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Affected Pregnancies (affected + pregnancy)

Distribution by Scientific Domains

Life Sciences	76%
Medical Sciences	23%

Selected Abstracts

Risk prediction for Down's syndrome in young pregnant women using maternal serum biomarkers: determination of cut-off risk from receiver operating characteristic curve analysis

JOURNAL OF EVALUATION IN CLINICAL PRACTICE, Issue 2 2007
Hsiao-Lin Hwa MD PhD
Abstract Objective, The aim of this study was to establish a predictive model for Down's syndrome using maternal age as well as maternal serum levels of alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG), and to identify an optimal cut-off risk in women under the age of 35 years to improve sensitivity. Methods, Logistic regression models were utilized to predict fetal Down's syndrome as a function of maternal age and logarithm of levels of AFP as well as hCG using training data of 20 pregnancies with fetal Down's syndrome and 9730 unaffected pregnancies. Validation was performed using data of another nine affected pregnancies and 3496 unaffected pregnancies. Receiver operating characteristic (ROC) curves were plotted. Results, Based on the newly established logistic regression equations, the optimal cut-off risk from the ROC curve analysis was at 1:499, with a 17.8% false-positive rate and a 90.0% sensitivity. A suboptimal cut-off risk was estimated at 1:332, with a 12.0% false-positive rate and an 80% sensitivity. Conclusion, A predictive model for Down's syndrome was developed using logistic regression. By ROC curve analysis and clinical consideration, the cut-off risk for young pregnant women could be determined. [source]

Management of red cell alloimmunisation in pregnancy: the non-invasive monitoring of the disease

PRENATAL DIAGNOSIS, Issue 7 2010
Sebastian Illanes
Abstract Haemolytic disease of the fetus and newborn (HDFN) due to red cell alloimmunization was a significant cause of fetal and neonatal morbidity and mortality until the introduction of anti-D immunoglobulin, which has dramatically changed the incidence of the disease. However, it is still a major problem in affected pregnancies. The emphasis of current clinical management has shifted from an invasive approach to non-invasive monitoring of the disease. The key elements of the modern management are determining which fetuses are at risk of HDFN with the use of cell-free fetal DNA in maternal plasma (fetal RHD genotype) and the follow-up of antigen positive fetuses by Doppler ultrasonography to detect anaemia severe enough to need treatment. When anaemia is suspected, an invasive approach is still required in a timely manner for confirmation of the degree of anaemia and to administer blood transfusions. This non-invasive approach prevents unnecessary administration of human-derived blood products, with the consequent ethical and cost implications and most importantly avoids iatrogenic conversion of mild to severe disease by avoiding need for techniques such as amniocentesis. The potential problem of the non-invasive approach is the reduction in the total number of invasive procedures, with the subsequent difficulty of maintaining the skills required to perform them. Copyright © 2010 John Wiley & Sons, Ltd. [source]

Prenatal diagnosis of a Turkish Bartsocas,Papas syndrome case with upper limb pterigia

PRENATAL DIAGNOSIS, Issue 6 2007
Gülay Ceylaner
Abstract Objectives Bartsocas,Papas syndrome is a severe, autosomal recessive syndrome. The major findings are severe popliteal webbing, ankyloblepharon, syndactyly, orofacial clefts, filiform bands, hypoplastic nose and ectodermal anomalies. We report a Turkish family with three affected pregnancies and a fetus prenatally diagnosed and terminated in pregnancy. Methods Obstetric ultrasound, amniocentesis and postmortem evaluation were done. Results Obstetric ultrasound presented lower limb malformations and facial findings. Postmortem fetal evaluation showed severe lower limb findings, less severe upper limb involvement and classical facial features of the syndrome. Conclusion Upper limb pterygia is an unusual finding and reported in just two patients who were classified as having multiple pterygium syndrome, Aslan Type (605203) in the OMIM catalogue. We thought, as did many other authors, that those cases were consistent with Bartsocas-Papas syndrome and upper limb involvement less severe than lower limb findings as rare findings of this syndrome. Copyright © 2007 John Wiley & Sons, Ltd. [source]

