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Screening Marker (screening + marker)

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Medical Sciences	25%

Selected Abstracts

First trimester screening for Down syndrome and assisted reproduction: no basis for concern

PRENATAL DIAGNOSIS, Issue 7 2001
K. 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]

Fecal S100A12 and fecal calprotectin as noninvasive markers for inflammatory bowel disease in children

INFLAMMATORY BOWEL DISEASES, Issue 3 2008
Marc A. Sidler MD
Abstract Background: Fecal calprotectin is a sensitive marker for gut inflammation. Recently, we have established that a related protein, S100A12, is elevated in the feces of children with inflammatory bowel disease (IBD). This may represent a specific and sensitive disease marker. The objective was to investigate the utility of fecal S100A12, in comparison to fecal calprotectin and standard inflammatory markers, as a screening marker for IBD in children with gastrointestinal symptoms. Methods: Stool samples were obtained from 61 children presenting with gastrointestinal symptoms requiring endoscopy. Fecal S100A12, calprotectin, and serum S100A12 levels were measured and correlated to final diagnosis and standard tests (ESR, CRP, platelet count, and albumin). Results: Children diagnosed with IBD (n = 31) had elevated fecal S100A12 (median 55.2 mg/kg) and calprotectin (median 1265 mg/kg) levels compared with the children without IBD (n = 30; S100A12: median 1.1 mg/kg, P < 0.0001; calprotectin: median 30.5 mg/kg; P < 0.0001). The sensitivity and specificity of fecal S100A12 (cutoff 10 mg/kg) for the detection of IBD were both 97%, whereas fecal calprotectin (cutoff 50 mg/kg) gave a sensitivity of 100% and a specificity of 67%. Conclusions: Both fecal markers were superior to the sensitivities and specificities of any standard inflammatory test. Both fecal S100A12 and calprotectin are sensitive markers of gastrointestinal inflammation, but fecal S100A12 provided exceptional specificity in distinguishing children with IBD from children without IBD. Fecal S100A12 is a simple, noninvasive test that can be used to screen and select children warranting further invasive and laborious procedures such as endoscopy for the investigation of their gastrointestinal symptoms. (Inflamm Bowel Dis 2007) [source]

Microscopic hematuria as a screening marker for urinary tract malignancies

INTERNATIONAL JOURNAL OF UROLOGY, Issue 1 2001
Kazunobu Sugimura
Abstract Background: Although a mass screening urinalysis is a widely accepted procedure, it has not yet been shown if microhematuria is an appropriate and useful screening marker for urologic malignancies. Methods: (1) The incidence of hematuria was studied in 113 patients with renal cell carcinoma (RCC), 185 with bladder carcinoma and 51 with renal pelvic or ureteral carcinoma. The association of the T stage with the intensity of hematuria in each malignancy was also examined. (2) In 823 asymptomatic adults with microhematuria, the prevalence of these malignancies was studied retrospectively to find the positive predictive value (PPV). Results: (1) The incidence of hematuria was 35% for RCC, including gross and microhematuria. Advanced RCC (T3 and T4) were diagnosed more frequently in the gross hematuria group than in the microhematuria and no hematuria groups. In contrast, the incidence of hematuria was 94% for urothelial carcinomas either in the upper urinary tract or in the bladder. There was no significant difference in the T stage nor grade between the gross hematuria group and the microhematuria group. (2) Regarding asymptomatic microhematuria, the PPV was 1.7% (14 cases) for bladder carcinoma, 0.4% (3 cases) for ureteral/renal pelvic carcinoma and 0.2% (2 cases) for RCC. In men aged 50 years or older, PPV was 6.2% for urothelial carcinomas. In 14 cases of bladder carcinoma, 3 cases showed muscle invasion. Conclusions: Microhematuria is an appropriate screening marker for urothelial carcinomas, particularly in elderly men, but not for RCC. However, it is unlikely that a mass screening urinalysis using a single voided urine sample would contribute to earlier detection of bladder carcinoma. [source]

Human placental lactogen is a first-trimester maternal serum marker of Down syndrome

