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Syndrome Pregnancies (syndrome + pregnancy)
Kinds of Syndrome Pregnancies Selected AbstractsSerum leptin in first-trimester Down syndrome pregnanciesPRENATAL DIAGNOSIS, Issue 6 2008Paula Hedley Abstract Background Leptin is a key regulator of satiety; and the serum concentration is considered to reflect nutritional status. Expressed predominantly by the adipocytes, leptin is also expressed in placenta, which is a major source of both leptin and the leptin receptor in pregnancy serum. As a placenta protein, leptin serum concentrations may be perturbed in Down syndrome (DS) pregnancies as seen for pregnancy-associated plasma protein-A (PAPP-A) and human chorionic gonadotrophin-, (hCG,). We examined whether leptin is a maternal serum marker for foetal DS in the first trimester. Materials and Methods Serum samples from 44 pregnant women with a DS foetus, and 135 control pregnant women in week 8 to 14 had the leptin concentration determined by immunoassay and the concentrations were converted into multiples of the median (MoM) of controls based on log-regression analysis. The distributions of log10 MoM leptin was compared in DS and control pregnancies. Results Serum leptin increased significantly with gestational age in controls (p = 0.02). The mean log10 MoM in controls was , 0.0486, with a median empirical MoM of 0.89, and , 0.0618, with a median empirical MoM of 0.80, in DS pregnancies. This difference was not significant. The log10 MoM leptin values in DS pregnancies did not change with gestational age (p = 0.32). Conclusion Leptin is not a first-trimester marker for foetal DS. Copyright © 2008 John Wiley & Sons, Ltd. [source] Maternal serum ADAM12 levels in Down and Edwards' syndrome pregnancies at 9,12 weeks' gestationPRENATAL DIAGNOSIS, Issue 8 2006Jennie Laigaard Abstract Background Maternal serum ADAM12 is reduced, on average, in early first-trimester Down and Edwards' syndrome pregnancies but the extent of reduction declines with gestation. Here we study levels at 9,12 weeks when the marker might be used concurrently with other established markers. Methods Samples from 16 Down and 2 Edwards' syndrome cases were retrieved from storage and tested together with 313 unaffected singleton pregnancies using a semi-automated time-resolved immuno-fluorometric assay. Results were expressed in multiples of the gestation-specific median (MoM) based on regression. Results The median in Down syndrome was 0.94 MoM with a 10th,90th centile range of 0.22,1.63 MoM compared with 1.00 and 0.33,2.24 MoM in unaffected controls (P = 0.21, one-side Wilcoxon Rank Sum Test). The two Edwards' syndrome cases had values 0.31 and 2.17 MoM. Conclusions ADAM12 cannot be used concurrently with other markers in the late first trimester. However, it does have the potential to be used earlier in pregnancy either concurrently with other early markers or in a sequential or contingent protocol. More data will be required to reliably predict the performance of either approach. Copyright © 2006 John Wiley & Sons, Ltd. [source] Maternal age-specific fetal loss rates in Down syndrome pregnanciesPRENATAL DIAGNOSIS, Issue 6 2006George M. Savva Abstract Objectives Pregnancies affected by Down syndrome (DS) have a greater risk of spontaneous fetal loss than those that are unaffected. In this article, we investigate the relationship between maternal age and the risk of spontaneous fetal loss in DS pregnancies. Methods Fetal loss at different maternal ages were estimated by survival analysis using follow-up of 5177 prenatally diagnosed cases. The maternal age effect on loss rate was subsequently confirmed by a re-analysis of published comparisons of the maternal age-specific prevalence of DS at different gestational ages. Results The average fetal loss rate between the time of chorionic villus sampling (CVS) and term was 32% (95% CI: 26,38), increasing from 23% (95% CI: 16,31) for women aged 25 to 44% (33,56) for women aged 45. The average fetal loss rate between the time of amniocentesis and term was 25% (21,31), increasing from 19% (14,27) to 33% (26,45) across the same age range. Conclusion The fetal loss rate in DS pregnancies increases with maternal age, and this has consequences when estimating the live birth prevalence of DS in the presence of prenatal diagnosis and termination, and when assessing the performance of prenatal screening techniques. Copyright © 2006 John Wiley & Sons, Ltd. [source] ADAM12: a novel first-trimester maternal serum marker for Down syndromePRENATAL DIAGNOSIS, Issue 13 2003Jennie 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] First-trimester maternal serum PAPP-A, SP1 and M-CSF levels in normal and trisomic twin pregnanciesPRENATAL DIAGNOSIS, Issue 2 2003N. 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] The first trimester ,combined test' for the detection of Down syndrome pregnancies in 4939 unselected pregnanciesPRENATAL DIAGNOSIS, Issue 3 2002K. Schuchter Abstract The high detection rate (DR) for Down syndrome (DS) pregnancies which can be achieved by measuring fetal nuchal translucency (NT) early in pregnancy can be improved by combining it with placental hormones [pregnancy-associated plasma protein A (PAPP-A) and free ,-human chorionic gonadotrophin (f,-hCG)] and maternal age (,combined test'). In this study we wanted to assess the DR using the ,combined test' in an unselected population of self-referred pregnant women at a false-positive rate (FPR) of about 5%. NT, PAPP-A, f,-hCG and maternal age were measured in all women with singleton pregnancies who booked for delivery in our hospital from 1 December 1997 to 31 April 2000 and who were between 10 and 13 completed weeks of gestation [crown,rump length (CRL) 35,70,mm]. The specific DS risk was calculated using the computer program Alpha Version 5aa (Logical Medical Systems, London, UK). A total of 4939 women were tested. Out of 14 DS pregnancies that occurred during this period of time, 12 were detected with the test. A total of 246 women had a false-positive test result in a non-DS pregnancy (FPR 5.0%). This makes the ,combined test' by far the best test for the detection of DS pregnancies in a