X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings

PRENATAL DIAGNOSIS, Issue 13 2006
Shalini Umranikar
Abstract Objective To report our experience of the prenatal diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2) and highlight its variable phenotypic presentation. Methods We report the sonographic features of three female fetuses affected with CDPX2. The ultrasound, radiographic and pathological findings were compared. Results Family 1: Two affected pregnancies, both terminated. Fetus 1: Presented with epiphyseal stippling involving the vertebrae, upper and lower limbs, asymmetric shortening of the long bones and flat facial profile. Fetus 2: Prenatal findings included premature epiphyseal stippling, paravertebral cartilaginous calcific foci, mild shortening of the long bones and flat facies. Mutation analysis of the mother and both fetuses revealed mutation in the emopamil-binding protein (EBP) gene. Family 2: Prenatal sonography showed scattered epiphyseal stippling, minimal vertebral segmentation anomalies, mild asymmetric limb shortening and flat facies. Female infant delivered at 39 weeks of gestation. Biochemical analysis in all three fetuses showed increased levels of serum 8(9)-cholestenol consistent with delta (8), delta (7)-isomerase deficiency and CDPX2. Conclusion Prenatal diagnosis of CDPX2 is difficult because of marked phenotypic variation. Epiphyseal stippling, ectopic paravertebral calcifications, asymmetric shortening of long bones and dysmorphic flattened facies are crucial for prenatal diagnosis. DNA analysis of the CDPX2 gene and biochemical determination of the serum 8(9)-cholestenol level are important for diagnosis, especially if future pregnancies are planned. Copyright © 2006 John Wiley & Sons, Ltd. [source]

The "Consecutive Combined Test",using Double test from week 8 + 0 and Nuchal Translucency Scan, for first trimester screening for Down Syndrome

PRENATAL DIAGNOSIS, Issue 12 2006
Kirsten Marie Schiøtt
Abstract Objective To test the performance of the "Consecutive Combined Test", applied on a high-risk population. The classic "Combined Test" (Double test (DT) and Nuchal Translucency (NT) measurement on the same day at app. week 12) gives detection rates (DR) for Down syndrome (DS) of 80,90% for false positive rates (FPR) of 5%. In affected pregnancies, however, the low PAPP-A level is more pronounced, the earlier in pregnancy. Thus, we hypothesized that the Double Test could be taken as early as from week 8 + 0, without compromising the excellent performance of the Combined Test. This "Consecutive Combined Test" allows for a centralised laboratory function. Methods Inclusion criteria were maternal age > 35 years (80%) or a family history (20%). Double test was taken at a median gestational age (GA) = 10 weeks. NT was measured at GA = 11 + 0 , 13 + 6. A combined risk estimate of > 1:400 at birth was used as cut-off. Results 881 had the full test. Screen positive = 34. CVS with aneuploidy = 11 (6 trisomy-21, 5 others). FPR = 3.2%. Positive Predictive Value (PPV) = 17.6% for T-21. Conclusion The "Consecutive Combined Test" applied on a high-risk population seems to be highly efficient with a remarkably high PPV. Copyright © 2006 John Wiley & Sons, Ltd. [source]

Sequential and contingent prenatal screening for Down syndrome

PRENATAL DIAGNOSIS, Issue 9 2006
Nicholas 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]

Health professionals' reports of information given to parents following the prenatal diagnosis of sex chromosome anomalies and outcomes of pregnancies: a pilot study