PRENATAL DIAGNOSIS, Issue 1 2007
Michael Christiansen
Abstract Background Human placental lactogen (hPL) is synthesised by the placenta and found in maternal serum. We analysed the potential of hPL as a first-trimester maternal serum-screening marker for fetal Down syndrome (DS). Materials and Methods hPL was quantified by ELISA in 47 DS pregnancies and 136 controls in gestational weeks 8,13. Distributions of log multiples of the median (MoMs) were established. The quantity of hPL in DS screening was estimated using Monte Carlo simulation methods. Results The mean log10 MoM hPL was , 0.1995 (SD: 0.1993) in affected and 0.0026 (SD: 0.2129) in control pregnancies. This corresponds to a MoM of 0.63 in DS pregnancies. hPL correlated significantly with log10 MoM values of hCG, (r = 0.320) and PAPP-A (r = 0.590) in controls, but not with hCG, (r = 0.228) or PAPP-A (r = 0.090) in DS pregnancies. The inclusion of hPL in the double test (PAPP-A + hCG,) increased the detection rate from 67 to 75% for a false-positive rate of 5%. Conclusion hPL is a DS screening marker that is applicable at weeks 9,13 and could be included in multiple marker first-trimester screening for DS. Copyright © 2007 John Wiley & Sons, Ltd. [source]

Nuchal translucency in dichorionic twins conceived after assisted reproduction

PRENATAL DIAGNOSIS, Issue 6 2006
P. W. Hui
Abstract Objectives As opposed to biochemical markers of Down syndrome, nuchal translucency (NT) was once thought to be a more reliable screening marker for high order multiple pregnancies and pregnancies conceived after assisted conception. Recent data suggested that NT in singleton fetuses from assisted reproduction technology (ART) was thicker than those from singleton pregnancies. The present study compared the thickness of NT in dichorionic twins from natural conception and assisted reproduction. Methods A retrospective analysis for comparison of NT thickness on 3319 spontaneous singletons, 19 pairs of spontaneous twins and 27 pairs of assisted reproduction twins was performed. Results The median NT multiple of median (MoM) of spontaneous singletons was 1.00. For twins, the median NT MoM for pregnancies after assisted reproduction and natural conception were 1.02 and 1.07 respectively. There was no statistical difference in the NT thickness among the three pregnancy groups. Conclusion Contrary to the observed increase in NT in singleton pregnancies from assisted reproduction, the NT in dichorionic twins was comparable to the spontaneous ones. The mode of conception appears to impose differential influence on singletons and twins. Copyright © 2006 John Wiley & Sons, Ltd. [source]

First-trimester maternal serum PAPP-A, SP1 and M-CSF levels in normal and trisomic twin pregnancies

PRENATAL DIAGNOSIS, Issue 2 2003
N. A. Bersinger
Abstract Objective To study PAPP-A and SP1 for biochemical trisomy screening in twin pregnancies and to investigate the role of maternal and placental compartments in marker production by comparing the levels of the decidual cytokine M-CSF with the PAPP-A and SP1 from the placenta. Methods Thirteen twin pregnancies with at least one chromosomally abnormal fetus were compared with 68 normal twin pregnancies. Sera were obtained between 11 + 3 and 13 + 6 weeks of gestation, and PAPP-A, SP1 and M-CSF levels were determined by immunoassay. These concentrations were also compared with gestation-matched groups of 18 singleton normal pregnancies and 18 singleton Down syndrome pregnancies. Results PAPP-A and SP1, but not M-CSF, levels were higher in normal twin pregnancy than in normal singleton pregnancy. SP1 levels, but not PAPP-A, correlated to M-CSF. PAPP-A, but not SP1, levels were reduced in abnormal twin pregnancies, with an increasing effect according to the number of affected fetuses, and were more pronounced in pregnancies with trisomy 18 or 13 than in trisomy 21 fetuses. M-CSF was inconsistent, with a trend towards increased levels in trisomy 21. Conclusion PAPP-A remains the best biochemical screening marker for fetal trisomies 21, 18 or 13, in singleton as well as in twin pregnancy. In contrast to SP1, its site of production is not likely to be restricted to the placenta. The role of the (maternally produced) M-CSF remains to be further investigated. Copyright © 2003 John Wiley & Sons, Ltd. [source]

First-trimester combined screening for Down syndrome: prediction of low birth weight, small for gestational age and pre-term delivery in a cohort of non-selected women