low-risk population. The constant increase in maternal age at the time of delivery can also lead to an improved DR if a simple age-dependant protocol for DS detection is used, but only at the price of a much higher number of amniocenteses and subsequent abortions. The DR for DS can be increased much more markedly using the ,combined test' with a FPR that still remains at the level as it was in the early 1970s. Copyright © 2002 John Wiley & Sons, Ltd. [source] Prenatal diagnosis, pregnancy terminations and prevalence of Down syndrome in Atlanta,BIRTH DEFECTS RESEARCH, Issue 9 2004Csaba Siffel Abstract BACKGROUND The impact of prenatal diagnosis on the live birth prevalence of Down syndrome (trisomy 21) has been described. This study examines the prevalence of Down syndrome before (1990,1993) and after inclusion of prenatally diagnosed cases (1994,1999) in a population-based registry of birth defects in metropolitan Atlanta. METHODS We identified infants and spontaneous fetal deaths with Down syndrome (n = 387), and pregnancies electively terminated after a prenatal diagnosis of Down syndrome (n = 139) from 1990 to 1999 among residents of metropolitan Atlanta from a population-based registry of birth defects, the Metropolitan Atlanta Congenital Defects Program (MACDP). Only diagnoses of full trisomy 21 were included. Denominator information on live births was derived from State of Georgia birth certificate data. We compared the prevalence of Down syndrome by calendar period (1990,1993, 1994,1999), maternal age (<35 years, 35+ years), and race/ethnicity (White, Black, other), using chi-square and Fisher's exact tests. RESULTS During the period when case ascertainment was based only on hospitals (1990,1993), the prevalence of Down syndrome was 8.4 per 10,000 live births when pregnancy terminations were excluded and 8.8 per 10,000 when terminations were included. When case ascertainment also included perinatal offices (1994,1999), the prevalence of Down syndrome was 10.1 per 10,000 when terminations were excluded and 15.3 when terminations were included. During 1990,1993, the prevalence of Down syndrome was 24.7 per 10,000 among offspring to women 35+ years of age compared to 6.8 per 10,000 among offspring to women <35 years of age (rate ratio [RR] = 3.65, 95% confidence interval [CI] = 2.53,5.28). During 1994,1999, the prevalence of Down syndrome was 55.3 per 10,000 among offspring to women 35+ years compared to 8.5 per 10,000 among offspring to women <35 years (RR = 6.55, 95% CI = 5.36,7.99). There was no statistically significant variation in the prevalence of Down syndrome by race/ethnicity within maternal age and period of birth strata. During 1994,1999, the proportion of cases that were electively terminated was greater for women 35+ years compared to women <35 years (RR = 5.10, 95% CI = 3.14,8.28), and lower for Blacks compared to Whites among women 35+ years of age (RR = 0.33, 95% CI = 0.16,0.66). CONCLUSIONS In recent years, perinatal offices have become an important source of cases of Down syndrome for MACDP, contributing at least 34% of cases among pregnancies in women 35+ years of age. Variation in the prevalence of Down syndrome by race/ethnicity, before or after inclusion of cases ascertained from perinatal offices, was not statistically significant. Among Down syndrome pregnancies in mothers 35+ years we found a lower proportion of elective termination among Black women compared to White women. We suggest that future reports on the prevalence of Down syndrome by race/ethnicity take into account possible variations in the frequency of prenatal diagnosis or elective termination by race/ethnicity. Birth Defects Research (Part A) 70565,571, 2004. Published 2004 Wiley-Liss, Inc. [source] Women's knowledge of and attitudes to first and second trimester screening for Down's syndromeBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 10 2000S. Mulvey Research Fellow (Maternal Fetal Medicine) One hundred women were interviewed at their first hospital antenatal visit to assess their knowledge of, and attitudes to, first versus second trimester screening for Down's syndrome. Overall, the women had limited knowledge of Down's syndrome, and the prenatal screening and diagnostic tests that are available. However, when informed, the majority of women expressed a clear preference for first trimester screening tests for Down's syndrome, regardless of the rate of miscarriage of Down's syndrome pregnancies between 10 and 15 weeks of gestation. These findings have implications for the planning of prenatal Down's syndrome screening programmes. [source] Accuracy of trisomy 18 screening using the second-trimester triple testPRENATAL DIAGNOSIS, Issue 6 2003Chris Meier Abstract Objective To assess the accuracy of the calculated risk for trisomy 18 assigned to individual women screened with the second-trimester triple test. Methods The study was based on 382 598 women screened in the Ontario Maternal Serum Screening Programme between October 1993 and September 2000. Of the women screened, 111 cases of trisomy 18 were identified. Originally, 92 874 women were screened using a risk cut-off level method. Estimated risks of trisomy 18 were calculated by applying published population parameters for the remaining women screened using a fixed analyte cut-off method. Women were ranked according to their individual risk for trisomy 18 syndrome in decreasing order and divided into 12 groups. The mean calculated risks of having an affected pregnancy at term for each group were compared with the birth prevalence of the corresponding group after allowing for spontaneous fetal losses. Results Agreement between the mean calculated risks and the observed prevalence was seen across the entire risk range, although women identified as having high-risk pregnancies had an actual prevalence that was somewhat lower than that estimated by the screen. Conclusion The calculated risk for trisomy 18 syndrome assigned to the individual woman on the basis of the risk cut-off method accurately reflects their risk of having a term trisomy 18 syndrome pregnancy. Copyright © 2003 John Wiley & Sons, Ltd. 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