PRENATAL DIAGNOSIS, Issue 7 2003
Sue Hall
Abstract Objectives To examine the association between the information health professionals report providing parents about sex chromosome anomalies (SCAs) and the outcomes of affected pregnancies. Methods Telephone interviews were conducted with health professionals who disclosed the prenatal diagnosis of an SCA to parents. The statements they reported providing to parents about the condition were coded as positive, neutral or negative. Outcomes of the pregnancies were obtained from medical records. Results Six of the 23 pregnancies were terminated. Health professionals reported giving parents of these six cases a greater amount of negative information about an SCA than did the health professionals reporting on the information given to the parents who continued with their pregnancies. Health professionals reported giving a similar amount of positive and neutral information to both groups of parents. Conclusion The results of this pilot study suggest that there is a positive association between the amount of negative information parents are given initially about a sex chromosome anomaly and the decision to terminate the affected pregnancy. This study is limited by its small sample size and reliance on health professionals' self-reports of information provided to parents. Larger, prospective studies in which consultations are tape-recorded and linked to parents' subsequent decision making and adjustment are needed. Copyright © 2003 John Wiley & Sons, Ltd. [source]

Maternal serum levels of dimeric inhibin A in pregnancies affected by trisomy 21 in the first trimester

PRENATAL DIAGNOSIS, Issue 6 2001
Kevin Spencer
Abstract Dimeric inhibin A was measured in maternal serum samples from 45 pregnancies affected by trisomy 21 and 493 samples from unaffected pregnancies at 10,14 weeks of gestation. Inhibin A levels in affected pregnancies were compared with levels of free ,-hCG and PAPP-A in the same series. In the trisomy 21 group, the median multiple of the median (MoM) inhibin A was not significantly elevated (1.28 vs 1.00) with only 15.5% being above the 95th centile. In contrast, the median MoM free ,-hCG was significantly increased (2.05 vs 1.00) with 36% above the 95th centile and PAPP-A was significantly reduced (0.49 vs 1.00) with 42% below the 5th centile. Inhibin A levels in the trisomy 21 group were significantly correlated with gestational age such that median levels rose from 1.04 at 11 weeks to 1.30 at 12 weeks and 1.67 at 13 weeks. These findings suggest that first trimester biochemical screening for trisomy 21, which is currently optimised using maternal serum free ,-hCG and PAPP-A and fetal nuchal translucency, will not benefit from the inclusion of inhibin A. Copyright © 2001 John Wiley & Sons, Ltd. [source]

Failure of intravenous immunoglobulin to prevent congenital heart block: Findings of a multicenter, prospective, observational study

ARTHRITIS & RHEUMATISM, Issue 4 2010
C. N. Pisoni
Objective Congenital heart block (CHB) is presumed to be caused by transplacental passage of maternal immunoglobulin against Ro and La ribonucleoproteins. The recurrence rate in subsequent pregnancies following the birth of a child with CHB is ,19%. The purpose of this study was to determine whether intravenous immunoglobulin (IVIG) therapy could prevent the development of CHB in the fetuses of high-risk pregnant women. Methods A total of 24 pregnancies in 22 women who had a previous pregnancy in which CHB developed, were over the age of 18 years, were <12 weeks pregnant, and had anti-Ro, anti-La, or both antibodies were monitored in this multicenter, prospective, observational study. Fifteen patients received infusions of IVIG. The 9 pregnancies in the remaining 7 patients served as controls. IVIG was administered at a dose of 400 mg/kg at weeks 12, 15, 18, 21, and 24 of pregnancy. Echocardiograms were performed at least every 3 weeks from week 15 to week 30 of gestation. Electrocardiograms were obtained at birth. The outcome measure was the development of third-degree CHB detected by fetal echocardiogram. Results CHB developed in 3 babies among the 15 pregnancies in the treatment group (20%) and in 1 baby among the 9 pregnancies in the control group (11%). CHB was detected at weeks 18, 23, and 26, respectively, in the 3 babies in the treated group and at week 19 in the baby in the control group. Three of the affected pregnancies ended in termination; 2 for reasons related to the fetal disease and 1 for reasons related to both maternal (severe pulmonary hypertension) and fetal disease (at 21 weeks of gestation). Conclusion IVIG at the dose and frequency used in this study was not effective as prophylactic therapy for CHB in high-risk mothers. [source]

