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Maternal Serum (maternal + serum)
Terms modified by Maternal Serum Selected AbstractsMaternal serum screening in cases of mosaic and translocation Down syndromePRENATAL DIAGNOSIS, Issue 8 2008Sophie Dreux Abstract Objectives To determine if the second-trimester maternal serum markers (MSM) screening for Down syndrome (DS) is efficient in DS mosaicism or structural rearrangement cases. Method DS mosaic or translocation cases were reviewed from databases of routine MSM DS screening. The control group consisted of 977 trisomy 21 cases included in a series of 854 902 patients (routine screening). DS risk was calculated by combination of maternal age and MSM [alpha-fetoprotein (AFP) and human choriogonadotrophin (hCG) or free ,-hCG and/or uE3] expressed in multiples of median (MoM). Mosaic DS cases were divided into three groups, < 10%, 10,49%, and , 50% trisomy 21 cells. Translocation DS cases were divided into three groups, isochromosome, Robertsonian, or reciprocal translocation. Detection rate (DR) and MoMs were evaluated in each group. Results As many as 76 cases of nonstandard trisomy 21 were collected. For mosaic DS cases (n = 43) DR was 69.8% (not significantly different from the 70.8% of control group). When mosaicism was less than 10%, the DR dropped to 25%. For translocation DS cases (n = 33) DR was 75.7% (not significantly different from control group) whatever the types of translocation. Conclusion In the nonstandard DS cases, second-trimester MSMs gave the same detection rate as for standard trisomy 21, except the cases with low-level mosaicism (<10%). Copyright © 2008 John Wiley & Sons, Ltd. [source] ADAM12-s in coelomic fluid and maternal serum in early pregnancyPRENATAL DIAGNOSIS, Issue 13 2006George Makrydimas Abstract Objectives ADAM12-s is a placental protein. In early pregnancy, reduced maternal levels of ADAM12-s have been reported in association with foetal trisomy 21 or 18 and in cases that subsequently develop pre-eclampsia and foetal growth restriction. The aim of this study is to investigate the distribution of ADAM12-s in early pregnancy by comparing its concentration in maternal serum, amniotic fluid and coelomic fluid. Methods Coelomic fluid was obtained by coelocentesis from 13 singleton pregnancies with live foetuses at 6.9,9.3 weeks of gestation. Maternal serum was also obtained in all cases and in six cases amniotic fluid was also obtained. The concentration of ADAM12-s was measured by dissociation enhanced lanthanide fluoro-immunoassay. Results The median concentration of ADAM12-s in maternal serum was 132.7 (range 33.8,254.5) ng/mL and in coelomic fluid it was 10.5 (range 1.3,15.8) ng/mL; there were no detectable levels in five of the six amniotic fluid samples. The concentration of maternal serum ADAM12-s increased significantly with gestation (r = 0.862, p < 0.0001). There was no significant association between coelomic fluid ADAM12-s and either gestation (r = 0.255, p = 0.401) or maternal serum ADAM12-s (r = 0.302, p = 0.316). Conclusion The distribution of ADAM12-s in maternal serum and the early embryonic fluid compartments is consistent with its syncytiotrophoblastic origin. Copyright © 2006 John Wiley & Sons, Ltd. [source] Maternal serum,integrated screening for trisomy 18 using both first- and second-trimester markersPRENATAL DIAGNOSIS, Issue 3 2003Glenn E. Palomaki Abstract Objectives To estimate the prenatal screening performance of an integrated serum test for detecting trisomy 18, which combines measurements of first- and second-trimester markers with maternal age to assign patient-specific risks. Methods Published and new observations of maternal serum marker levels in trisomy 18 and unaffected pregnancies are used to derive population parameters. These parameters are then combined in a multivariate Gaussian model to assign patient-specific risks for trisomy 18. Results The best combination of serum markers includes pregnancy-associated plasma protein-A in the first trimester and alpha-fetoprotein, unconjugated estriol and human chorionic gonadotropin in the second trimester. At a second-trimester risk cutoff of 1 : 100, these 4 markers, in combination with maternal age, detect 90% of trisomy 18 pregnancies at a false-positive rate of 0.1%. The odds of a trisomy 18 pregnancy among screen-positive women are 1 : 4. Without the first-trimester marker, detection is reduced to 67% at about the same false-positive rate. Conclusion The algorithm described here is highly efficient for detecting trisomy 18 and should be considered by programs that offer serum-integrated screening for Down syndrome. Copyright © 2003 John Wiley & Sons, Ltd. [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] Neonatal isoimmune thrombocytopenia caused by type I CD36 deficiency having novel splicing isoforms of the CD36 geneEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 1 2008Takeshi Taketani Abstract Neonatal alloimmune thrombocytopenia (NAIT) occurs because of transplacentally acquired maternal platelet alloantibodies. Most of the alloantibodies are against human platelet antigens, but the alloantibody against CD36 is rare. A full-term female baby was delivered by a mother who experienced two