PRENATAL DIAGNOSIS, Issue 3 2008
Kasper Pihl
Abstract Objective To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-, (,-hCG), nuchal translucency (NT)], the Down syndrome (DS) risk estimate, and the adverse outcomes such as low birth weight, small for gestational age (SGA) and pre-term delivery. Methods A retrospective cohort study including 1734 non-selected singleton pregnancies consecutively enrolled into the programme of first-trimester combined screening for DS in a 12-month period at a single centre. Data from the Prenatal Patient Registry in ASTRAIA were combined with the Danish National Newborn Screening Registry and Danish Birth Registry. Results There was a significant relation between low PAPP-A MoM, low ,-hCG MoM, increased risk estimate for DS and low birth weight and SGA. Low PAPP-A MoM and increased NT showed a significant relation to pre-term and spontaneous pre-term delivery. Low PAPP-A MoM showed a significant relation to early pre-term delivery. Conclusion First-trimester screening markers exhibited a significant relation to low birth weight, SGA and to some extent, to pre-term and early pre-term delivery. The screening performance of individual markers was poor. Copyright © 2008 John Wiley & Sons, Ltd. [source]

Influence of maternal systemic lupus erythematosus on first-trimester combined screening for chromosomal abnormalities

PRENATAL DIAGNOSIS, Issue 7 2007
J. Heinig
Abstract Objective To explore the effect of maternal systemic lupus erythematosus (SLE) on first-trimester screening markers for Down syndrome. Methods A retrospective study was conducted on 1150 normal singleton fetuses that underwent first-trimester combined screening for Down syndrome. Fetal delta nuchal translucency (NT), maternal serum PAPP-A and free ,-hCG were compared between pregnancies with SLE (n = 10) and without preexisting maternal disease (n = 1140). Results The medians ± SD for delta NT, log10 MoM of PAPP-A and free ,-hCG ± SD in pregnancies with SLE and without maternal disease were , 0.18 ± 0.29 versus , 0.18 ± 0.33, 0.005 ± 0.32 versus 0.02 ± 0.26, and 0.22 ± 0.19 versus , 0.014 ± 0.28, with a p value of 0.7, 0.98 and 0.03, respectively. Conclusions Patients with preexisting SLE have increased maternal serum-free ,-hCG levels in the first-trimester. But, because of the multimodal procedure of risk calculation there is no significant difference in the screen-positive rate after the combined first-trimester screening for trisomy 21. Copyright © 2007 John Wiley & Sons, Ltd. [source]

Maternal serum free-,-chorionic gonadotrophin, pregnancy-associated plasma protein-A and fetal nuchal translucency thickness at 10,13+6 weeks in relation to co-variables in pregnant Saudi women

PRENATAL DIAGNOSIS, Issue 4 2007
Mohammed-Salleh M. Ardawi
Abstract Objective To establish normative values and distribution parameters of first-trimester screening markers, namely, fetal nuchal translucency (NT), maternal serum free ,-human chorionic gonadotrophin (,-hCG) and pregnancy-associated plasma protein-A (PAPP-A), at 10 to 13+6 weeks of gestation in Saudi women and to evaluate the effect of co-variables including maternal body weight, gravidity, parity, fetal gender, twin pregnancy, smoking and ethnicity on these markers. Methods A cohort of Saudi women (first cohort n = 1616) with singleton pregnancies prospectively participated in the present study, and fetal NT together with maternal serum free ,-hCG and PAPP-A were determined at 10 to 13+6 weeks of gestation. The distribution of gestational age-independent multiples of the median (MoM) of the parameters was defined and normative values were established, and correction for maternal body weight was made accordingly. The influence of various co-variables was examined using the data collected from the first and the second (n = 1849) cohorts of women and 62 twin pregnancies, and compared with other studies. Results All markers exhibited log-normally distributed MoMs. Gestational age-independent normative values were established. Maternal body weight was corrected, particularly for maternal free ,-hCG and PAPP-A using standard methods. Fetal NT showed a negative relationship with increasing gravidity (r = ,0.296) or parity (r = ,0.311), whereas both free ,-hCG and PAPP-A exhibited a significant positive relationship. There was a significant increase in the MoM of free ,-hCG in female fetuses. Smoking decreased MoM values of free ,-hCG (by 14.6%; P < 0.01) and PAPP-A (by 18.8%; P < 0.001). Twin pregnancy showed significant increases in MoM values of free ,-hCG (by 1.87-fold) and PAPP-A (by 2.24-fold), with no significant changes in fetal NT MoM values. Fetal NT MoM values were lower in Africans and Asians but higher in Orientals, as compared to Saudi women (P < 0.05; in each case). MoM values (body weight-corrected) of free ,-hCG were 25.2% higher in Africans and 19.4% higher in Orientals but 6.8% lower in other Arabian and Asian (by 5.8%) women as compared to Saudi women (P < 0.05; in each case). Conclusions The normative values and distribution parameters for fetal NT, maternal serum free ,-hCG and PAPP-A were established in Saudi singleton pregnancies, the maternal body weight together with smoking, twin pregnancy and ethnicity being important first-trimester screening co-variables. Gravidity, parity and fetal gender are also considered to influence one or more of the first-trimester markers examined. Copyright © 2007 John Wiley & Sons, Ltd. [source]

