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Syndrome Screening (syndrome + screening)
Kinds of Syndrome Screening Selected AbstractsScreening for dyslexia, dyspraxia and Meares-Irlen syndrome in higher educationDYSLEXIA, Issue 1 2009S. A. Nichols Abstract This study reports a comparison of screening tests for dyslexia, dyspraxia and Meares-Irlen (M-I) syndrome in a Higher Education setting, the University of Worcester. Using a sample of 74 volunteer students, we compared the current tutor-delivered battery of 15 subtests with a computerized test, the Lucid Adult Dyslexia Screening test (LADS), and both of these with data on assessment outcomes. The sensitivity of this tutor battery was higher than LADS in predicting dyslexia, dyspraxia or M-I syndrome (91% compared with 66%) and its specificity was lower (79% compared with 90%). Stepwise logistic regression on these tests was used to identify a better performing subset of tests, when combined with a change in practice for M-I syndrome screening. This syndrome itself proved to be a powerful discriminator for dyslexia and/or dyspraxia, and we therefore recommend it as the first stage in a two-stage screening process. The specificity and sensitivity of the new battery, the second part of which comprises LADS plus four of the original tutor delivered subtests, provided the best overall performance: 94% sensitivity and 92% specificity. We anticipate that the new two-part screening process would not take longer to complete. Copyright © 2008 John Wiley & Sons, Ltd. [source] First-trimester Down syndrome screening in women younger than 35 years old and cost-effectiveness analysis in Taiwan populationJOURNAL OF EVALUATION IN CLINICAL PRACTICE, Issue 5 2009Ching-Yu Chou MD Summary Objectives, Outcome of the first-trimester Down syndrome screening in younger population was less reported before. We present the outcome of this screening in Taiwanese women younger than 35 years old. We also test whether or not the first-trimester Down syndrome screening of women <35 years of age and women >35 years old routinely receiving amniocentesis is cost-effective compared with all pregnant women screened with this test in the setting of increased maternal age. Methods, From 1999 to 2007, the first-trimester Down syndrome screening including nuchal thickness, pregnancy-associated plasma protein A and free ,-hCG are provided to 10 811 singleton women <35 years of age with the cut-off of 1/270. A cost-effectiveness analysis of young women receiving this screening and older women undergo amniocentesis versus all women undergo this screening was performed in Taiwan population from 1987 to 2006, in which advanced age pregnancies increased from 2.8% to 11.6% of total pregnancies. Results, Detection rates of trisomy 21, trisomy 18, Turner syndrome and other chromosome anormalies in women <35 years of age are 87.5% (14/16), 50% (2/4), 80% (8/10) and 63% (12/19), respectively, with a false-positive rate of 5.5% (590/10 811). As advanced age pregnancies reached 11.6%, the average cost per one case averted for all women screened ranged from $77 204 to $98 421, while the cost ranged from $99 647 to $116 433 for only women <35 years of age receiving this screening. Conclusions, In an aging population, the first-trimester Down syndrome screening should be implemented for all pregnant women when it is available. [source] Down syndrome screening using first-trimester combined tests and contingent use of femur length at routine anomaly scanPRENATAL DIAGNOSIS, Issue 8 2010Laurent J. Salomon Abstract Objective The objective of this study was to evaluate the performance of the contingent use of femur length (FL) at routine mid-trimester scan in screening for Down syndrome (DS) in women having previously undergone first-trimester screening with disclosure of risk estimates. Methods Data from a prospective screening trial for DS in a population of 21 492 women with 80 observed DS were used. The performance of a contingent screening strategy based on adding short FL (FL < 5th percentile) as a soft marker in women at intermediate first-trimester risks was evaluated through simulated data. Results In our population, the median (25th,75th percentile) maternal age was 30.7 years (28.0,33.9; range: 18.0,46.3). The median (25th,75th percentile) gestational age at ultrasound examination was 12 weeks 3 days (12 weeks and 12 weeks 6 days; range: 11 weeks to 13 weeks 6 days). Contingent screening allowed an improvement in screening performance. For example, using a first-trimester risk cut-off of 1/100 and an intermediate-risk population within (1/1000, 1/100) for the search of FL, a sensitivity (Se) of 88.4% at a 3% false-positive rate (FPR) was reached. With a cut-off of 1/200 and an intermediate-risk population within (1/1000, 1/200), screening would allow an Se of 92.3% at a 4% FPR. Conclusions Contingent screening could be used following first-trimester combined screening followed by second-trimester ultrasound soft markers. This could identify indications for early invasive testing in the highest risk cases and would allow efficient and simple