spontaneous abortions. The baby had thrombocytopenia with cephalhematoma. The platelet count increased by immunoglobulin therapy (400 mg/kg) for 3 d. Platelet antibody was detected in the postpartum maternal serum. The specificity of the antibody directed against platelets was identified as anti-Naka (CD36). Flow cytometric analysis showed no expression of CD36 in both platelets and monocytes from mother. Mutation analysis revealed two different splicing isoforms of maternal CD36 mRNA. One allele was exon 4 skipping, another was exon 9 skipping, both of which led to a frameshift and produced a truncated CD36 protein. These results indicate that NAIT is caused by maternal CD36 deficiency having CD36 splicing abnormalities. [source] Cost-effectiveness analysis of triple test in second-trimester maternal serum screening for Down's syndrome: an experience from Taiwan with decreasing birth rate but increasing population of old pregnant womenJOURNAL OF EVALUATION IN CLINICAL PRACTICE, Issue 2 2008Hsiao-Lin Hwa PhD Objectives, We intended to assess the cost-effectiveness of adding unconjugated oestriol (uE3) in maternal serum screening for Down's syndrome in Taiwan, where there is a decreasing birth rate but an increasing trend of old women having pregnancies. Methods, We used logistic regressions to estimate the risk of Down's syndrome with maternal age and different combinations of biomarkers. Cost-effectiveness analysis was presented in terms of the average and incremental cost-effectiveness ratios. Sensitivity analyses with different parameters were performed. Results, Given a cut-off point of 1:270 for the confirmation of Down's syndrome with amniocentesis, the average cost per case averted for maternal age above 35 years only, double test [alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG)] and triple test (AFP, hCG and uE3) were estimated as $14 561, $42 367 and $37 424. The additional costs per case averted for double test and triple test (compared with maternal age above 35 years) were $135 950 and $77 394, respectively. The additional cost per case averted for triple test was $15 199 compared with double test. Conclusions, The performance of triple test is not only more effective in detecting Down's syndrome cases but also more cost-effective than double test in this study. [source] Fetal gender determination in early first trimester pregnancies of rhesus monkeys (Macaca mulatta) by fluorescent PCR analysis of maternal serumJOURNAL OF MEDICAL PRIMATOLOGY, Issue 6 2003Daniel F. Jimenez Abstract:, Non-human primate fetal gender determination can be a powerful tool for research study design and colony management purposes. The recent discovery of the presence of fetal DNA in maternal serum has offered a new non-invasive approach for identification of fetal gender. We present a rapid and simple method for the sexing of developing rhesus monkeys in the first trimester by polymerase chain reaction (PCR) analysis of maternal serum. Serum samples were obtained from 72 gravid rhesus monkeys during 20,32 days of gestation (term 165 ± 10 days). Fetal gender and the quantity of circulating fetal DNA were determined by real-time PCR analysis of the rhesus Y-chromosomal DNA sequences. The sensitivity for identifying a male fetus was 100% by 30 days gestation, and no false-positive results were observed. This study demonstrates that fetal gender can be reliably determined in the early first trimester from maternal serum samples, a non-invasive method for routine gender screening. [source] Relationship of adiponectin and resistin levels in umbilical and maternal serum with fetal macrosomiaJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 3 2010Jing Wang Abstract Aim:, Adiponectin and resistin are novel hormones secreted by human adipocytes and mononuclear cells, which have been postulated to play roles in the regulation of energy metabolism during pregnancy. However, correlations between adiponectin and resistin levels in umbilical and maternal serum and fetal macrosomia remain poorly understood. The purpose of this study was to clarify the relationship of adiponectin and resistin levels in umbilical and maternal serum with fetal macrosomia. Methods:, Serum adiponectin and resistin levels were prospectively measured by enzyme immunoassay in 70 mothers and their 70 neonates. The study group included 30 neonates with macrosomia and the control group included 40 neonates that were appropriate for gestational age. The correlations of cord serum adiponectin and resistin with maternal serum adiponectin and resistin, birth weight, body mass index (BMI), and placental weight were analyzed. Results:, Serum adiponectin and resistin levels were significantly decreased in macrosomic mothers compared with those in control women. The levels of adiponectin and resistin were diminished in macrosomic babies in comparison with control newborns. Umbilical serum adiponectin levels were inversely correlated with birth weight, newborn BMI, and placental weight, but not with maternal serum adiponectin levels. Umbilical serum resistin levels had a positive correlation with maternal serum resistin and a negative correlation with birth weight, newborn BMI, and placental weight. In addition, maternal serum resistin