Maternal weight and ethnic adjustment within a first-trimester Down syndrome and trisomy 18 screening program

PRENATAL DIAGNOSIS, Issue 8 2005
David A. Krantz
Abstract Objective(s) To estimate weight and ethnic group correction factors for first-trimester screening markers. Methods Ethnic-specific median MoM free beta hCG and pregnancy associated plasma protein A (PAPP-A) and delta nuchal translucency values were calculated for cohorts of maternal weight (20 lb each) using data from 51 206 patients undergoing first-trimester screening. False-positive rates for Down syndrome and trisomy 18 were evaluated both prior to and after weight and ethnicity adjustment. Results Free beta hCG and PAPP-A significantly decreased with increasing maternal weight while nuchal translucency increased by a clinically insignificant amount. For free beta hCG the regression formula indicated that after accounting for maternal weight MoM values were 16% higher for African Americans, 6% higher for Asians and 9% lower for Hispanics compared to Caucasians (p < 0.001, p = 0.001, p < 0.001, respectively) but there was no significant difference for Asian Indians. For PAPP-A, MoM values were 35% higher for African Americans (p < 0.001) but were not significantly different for the other ethnic groups compared to Caucasians. Down syndrome false-positive rates did not vary with maternal weight prior to (p = 0.291) or after weight adjustment of biochemistry (p = 0.054). Trisomy 18 false-positive rates varied significantly with weight both before (OR = 1.455 per 20-pound increase, p < 0.001) and after (OR = 1.066 per 20-pound increase, p = 0.01) weight adjustment of biochemistry; however, the odds ratio was greatly reduced after weight adjustment. Conclusion(s) The first-trimester screening markers, free beta hCG, PAPP-A and nuchal translucency vary with maternal weight and ethnicity. Adjustment of free beta hCG and PAPP-A is indicated but adjustment of nuchal translucency results may not be necessary. Copyright © 2005 John Wiley & Sons, Ltd. [source]

ADAM12: a novel first-trimester maternal serum marker for Down syndrome

PRENATAL DIAGNOSIS, Issue 13 2003
Jennie Laigaard
Abstract Objectives The concentration of bioavailable insulin-like growth factor (IGF) I and II is important to foetal growth. It is regulated by insulin-like growth factor binding proteins (IGFBP) 1 through 6. Proteolytic cleavage of IGFBP-3 takes place in human pregnancy serum; accordingly, IGFBP-3 serum levels decrease markedly during pregnancy. ADAM12 (A disintegrin and metalloprotease) is an IGFBP-3 and IGFBP-5 protease and is present in human pregnancy serum. The goal of this study was to determine whether ADAM12 concentration in maternal serum is a useful indicator of foetal health. Methods We developed an enzyme-linked immunosorbent assay (ELISA) for the quantification of ADAM12 in serum. The assay range was 42 to 667 µg/L. Recombinant ADAM12 was used as the standard for calibration. Results We found that ADAM12 was highly stable in serum. Serum concentration increased from 180 µg/L at week 8 of pregnancy to 670 µg/L at 16 weeks, and reached 12 000 µg/L at term. In 18 first-trimester Down syndrome pregnancies, the concentration of ADAM12 was decreased, thus the median multiple of mean (MoM) value was 0.14 (0.01,0.76). A detection rate for foetal Down syndrome of 82% for a screen-positive rate of 3.2% and a 1:400 risk cut-off was found by Monte Carlo estimation using ADAM12 and maternal age as screening markers. Conclusion ADAM12 is a promising marker for Down syndrome. Copyright © 2003 John Wiley & Sons, Ltd. [source]