ultrasound-based screening in the second trimester. This would provide an 88.4% Se for a 3% FPR, at no additional cost as compared to first-trimester combined screening and routine mid-trimester scan. Copyright © 2010 John Wiley & Sons, Ltd. [source] Early onset preeclampsia and second trimester serum markersPRENATAL DIAGNOSIS, Issue 12 2009Geralyn M. Lambert-Messerlian Abstract Objective To examine serum markers measured in the second trimester to identify women who subsequently develop preeclampsia. Methods Clinically defined preeclampsia was confirmed in 45 women who had provided a serum sample as part of Down syndrome screening. Preeclampsia was categorized as mild or severe, as well as early (<32 weeks) or late onset. Each case was matched with five controls based on gestational age and date of serum collection. Stored sera were retrieved and tested for inhibin A, soluble vascular endothelial growth factor receptor 1 (sVEGF R1), placental growth factor (PlGF), and endoglin. Results were converted to multiples of the median (MoM) and compared in case and control pregnancies. Univariate analysis was used to identify the strongest markers, which were then used in a multivariate model. Results Inhibin A, PlGF, and endoglin were consistently associated with preeclampsia, especially for early onset disease. A multivariate model using the three markers could identify 50% of the pregnancies with early onset preeclampsia with a 2% false positive rate. Conclusion The levels of inhibin A, PlGF, and endoglin in the second trimester can be combined using a predictive model to provide individualized risk estimates for early onset preeclampsia. Copyright © 2009 John Wiley & Sons, Ltd. [source] Sequential and contingent prenatal screening for Down syndromePRENATAL DIAGNOSIS, Issue 9 2006Nicholas J Wald Abstract Objective To compare the Integrated test in three policies for prenatal Down syndrome screening: Integrated screening for all women, sequential screening (first-trimester tests allowing early completion of screening for high-risk pregnancies), and Contingent screening (early completion of screening for high- and low-risk pregnancies). Design and Methods Estimation of detection rates (DRs) and false-positive rates (FPRs) using Monte Carlo simulation and cost effectiveness for each method. Setting and Population Down syndrome affected and unaffected pregnancies studied in the Serum Urine and Ultrasound Screening Study (SURUSS). Results and Main Outcomes Integrated screening has the best screening performance. The performance of the other two policies approached that of Integrated screening as the first-trimester test FPR decreased. If the first-trimester FPR is set to 0.5% (risk , 1 in 30) with an overall DR of 90%, sequential and contingent screening yield overall FPRs of 2.25% and 2.42%, respectively, and 66% of the affected pregnancies are detected by the first-trimester test. The Integrated test on all women yields an FPR of 2.15%. With sequential screening, 99.5% of women would proceed to an Integrated test, or 30% with contingent screening if those with first-trimester test risks of ,1 in 2000 are classified screen-negative and receive no further testing. About 20% of affected pregnancies identified in the first trimester using sequential or contingent screening would have unnecessary terminations (they would miscarry before the early second trimester). Contingent screening is the most cost-effective if there is no alphafetoprotein screening for neural tube defects, otherwise Integrated screening is more cost-effective. Conclusions Integrated screening for all women is the simplest, most effective, and the safest policy. Contingent screening is the most complex with the lowest screening performance. Making an earlier diagnosis with sequential and contingent screening has adverse consequences that are sufficient to discourage their use. Copyright © 2006 John Wiley & Sons, Ltd. [source] Women's opinions on the offer and use of nuchal translucency screening for Down syndromePRENATAL DIAGNOSIS, Issue 2 2006Moira A. Müller Abstract Objective To study the attitude of Dutch women to the offer and subsequent (non)use of nuchal translucency (NT) screening for Down syndrome in the first trimester of pregnancy, in a country where screening is not routinely offered under 36 years of age. Methods An experimental NT screening programme offered to pregnant women, together with a series of questionnaires to be completed before and after the offer and (non)use of screening, in 12 midwife practices in three different health districts. Participants Cohort of pregnant women who had their first prenatal care visit in the participating midwife practices between 1 June 1999 and 1 January 2001. Main Outcome Measures Women's knowledge and understanding of prenatal screening tests; attitude towards screening offer; perceived freedom of choice; satisfaction with information given; change in attitude over time. Results Eighty-six percent of women accepted the offer of NT screening. Seventy percent had previous knowledge of NT screening and 92% considered the information given before