levels were inversely correlated with newborn birth weight. Conclusion:, It is suggested that adiponectin and resistin play important roles in controlling body weight and may be related to the occurrence of fetal macrosomia. [source] Maternal and fetal serum transformed alpha-fetoprotein levels in normal pregnancyJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 2 2009Fernando González-Bugatto Abstract Aim:, To evaluate transformed alpha-fetoprotein (t-AFP) (a new molecular conformation of alpha-fetoprotein) levels in maternal serum and fetal serum in normal pregnancy. Methods:, Prospective longitudinal study. Fifty pregnant women were studied in two groups: 25 were evaluated in each trimester of pregnancy and near term (12, 20, 32 and 36 weeks) and the other 25 were evaluated at the time of planned cesarean section at term. In the first group, maternal serum t-AFP was measured and in the second group, maternal and fetal serum t-AFP were analyzed. Results:, Maternal serum t-AFP levels (medians) were 14.73 ng/mL in the first trimester, 28.29 ng/mL in the second trimester, 30.45 ng/mL in the early third trimester and 8.06 ng/mL in late pregnancy. t-AFP levels were significantly higher in maternal than in fetal serum (P < 0.001). There were no significant correlations between AFP and t-AFP levels in maternal versus fetal serum. Conclusions:, t-AFP increases during pregnancy until the early third trimester and then falls before delivery. t-AFP levels are higher in maternal than in fetal serum which suggests that native AFP is transformed to t-AFP either in the mother or in the placenta. [source] Melatonin stimulates glutathione peroxidase activity in human chorionJOURNAL OF PINEAL RESEARCH, Issue 4 2001Yuji Okatani In preeclampsia, placental production of lipid peroxides is abnormally increased, while placental glutathione peroxidase (GSH-Px) and superoxide dismutase (SOD) activities are decreased. Administration of melatonin, a powerful scavenger of oxygen free radicals, also may protect the placenta from free radical-induced damage by increasing the activity of antioxidant enzymes. To test this hypothesis we administered melatonin to pregnant women before they underwent voluntary interruption of pregnancy between 7 and 9 wk of gestation. Melatonin (6 mg) was administered orally at 12:00 hr, and samples of chorion and maternal blood were obtained at the time of the procedure, 1, 2 or 3 hr later. We measured the melatonin concentration in maternal serum and activities of GSH-Px and SOD and levels of melatonin in chorionic homogenates. Melatonin administration was reflected by markedly increased melatonin concentrations in maternal serum and in chorion, with peak levels achieved 1 hr after melatonin administration (serum, 46.87±10.87 nM/L; chorionic homogenate, 4.36±1.56 pmol/mg protein). Between 1 and 3 hr after melatonin administration, GSH-Px activity in chorionic homogenates increased significantly (P<0.001), with peak levels occurring at 3 hr (51.68±3.22 mU/mg protein per min, 137.3% of GSH-Px activity in untreated control subjects). No significant changes in chorionic SOD activity occurred during the 3-hr post-administration period. These results indicate that exogenous melatonin increases GSH-Px activity in the chorion and thereby may protect indirectly against free radical injury. Melatonin could be useful in treating preeclampsia and possibly other clinical states involving excessive free radical production, such as intrauterine fetal growth retardation and fetal hypoxia. [source] Melatonin increases activities of glutathione peroxidase and superoxide dismutase in fetal rat brainJOURNAL OF PINEAL RESEARCH, Issue 2 2000Yuji Okatani Melatonin is a powerful scavenger of oxygen free radicals. In humans, melatonin is rapidly transferred from the maternal to the fetal circulation. To investigate whether or not maternal melatonin administration can protect the fetal rat brain from radical-induced damage by increasing the activities of antioxidant enzymes, we administered melatonin to pregnant rats on day 20 of gestation. Melatonin (10 mg/kg) was injected intraperitoneally at daytime (14:00 hr) and, to remove the fetuses, a laparotomy was performed at 1, 2, or 3 hr after its administration. We measured the melatonin concentration in the maternal serum and in fetal brain homogenates and determined the activities of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) in fetal brain homogenates. Melatonin administration markedly increased melatonin concentrations in the maternal serum and fetal brain homogenates, with peak levels achieved 1 hr after melatonin administration (serum: 538.2±160.7 pM/mL; brain homogenates: 13.8±2.8 pM/mg protein). Between 1 and 3 hr after melatonin administration, GSH-Px activity in fetal brain homogenates increased significantly (P<0.01). Similarly, SOD activity increased significantly between 1 and 2 hr after melatonin administration (P<0.01). These results indicate that melatonin administration to the mother increases antioxidant enzyme activities in the fetal brain and may thereby provide indirect protection against free radical injury. Thus, melatonin may potentially be useful in the treatment of neurodegenerative conditions that may involve