methodology in combination with real-time quantitative PCR (qPCR) to achieve fetal chromosome dosage assessment, which can be performed noninvasively through the analysis of fetal-specific DMRs. We achieved noninvasive prenatal detection of trisomy 21 by determining the methylation ratio of normal and trisomy 21 cases for each tested fetal-specific DMR present in maternal peripheral blood, followed by further statistical analysis. The application of this fetal-specific methylation ratio approach provided correct diagnosis of 14 trisomy 21 and 26 normal cases. [ABSTRACT FROM AUTHOR]

Introduction: The concept of first trimester Down syndrome screening based on (NT) nuchal translucency measurement was introduced by the Fetal Medicine Foundation (FMF), London, in the late 1990s. For Germany, the mandate of NT training and auditing was assigned to the newly established German branch of the FMF in 2002. In January 2007, following the organisational split between FMF London and FMF Germany, the FMF Germany released its own, novel calculation software ("Prenatal risk calculation", PRC), for this field. It is the aim of this study to compare the modified biochemical calculation method based on "Degree of Extremeness" (DoE) with the well-proven concept of "Multiple of Median" (MoM). Materials and Methods: The fbeta-hCG and PAPP-A values of 266 first trimester examinations were categorised by gestational age, nicotine consumption and body weight. For each, a scatter plot and Pearson correlation was derived. As a second step, only patients with no nicotine consumption and a body weight between 55 and 65 kg were considered. The remaining 84 cases were again classified by gestational age and a statistical analysis was performed. Results: The correlation of the DoEs with the respective MoM values was found to be quite good (r = 0.76, P < 0.01). After dividing the population by gestational age, the cohort of early pregnancies showed a steeper fss-hCG correlation curve than later stages. The examination regarding nicotine consumption showed no significant differences between smokers and non-smokers. In contrast, maternal body weight was found to have a marked influence. When only body weights between 55 and 65 kg were included and smokers were excluded, the Pearson correlations clearly converged. Discussion: In this study, the utilisation of DoEs instead of MoMs was not clearly superior but it also did not seem to be inappropriate. However, it is most problematic to ignore evidently meaningful factors like body weight and ethnicity. It must also be considered risky to introduce a new calculation software to the market, when it is not clear whether the test performance is in fact comparable to established software concepts, especially in view of the fact that not only a new (unproven) database, but also a new (again unproven) algorithm is used in the PRC software. As the new program has not been evaluated yet, the test performance parameters should be validated urgently. [ABSTRACT FROM AUTHOR]

The current trend in prenatal diagnosis is that trisomy screening is being moved to the first trimester and ultrasonographic nuchal translucency measurement is included in risk calculation. It is likely that biochemical screening in the second trimester will gradually be given up. In Eastern and Northern Finland, during the year 1999 we offered first-trimester ultrasonographic and serum screening for trisomy 21, with measurements of maternal serum PAPP-A and β-hCG. A total of 2515 pregnant women participated in the screening, yielding the detection of eight foetuses with Down's syndrome. Six affected foetuses (75%) were detected by means of first-trimester serum screening. Since we were in the phase of collecting data for the Finnish medians for PAPP-A and β-hCG, the women were not given the estimates of risk for trisomy 21. Only 1602 of the 2515 enrolled women had the combination of first-trimester ultrasonographic and serum screening performed, and in that group there were five foetuses with Down's syndrome. The combination ultrasonographic and serum approach yielded a Down's syndrome detection rate of 80% (four out of five) with a 5% false positive rate, whereas in nuchal translucency based-screening the detection rate was 60%, with a 5% false positive rate. [ABSTRACT FROM AUTHOR]

This study examined the effects of the child's diagnosis (autism vs. Down syndrome), age, and current educational placement on parental perceptions toward inclusion for their child with disabilities. Parents of children with autism and with Down syndrome completed surveys regarding their opinions on their child's current educational placement, their desire for changing the current placement, and their views on inclusive education. Results indicated that diagnosis, age, and current placement influenced parental opinion on the ideal educational placement for their child. Parents of children with Down syndrome were significantly more likely to endorse inclusion (full-time placement in general education) as the ideal educational program for their child whereas parents of children with autism were more likely to endorse mainstreaming (consistent part-time placement with general education students). Parents of younger children and parents whose children were already placed in general education programs were more positive towards inclusion than parents of older children or students currently in special education. Findings are discussed in terms of child characteristics and prevailing educational practices. [ABSTRACT FROM AUTHOR]

The frequency of Down syndrome in Libya was 1 in 516 live births. The mean age of Down mother was 35.62 years. Eighty two percent of the Down mothers were over 30 years of age as compared to 36% of the control Libyan mothers. As there was a greater percentage of late conceptions, the maternal age appears to be influential in the birth of Down syndrome in Libya. Cytogenetically 96% of the cases were that of trisomy 21. There was one case each of mosaic and 21/21 translocation, and four cases of 14/21 translocation as evidenced by Giemsa banding. Twenty two percent of the cases of Down syndrome also had other associated congenital abnormalities. The unique features involved in genetic counselling in this population are discussed. This study reflects the enormous problem of Down syndrome in the Arab world. [ABSTRACT FROM AUTHOR]

The article discusses the prospective study which focuses on cell-free DNA (cfDNA) screening for trisomy 21 (Down syndrome). It examines the cfDNA analysis for noninvasive examination of trisomy among unselected pregnant women. It notes that cfDNA screening methods offer high specificity and sensitivity in the detection of trisomy 21.

The article offers the insights of several professionals on the implications of a study by Rossa Chiu and colleagues concerning the noninvasive prenatal assessment of trisomy 21 or Down syndrome. Professor Stephen R. Quake states that the study was semiblinded and semiprospective, but represents valuable data such as the large number of patients. Nicholas J. Wald of Queen Mary University says that a false-positive rate of 2.1% for a diagnostic test shown in the study is unacceptable.

The article presents medicine news briefs. Topics discussed include the Jan Aushadhi Campaign launched by the Department of Pharmaceuticals which allows generic industry in India to offer and supply affordable medicines worldwide, the study regarding the accuracy of the Non-invasive Prenatal Testing (NIPT) for Down syndrome among pregnant mothers, and the randomized open label trial which reveals the efficacy of cholera vaccine Shanchol in reducing the rates of cholera in Bangladesh.

The article focuses on research data concerning a non-invasive prenatal screen for Down's syndrome. It states that Harry Stylli, chief executive of the genetic diagnostics company Sequenom, said on April 29, 2009 that four employees suspected of mishandling data had been suspended and that an investigation of the matter is underway by an independent committee. It mentions the test is an alternative to more invasive methods like amniocentesis.