screening clear and sufficient. Thirty-nine percent of women felt worried to some extent after being given the information, but only 3% would have preferred not to have been informed at all. Ninety percent of women (including 68% of decliners) agree that information on Down syndrome screening should be extended to all pregnant women and feel competent in deciding on screening participation. Conclusion When NT screening is offered as a new screening strategy its concept is understood and well accepted. The large majority of women, including the decliners, are in favour of its standard offer. Copyright © 2006 John Wiley & Sons, Ltd. [source] Nuchal translucency measurement at different crown-rump lengths along the 10- to 14-week period for Down syndrome screeningPRENATAL DIAGNOSIS, Issue 5 2005Maria A. Zoppi Abstract Objectives To evaluate the screening accuracy for Down syndrome of nuchal translucency (NT) measurement at different crown-rump length (CRL) subgroups along the 10- to 14-week period. Methods NT was classified ,enlarged' if greater than or equal to 1.5 and 2.0 multiples of the regressed median. Accuracies for Down syndrome (formula = [(TP + TN)/(TP + TN + FP + FN)] × 100, where TP: true positive, TN: true negative, FP: false positive, FN: false negative) were evaluated in four classes of CRL: 38,44 mm, 45,54 mm, 55,70 mm, and 71,84 mm, and compared. Results Of 20 743 fetuses, 20 611 were with no chromosomal abnormalities and 132 were with Down syndrome. Down syndrome fetuses with enlarged NT were 99 (greater than or equal to 1.5 MoM) and 86 (greater than or equal to 2.0 MoM). Sensitivity decreased with gestation, while specificity increased, resulting in increasing likelihood ratios with gestation for each of the CRL groups (8.1, 14.1, 16.3, 17.1 with the use of the 1.5 MoM cut-off, and 13.2, 27.1, 50.1, 84.1 for the 2.0 MoM cut-off). The accuracy increased with gestation (89%, 95%, 95%, 96% with the use of the 1.5 MoM cut-off, and 94%, 97%, 98%, 99% for the 2.0 MoM cut-off, for each of the CRL groups), differences being statistically significant between periods in half of the comparisons. Conclusions Although sensitivity of NT assessment for Down syndrome screening decreased as gestation advanced from the 10th to the 14th week, accuracy showed a remarkable increase. These changes should be taken into account in defining and improving the Down syndrome screening policies. Copyright © 2005 John Wiley & Sons, Ltd. [source] Association between fetal nuchal translucency thickness in first trimester and subsequent gestational hypertension and preeclampsiaPRENATAL DIAGNOSIS, Issue 9 2002Ming-Song Tsai Abstract Increased fetal nuchal translucency (NT) in the first trimester is associated with adverse pregnancy outcomes. Whether the increased NT is also associated with an increased frequency of pregnancy-associated hypertension (PAH) is not known. Seven hundred and seventy-nine pregnant women who received NT-based Down syndrome screening and delivered their babies at our hospital by September 2000 were enrolled into this study. Among these women, there are 46 cases of preeclampsia, 68 cases of gestational hypertension (GH); 665 women without any adverse pregnancy outcomes served as controls. Correlation analysis demonstrated that NT MoM (multiples of median) level had a positive association with maternal diastolic blood pressure at the time of admission for delivery (r = 0.104; p < 0.01). The severity of PAH was concordant with the stepwise increase of mean NT MoM level, which was 0.88 in control, 1.07 in gestational hypertension, and 1.13 in preeclampsia (p < 0.001). Using the 95th (1.52 MoM) and 90th (1.31 MoM) percentiles of NT thickness as cut-offs, the sensitivities and odds ratios of the women at risk for developing GH after 20 weeks of gestation were 8.8%, 19.1% and 1.98, 2.15 respectively, while for preeclampsia were 10.9%, 28.3% and 2.49, 3.58 respectively. It is concluded that the pathological changes in the placenta responsible for the development of PAH may also influence the physiological decrease of NT thickness in late first trimester. However, the sensitivity of fetal NT measurement in first trimester is not sufficient as a single marker for predicting the pregnant women at risk for subsequent PAH. Copyright © 2002 John Wiley & Sons, Ltd. [source] First trimester screening for Down syndrome and assisted reproduction: no basis for concernPRENATAL DIAGNOSIS, Issue 7 2001K. R. Wøjdemann Abstract In pregnancies obtained after assisted reproduction the false-positive rate of second trimester Down syndrome (DS) screening is increased by 1.5,3-fold. This may cause an increase in the number of amniocenteses and the fetal loss rate. The present study for the first time examined whether assisted reproductive technologies affect the results of first trimester screening. The markers PAPP-A, free ,-hCG and the nuchal translucency (NT) thickness were examined at 12,14 weeks' gestation. Screening markers in 47 in vitro fertilisation (IVF), 63 ovulation induction (OI) and 3026 spontaneously conceived singleton pregnancies were compared. The MoM (multiples of