excessive free radical production, such as fetal hypoxia and preeclampsia. [source] Prenatal polychlorinated biphenyl exposures in eastern Slovakia modify effects of social factors on birthweightPAEDIATRIC & PERINATAL EPIDEMIOLOGY, Issue 3 2008Dean Sonneborn Summary Polychlorinated biphenyls (PCB) were widely used for industrial purposes and consumer products, but because of their toxicity, production was banned by most industrialised countries in the late 1970s. In eastern Slovakia, they were produced until 1985. During 2002,04, a birth cohort of mothers (n = 1057) residing in two Slovak districts was enrolled at delivery, and their specimens and information were collected after birth. Congeners of PCBs were measured in maternal serum by high-resolution gas chromatography with electron capture detection. In this study, we used multiple linear regression to examine the effects of prenatal PCB exposure on birthweight adjusted for gestational age, controlling for inter-pregnancy interval, and maternal smoking, age, education, ethnicity, pre-pregnancy body mass index and height. The association between total maternal serum PCB levels and birthweight was not statistically significant. However, an interaction model indicated that maternal PCB concentrations were associated with lower birthweight in Romani boys. Based on the fitted regression model, the predicted birthweight of Romani boys at the 90th percentile of maternal PCBs (12.8 ng/mL) was 133 g lower than the predicted birthweight at the 10th percentile of maternal PCBs (1.6 ng/mL). This is a similar magnitude of effect to that observed for maternal smoking and birthweight. These results suggest that higher levels of PCBs in maternal blood sera may inhibit growth in boys, particularly in those already affected by social factors related to ethnicity. This study is consistent with previous findings that boys are more susceptible than girls to growth restriction induced by in utero organochlorine exposures, and further indicates that high PCBs may magnify the influence of social disadvantage in this vulnerable group of boys. [source] Descriptive epidemiology of Down's syndrome in EstoniaPAEDIATRIC & PERINATAL EPIDEMIOLOGY, Issue 6 2006Tiia Reimand Summary The aim of the study was to investigate the livebirth prevalence of Down's syndrome (DS) in Estonia during the past 14 years, create a DS database and observe the effectiveness of prenatal screening. This is a population-based descriptive study. The study subjects were children with DS diagnosis born between the years 1990 and 2003. We collected data from genetic centres in Estonia, from the databases of DS support groups, from institutions for disabled children and from the registers of family doctors/paediatricians. Prenatal screening for chromosomal anomalies for women aged ,35 years was started in Estonia in 1995. Therefore, we divided the DS children into two groups: 112 born between 1990 and 1994 comprise group I, and 127 born between 1995 and 2003 comprise group II. Group II was further divided into two subgroups: IIa, from 1995 to 1998, when screening of advanced maternal age (,35 years) commenced, and IIb, from 1999 to 2003, when screening of second trimester maternal serum for younger women commenced. Prenatally, 68 cases of DS were diagnosed between 1995 and 2003 in the whole of Estonia, and all of these pregnancies were terminated. This represents 34.9% of all delivered and prenatally detected DS cases from this period. The overall livebirth prevalence was 1.17 per 1000 livebirths. The livebirth prevalence in group I was 1.25 and in group II was 1.09 per 1000 livebirths. The second trimester maternal serum screening with advanced maternal age screening was more effective than advanced maternal age screening alone. The livebirth prevalence in group IIa was 1.22 and in group IIb 0.99 per 1000 livebirths. Overall, regular trisomy was found in 90.4%, translocation in 6.3% and mosaicism in 2.9%. The overall male to female sex ratio of DS was 1.09. [source] Prevalence of steroid sulfatase deficiency in California according to race and ethnicityPRENATAL DIAGNOSIS, Issue 9 2010Wendy Y. Craig Abstract Objective Estimate steroid sulfatase deficiency (STSD) prevalence among California's racial/ethnic groups using data from a previous study focused on prenatal detection of Smith-Lemli-Opitz syndrome (SLOS). SLOS and STSD both have low maternal serum unconjugated estriol (uE3) levels. Methods Prevalence was estimated using three steps: listing clinically identified cases; modeling STSD frequency at three uE3 intervals using diagnostic urine steroid measurements; applying this model to determine frequency in pregnancies not providing urine. Results Overall, 2151 of 777 088 pregnancies (0.28%) were screen positive; 1379 of these were explained and excluded. Fifty-four cases were diagnosed clinically among 707 remaining pregnancies with a male fetus. Urine steroid testing identified 74 additional STSD cases: 66 (89.2%) at uE3 values < 0.15 MoM, 8 (10.8%) at 0.15,0.20 MoM, and 0 (0%) at > 0.20 MoM. Modeling estimated 107.5 STSD cases among 370 pregnancies without urine samples. In males, STSD prevalence was highest among non-Hispanic Whites (1:1230) compared to Hispanics (1:1620) and Asians (1:1790), but differences were not significant. No STSD pregnancies were found among 65 screen positive Black women. Conclusion The overall prevalence estimate of 1:1500 males is consistent with published estimates and is reasonable for counseling, except among Black pregnancies where no reliable estimate could be made. Copyright © 2010 John Wiley & Sons, Ltd. [source] The association between preeclampsia and placental disruption induced by chorionic villous samplingPRENATAL DIAGNOSIS, Issue 6 2010Antonio Farina Abstract Objectives The objectives of this study were (1) to evaluate if the elevation of maternal serum ,-feto protein (MSAFP) and pregnancy-associated placental protein-A (PAPP-A) in the maternal blood after chorionic villous sampling (CVS) is associated with a higher preeclampsia (PE) rate and (2) to verify the clinical utility of the analytes elevation for predicting PE. Methods A prospective study on 106 subjects who underwent CVS was performed. At the time of CVS, two blood samples were obtained for MSAFP and PAPP-A dosage, the first just before the procedure, and the second one 30 min after the procedure. Cases with abnormal karyotype, major anomalies or preterm delivery were subsequently excluded. The ratio between the two samples was calculated as , (MSAFP or PAPP-A post-CVS/MSAFP or PAPP-A pre-CVS) and it was related to subsequent occurrence of PE. Results The rate of PE was 5.7% (6/106). Both MSAFP and PAPP-A levels were higher after than before CVS (median ratio = 8.33 and 1.08, respectively). Cases developing PE had significantly higher MSAFP ratio (11.6 vs 7.4, p -value = 0.04) and PAPP-A ratio (1.13 vs 1.08, p -value = 0.009) than those who did not develop PE. Receiver operating characteristic curve analysis showed that PAPP-A ratio was a better predictor of subsequent PE than MSAFP ratio: at a fixed false positive rate of 10%, the detection rates for MSAFP and PAPP-A ratios were 33 and 50%, respectively. Conclusion The elevation of MSAFP and PAPP-A observed with CVS is associated with increased risk of subsequent PE. The ability of such increases to predict PE appears to be modest. Copyright © 2010 John Wiley & Sons, Ltd. [source] PP13 stability in first trimester maternal serum and whole bloodPRENATAL DIAGNOSIS, Issue 6 2010N. J. Cowans Abstract Background Maternal serum placental protein 13 (PP13) has been proposed as a marker for prenatal screening of pre-eclampsia (PE) and other adverse pregnancy outcomes. This study aims to examine the stability of PP13 at different routine temperatures. Methods Maternal serum pools and whole blood samples were stored at ,30 °C', room temperature or refrigerator temperature. Further, serum pools were also subjected to repeated freeze,thaw cycles. PP13 was measured at set time points using an AutoDELFIA® research assay. Results Levels of PP13 are stable, defined as less than 10% change in concentration, in serum for 17.4 h at ,30 °C', 3.4 days at room temperature and for at least 34 days at refrigerator temperature. PP13 concentration is not altered following three ,20 °C to room temperature freeze,thaw cycles. PP13 is stable in whole blood for at least 3 days at all three temperatures studied. Conclusions PP13 is a suitably stable molecule and can be treated under routine laboratory and normal transport temperatures. Copyright © 2010 John Wiley & Sons, Ltd. [source] Prediction of adverse pregnancy outcomes by combinations of first and second trimester biochemistry markers used in the routine prenatal screening of Down syndromePRENATAL DIAGNOSIS, Issue 5 2010Tianhua Huang Abstract Objective To investigate the associations between four defined adverse pregnancy outcomes and levels of first and second trimester maternal serum markers focusing in particular on how well combinations of markers predict these adverse outcomes. Methods This was a retrospective review of associations between first and second trimester serum markers and adverse pregnancy outcomes among 141 698 women who underwent prenatal screening for Down syndrome in Ontario, Canada. Detection rates (DR), false positive rates (FPR), and odds ratios were estimated using both single and combinations of markers for the adverse outcomes defined. Results Women with decreased second trimester unconjugated oestriol (uE3), deceased first trimester maternal serum pregnancy-associated plasma protein A (PAPP-A), increased second trimester serum alpha fetoprotein (AFP), or increased second trimester total human chorionic gonadotrophin (hCG) were at greater risk of developing adverse pregnancy outcomes. At a 5% FPR, combinations of these markers predicted at best 33.3% of fetal loss and 31.5% of preterm births (PTB) before 32 weeks of gestation. Conclusion There are significant associations between the levels of first and second trimester serum markers and adverse obstetric outcomes. However, even combinations of these markers can only predict adverse obstetric outcomes with modest accuracy. Copyright © 2010 John Wiley & Sons, Ltd. [source] Free leptin index and PAPP-A: a first trimester maternal serum screening test for pre-eclampsiaPRENATAL DIAGNOSIS, Issue 2 2010Paula L. Hedley Abstract Background Prophylaxis with low-dose aspirin may reduce the risk of