the median) value in the IVF pregnancies was 1.02 (95% CI: 0.85,1.22) for PAPP-A, 1.14 (95% CI: 0.95,1.37) for ,-hCG and 0.97 (95% CI: 0.89,1.05) for NT; the MoM value in the OI pregnancies was 0.89 (95% CI: 0.76,1.05) for PAPP-A, 1.08 (95% CI: 0.93,1.25) for ,-hCG and 1.02 (95% CI: 0.95,1.11) for NT. The first trimester marker values in assisted reproductive pregnancies and spontaneously conceived pregnancies were not significantly different. Estimated false-positive rates for a risk cut-off of 1:400 varied from 4.7% in IVF pregnancies to 5.1% in OI pregnancies. Therefore the false-positive rate in Down syndrome screening should be independent of the method of conception. Copyright © 2001 John Wiley & Sons, Ltd. [source] Models with Errors due to Misreported MeasurementsAUSTRALIAN & NEW ZEALAND JOURNAL OF STATISTICS, Issue 4 2003Brent Henderson Summary Measurement error and misclassification models feature prominently in the literature. This paper describes misreporting error, which can be considered to fall somewhere between these two broad types of model. Misreporting is concerned with situations where a continuous random variable X is measured with error and only reported as the discrete random variable Z. Data grouping or rounding are the simplest examples of this, but more generally X may be reported as a value z of Z which refers to a different interval from the one in which X lies. The paper discusses a method for handling misreported data and draws links with measurement error and misclassification models. A motivating example is considered from a prenatal Down's syndrome screening, where the gestational age at which mothers present for screening is a true continuous variable but is misreported because it is only ever observed as a discrete whole number of weeks which may in fact be in error. The implications this misreporting might have for the screening are investigated. [source] Pregnancy outcome in the setting of extremely low first trimester PAPP-A levelsAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2009Fergus SCOTT Background: Serum pregnancy-associated plasma protein-A (PAPP-A) is part of first trimester Down syndrome screening. Low levels have been associated with adverse outcome as well as chromosomal abnormality. Aims: To assess the incidence of adverse outcome when PAPP-A levels are at or below 0.2 multiples of the median (MoM). Methods: Data on consecutive patients attending a first trimester screening program were collected. Those with PAPP-A levels , 0.2 MoM were divided into three groups: , 0.1 MoM; 0.11,0.15 MoM; and 0.16,0.2 MoM. Results: Screening 44 535 patients resulted in 197 with PAPP-A levels , 0.2 MoM. The incidence of karyotypic abnormality increased with decreasing PAPP-A levels. In the absence of chromosome abnormality, pregnancy outcomes were defined as ,normal' in at least 30% and ,good' in at least 60%, with both percentages increasing as the PAPP-A level rose. The PAPP-A levels were significantly lower in the group with a poor outcome. The incidence of prematurity was similar in the three groups, but higher than the statewide average, while the incidence of extreme prematurity appeared to be related to reducing PAPP-A levels. The incidence of growth restriction in the three groups was similar, but was still double the incidence in the normal population. Conclusion: If the PAPP-A level is , 0.2 MoM and the karyotype is normal, there is an increased risk of adverse outcome. Even with PAPP-A below 0.1 MoM, a good outcome can be expected in 60% of cases. Careful morphological assessment is suggested and later monitoring of fetal growth and well-being. [source] Maternal serum screening for Down syndrome: are women's perceptions changing?BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 4 2007M Gidiri Objectives, To document trends in serum screening for Down's syndrome. Background, Trends in the uptake of serum screening for Down syndrome have not been documented in a UK population. Design, A retrospective review of the rate of uptake in a unit that has offered serum screening for Down syndrome to all pregnant women. Setting, A large north of England hospital that has offered universal Down syndrome screening using the ,triple test' since 1992. Patients, A total of 47 998 women who booked for antenatal care. Main outcome measures, Uptake of serum screening for Down syndrome. Methods, The results of the screening programme were contemporaneously recorded on a computer database, and the study team accessed the data. Results, There was a significant reduction in the uptake of serum screening for Down syndrome from a maximum of 82.6% in 1993 to 41.4% in 2005. There was a significant but small trend upwards in the age of women accepting screening and also a significant trend in the increase in the screen-positive rates. Conclusions, The reduction in uptake of Down syndrome screening over the past 13 years must be taken into account when planning a screening programme. Other units should be encouraged to review their rate of uptake to determine if our data are representative of a wider trend. [source] | ||||||||||