pre-eclampsia (PE) if introduced in first trimester. The performance of first trimester maternal serum screening for PE using free leptin index (fLI) and PAPP-A, where fLI = leptin/leptin soluble receptor was studied. Methods First trimester serum samples from 126 PE pregnancies and 289 control pregnancies were studied. fLI and PAPP-A were converted into gestational age and maternal weight independent log MoM values of PAPP-A and fLI. The screening performance of markers was studied by receiver-operator-characteristics curves. The performance of population screening was estimated by Monte Carlo simulation. Results fLI was significantly (p < 0.001) elevated [mean log MoM 0.2165 (SD: 0.2604)] compared to controls [mean log MoM ,0.0368 (SD: 0.3132)] and PAPP-A was significantly (p < 0.001) reduced [mean log MoM ,0.0133 (SD: 0.2661)] compared to controls [mean log MoM 0.0474 (SD: 0.2521)] in PE pregnancies. There was no correlation between fLI and PAPP-A in control or PE pregnancies. Combined fLI and PAPP-A screening for PE had estimated population detection rates of 22% and 35% for false positives rates of 6% and 12%, respectively. Conclusion Combining PAPP-A and fLI improves screening performance for PE compared to single marker screening. Copyright © 2009 John Wiley & Sons, Ltd. [source] Second-trimester maternal serum screening for Down syndrome in twin-to-twin transfusion syndromePRENATAL DIAGNOSIS, Issue 8 2009Nathalie Sermondade No abstract is available for this article. [source] Physiological distribution of placental growth factor and soluble Flt-1 in early pregnancyPRENATAL DIAGNOSIS, Issue 3 2008George Makrydimas Abstract Objective To examine the distribution of placental growth factor (PlGF), vascular endothelial growth factor (VEGF) and soluble VEGF receptor-1 (sFlt-1) in maternal and embryonic fluid compartments in early pregnancy. Method The concentrations of PlGF, VEGF and sFlt-1 were measured in coelomic fluid and maternal serum from 16 singleton pregnancies at 7.0,9.3 weeks. In six cases, amniotic fluid was also examined. Results The median concentration of PlGF was 14.1 (range 8.9,27.6) pg/mL in maternal serum, 13.9 (range 9.5,31.4) pg/mL in coelomic fluid and 8.9 (range 3.9,15.3) pg/mL in amniotic fluid. The concentration of PlGF increased between 7.0 and 9.3 weeks in maternal serum (p = 0.001) and decreased in coelomic and amniotic fluid (p = 0.001). The median concentration of sFlt-1 was 8561 (range 6724-10 673) pg/mL in coelomic fluid, 523 (range 244,986) pg/mL in maternal serum, 30 (range 12,83) pg/mL in amniotic fluid (p = 0.0001), and it did not change significantly with gestation. VEGF was undetectable in most of the samples, and therefore, no further analysis was performed. Conclusion PlGF and sFlt-1 are present in the maternal and fetal fluid compartments in very early pregnancy, and their distribution is consistent with their site of production and the local conditions of transport. Copyright © 2008 John Wiley & Sons, Ltd. [source] Contingent screening for Down syndrome,results from the FaSTER trialPRENATAL DIAGNOSIS, Issue 2 2008Howard S. Cuckle Abstract Objective Comparison of contingent, step-wise and integrated screening policies. Methods Mid-trimester Down syndrome risks were retrospectively calculated from FaSTER trial data. For contingent screening, initial risk was calculated from ultrasound measurement of nuchal translucency (NT), maternal serum pregnancy-associated plasma protein (PAPP)-A and free ,-human chorionic gonadotrophin (hCG) at 11,13 weeks, and classified positive (>1 in 30), borderline (1 in 30,1500) or negative. Borderline risks were recalculated using ,-fetoprotein, hCG, unconjugated estriol (uE3) and inhibin at 15,18 weeks, and reclassified as positive (>1 in 270) or negative. For step-wise screening, initial negative risks were also recalculated. For integrated screening, a single risk was calculated from NT, PAPP-A and the second trimester markers. Results There were 86 Down syndrome and 32 269 unaffected pregancies. The detection rate for contingent screening was 91% and false-positive rate was 4.5%; initial detection rate was 60%, initial false-positive rate was 1.2% and borderline risk was 23%. Step-wise screening had 92% detection rate and 5.1% false-positive rate; integrated screening had 88% and 4.9% respectively. Conclusion As predicted by modelling, the contingent screening detection rate for a fixed false-positive rate is comparable with step-wise and integrated screening, but substantially reduces the number needing to return for second trimester testing. Copyright © 2008 John Wiley & Sons, Ltd. [source] Unexplained elevated maternal serum ,-HCG concentration and adverse pregnancy outcomePRENATAL DIAGNOSIS, Issue 11 2007Ramesh Ganapathy Abstract Objective To investigate the association between unexplained elevated maternal serum ,-Human chorionic gonadotrophin (HCG) in the second trimester of pregnancy and adverse pregnancy outcome. Methods In a case-controlled study of 3463 women who opted for second-trimester serum screening for Down syndrome, 142 were found to have a serum ,-HCG of ,3.5 multiples of the median (MoM), 56 of whom had a serum ,-HCG of ,5.0 MoM. These women were compared with a control group of women with serum ,-HCG within the 95% confidence interval around the median. Results In the elevated ,-HCG group (,5 MoM) significantly more babies required admission to the special care baby unit (p = 0.02) and were small for gestational age (SGA) (p = 0.03). The mean birth weight was also significantly lower in the group with elevated ,-HCG. Women with a serum ,-HCG of ,5, ,6, ,7 or ,8 MoM were associated with SGA babies in 40, 44, 64 and 86% respectively. All babies born to the six women with ,-HCG of 8.75,24.1 MoM were SGA. Conclusion Increased surveillance is necessary in pregnancies where the maternal serum ,-HCG in the second trimester is inexplicably elevated to ,5 MoM. Copyright © 2007 John Wiley & Sons, Ltd. [source] How important is consent in maternal serum screening for Down syndrome in France?PRENATAL DIAGNOSIS, Issue 3 2007Information, consent evaluation in maternal serum screening for Down syndrome: a French study Abstract Objectives To evaluate the level of information and informed consent for maternal serum screening (MSS) for Down syndrome (DS) in the second trimester of pregnancy and analyse the exercise of autonomy towards the test by the women concerned. Methods We studied the population of pregnant women attending obstetric consultations in two French hospitals over a 3-month period. The women were assigned to three groups according to MSS results for DS: women at high risk of having a child with DS (group 1), women at low risk (group 2) and women who did not undergo the test (group 3). A questionnaire was completed before the medical consultation, to assess the quality of consent before amniocentesis for the group at high risk and before the second-trimester ultrasound scan for the other two groups. Results We analysed 305 questionnaires for 89, 137 and 79 women belonging to groups 1, 2 and 3 respectively. In total, 123 women (40.3% [IC 95%, 35,46%]) were considered to be well informed; 33 (10%, [IC 95%, 8,12%]) had a high level of knowledge, but made choices not consistent with their stated attitude, and 149 (49.7% [IC 95%, 45,56%]) were considered uninformed. Logistic regression analysis showed that maternal consent depended on three independent components: The score attributed to the doctor for information about MSS (t = 4.216, p < 0.001). Whether the patient belonged to group 1 (t = ,2.631, p < 0.009). Educational level (< high-school diploma, high-school diploma or at least two years of higher education after high school) (t = 2.324, p < 0.02). The rate of consent increased with educational level and was highest for the women in group 1 and for those whose doctor had a high information score. Conclusions Our findings clearly show that women are provided with insufficient information concerning MSS screening for DS in the second trimester of pregnancy for real and valid consent to be obtained. Copyright © 2007 John Wiley & Sons, Ltd. [source] Human placental lactogen is a first-trimester maternal serum marker of Down syndromePRENATAL DIAGNOSIS, Issue 1 2007Michael 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] ADAM12-s in coelomic fluid and maternal serum in early pregnancyPRENATAL DIAGNOSIS, Issue 13 2006George Makrydimas Abstract Objectives ADAM12-s is a placental protein. In early pregnancy, reduced maternal levels of ADAM12-s have been reported in association with foetal trisomy 21 or 18 and in cases that subsequently develop pre-eclampsia and foetal growth restriction. The aim of this study is to investigate the distribution of ADAM12-s in early pregnancy by comparing its concentration in maternal serum, amniotic fluid and coelomic fluid. Methods Coelomic fluid was obtained by coelocentesis from 13 singleton pregnancies with live foetuses at 6.9,9.3 weeks of gestation. Maternal serum was also obtained in all cases and in six cases amniotic fluid was also obtained. The concentration of ADAM12-s was measured by dissociation enhanced lanthanide fluoro-immunoassay. Results The median concentration of ADAM12-s in maternal serum was 132.7 (range 33.8,254.5) ng/mL and in coelomic fluid it was 10.5 (range 1.3,15.8) ng/mL; there were no detectable levels in five of the six amniotic fluid samples. The concentration of maternal serum ADAM12-s increased significantly with gestation (r = 0.862, p < 0.0001). There was no significant association between coelomic fluid ADAM12-s and either gestation (r = 0.255, p = 0.401) or maternal serum ADAM12-s (r = 0.302, p = 0.316). Conclusion The distribution of ADAM12-s in maternal serum and the early embryonic fluid compartments is consistent with its syncytiotrophoblastic origin. Copyright © 2006 John Wiley & Sons, Ltd. [source] Second-trimester maternal serum screening for Down syndrome in Mainland ChinaPRENATAL DIAGNOSIS, Issue 13 2006Can Liao No abstract is available for this article. [source] Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3,q31.3) associated with Gorlin syndromePRENATAL DIAGNOSIS, Issue 8 2006Chih-Ping Chen Abstract Objectives To present the perinatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 9q (9q22.3,q31.3) associated with Gorlin syndrome. Methods Amniocentesis was performed at 18 weeks' gestation on a 27-year-old woman at a community hospital because of a high Down syndrome risk of 1/178, a low maternal serum ,-fetoprotein (MSAFP) level of 0.66 multiples of the median (MoM), and a high maternal serum human chorionic gonadotrophin (MShCG) level of 3.13 MoM. The karyotype was initially determined to be 46,XY. However, fetal macrocephaly and overgrowth were found at 30 weeks' gestation. Postnatally, the infant manifested characteristic features of Gorlin syndrome. High-resolution chromosomal bandings of the peripheral blood lymphocytes, polymorphic DNA marker analysis to determine the parental origin of the deletion, array comparative genomic hybridization (CGH) to determine the extent of the chromosomal deletion, and fluorescence in situ hybridization (FISH) to determine the deletion of the PTCH gene were performed. Results The 850-band level of resolution showed an interstitial deletion of 9q (9q22.3,q31.3). The parental karyotypes were normal. The karyotype of the proband was 46,XY,del(9)(q22.3q31.3)de novo. Polymorphic DNA marker analysis revealed that the deletion was of paternal origin. Array CGH revealed that the deleted region was about 12 Mb, encompassing the segment from 9q22.32 to 9q31.3. FISH analysis using the BAC probe RP11-34D4 and the probe RP11-43505 indicated the deletion of the PTCH gene. Conclusions Fetuses with an interstitial deletion of 9q (9q22.3,q31.3) may be associated with a low level of MSAFP and a high level of MShCG in the second trimester, and sonographic findings of overgrowth and macrocephaly in the third trimester. Copyright © 2006 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangementsPRENATAL DIAGNOSIS, Issue 2 2006Chih-Ping Chen Abstract Objectives To present the prenatal diagnosis of a de novo complex chromosomal rearrangement (CCR) associated with de novo interstitial deletions and duplication and to review the literature. Case and Methods Amniocentesis was performed at 18 weeks' gestation because of an increased risk for Down syndrome based on maternal serum ,-fetoprotein and human chorionic gonadotrophin screening. Amniocentesis revealed a karyotype of 46,XY,t(2;18;14)(q33.1;q12.2;q31.2),dup(5)(q34q34),del(7)(p21.1p21.1), del(10)(q25.3q25.3). The parental karyotypes were normal. The pregnancy was terminated. The fetus manifested facial dysmorphism, clinodactyly of both hands, and hypoplasia of the left great toe. Spectral karyotyping (SKY), cytogenetic polymorphism, and polymorphic DNA markers were used to investigate the imbalances and the origin of the de novo aberrant chromosomes. Results SKY showed a three-way CCR. Cytogenetic polymorphism investigation of the derivative chromosome 14 of the fetus and the parental chromosomes 14 determined the maternal origin of the translocation. Polymorphic DNA marker analysis confirmed the maternal origin of the de novo interstitial deletions and duplication. No cryptic imbalance at or near the breakpoints of the CCR was detected by the molecular analysis. Conclusions De novo apparently balanced CCRs may be associated with imbalances in other chromosomes. We suggest further investigation and re-evaluation of cryptic or subtle imbalances in all cases classified as de novo apparently balanced CCRs. 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] Detection of maternal serum hCG glycoform variants in the second trimester of pregnancies affected by Down syndrome using a lectin immunoassayPRENATAL DIAGNOSIS, Issue 1 2003J. A. Talbot Abstract Aim To assess whether glycoform variants of human chorionic gonadotrophin (hCG) are present in altered concentrations in the maternal serum in pregnancies affected by Down syndrome. Methods In a series of 50 cases of pregnancies complicated by Down syndrome and 278 unaffected pregnancies, we have examined maternal serum levels of hCG glycoforms (GlyhCG) in samples collected in the second trimester (14 to 21 weeks) using a sialic acid binding lectin immunoassay. We have compared these levels with those of other second trimester serum markers (Free ,-hCG, alpha fetaprotein (AFP) and Total hCG) and modelled detection rates and false positive rates of various biochemical markers in conjunction with maternal age using a maternal age standardized population. Results Maternal serum GlyhCG in cases of Down syndrome was significantly elevated (Median MoM 1.81) with 15 of 50 (30%) cases above the 95th centile for unaffected pregnancies. Free ,-hCG was also elevated (Median MoM 2.16) with 18 of 50 (36%) cases above the 95th centile. AFP levels were reduced (Median MoM 0.75) with 9 of 50 (18%) cases below the 5th centile. Total hCG levels whilst elevated (Median MoM 1.88) had only 15 of 50 (30%) cases above the 95th centile. Maternal serum GlyhCG levels showed significant correlation with total hCG and free ,-hCG (r = 0.6880 and 0.6922) in the Down group but not with AFP (r = 0.1237). When GlyhCG was combined together with AFP and maternal age, at a 5% false positive rate, the modelled detection rate was 53%, some 13% lower than when free ,-hCG was used and some 7% lower than when total hCG was used. Conclusion Maternal serum GlyhCG, as measured by the sialic acid,binding lectin immunoassay is unlikely to be of additional value when screening for Down syndrome in the second trimester. Copyright © 2002 John Wiley & Sons, Ltd. [source] | |||||||||||||