Neural tube defects and maternal biomarkers of folate, homocysteine, and glutathione metabolism,

BIRTH DEFECTS RESEARCH, Issue 4 2006
Weizhi Zhao
Abstract BACKGROUND Alterations in maternal folate and homocysteine metabolism are associated with neural tube defects (NTDs). The role played by specific micronutrients and metabolites in the causal pathway leading to NTDs is not fully understood. METHODS We conducted a case-control study to investigate the association between NTDs and maternal alterations in plasma micronutrients and metabolites in two metabolic pathways: methionine remethylation and glutathione transsulfuration. Biomarkers were measured in a population-based sample of women who had NTD-affected pregnancies (n = 43) and a control group of women who had a pregnancy unaffected by a birth defect (n = 160). We compared plasma concentrations of folate, vitamin B12, vitamin B6, methionine, S-adenosylmethionine (SAM), s-adenosylhomocysteine (SAH), adenosine, homocysteine, cysteine, and reduced and oxidized glutathione between cases and controls after adjusting for lifestyle and sociodemographic factors. RESULTS Women with NTD-affected pregnancies had significantly higher plasma concentrations of SAH (29.12 vs. 23.13 nmol/liter, P = .0011), adenosine (0.323 vs. 0.255 ,mol/liter; P = .0269), homocysteine (9.40 vs. 7.56 ,mol/liter; P < .001), and oxidized glutathione (0.379 vs. 0.262 ,mol/liter; P = .0001), but lower plasma SAM concentrations (78.99 vs. 83.16 nmol/liter; P = .0172) than controls. This metabolic profile is consistent with reduced methylation capacity and increased oxidative stress in women with affected pregnancies. CONCLUSIONS Increased maternal oxidative stress and decreased methylation capacity may contribute to the occurrence of NTDs. Further analysis of relevant genetic and environmental factors is required to define the basis for these observed alterations. Birth Defects Research (Part A), 2006. © 2006 Wiley-Liss, Inc. [source]

,Balance' is in the eye of the beholder: providing information to support informed choices in antenatal screening via Antenatal Screening Web Resource

HEALTH EXPECTATIONS, Issue 4 2007
Shenaz Ahmed BSc (Hons) PhD
Abstract Objectives, The Antenatal Screening Web Resource (AnSWeR) was designed to support informed prenatal testing choices by providing balanced information about disability, based on the testimonies of disabled people and their families. We were commissioned by the developers to independently evaluate the website. This paper focused on how participants evaluated AnSWeR in terms of providing balanced information. Setting, West Yorkshire. Participants, A total of 69 people were drawn from three groups: health professionals, people with personal experience of tested-for conditions (Down's syndrome, cystic fibrosis and spina bifida) and people representing potential users of the resource. Method, Data were collected via focus groups and electronic questionnaires. Results, Participants believed that information about the experience of living with the tested-for conditions and terminating a pregnancy for the conditions were important to support informed antenatal testing and termination decisions. However, there were differences in opinion about whether the information about the tested-for conditions was balanced or not. Some people felt that the inclusion of photographs of people with the tested-for conditions introduced biases (both positive and negative). Many participants were also of the opinion that AnSWeR presented insufficient information on termination of an affected pregnancy to support informed choice. Conclusion, This study highlighted the difficulty of designing ,balanced' information about tested-for conditions and a lack of methodology for doing so. It is suggested that AnSWeR currently provides a counterbalance to other websites that focus on the medical aspects of disability. Its aim to provide ,balanced' information would be aided by increasing the number and range of case studies available on the website. [source]

Health professionals' reports of information given to parents following the prenatal diagnosis of sex chromosome anomalies and outcomes of pregnancies: a pilot study

Accuracy of trisomy 18 screening using the second-trimester triple test

PRENATAL DIAGNOSIS, Issue 6 2003
Chris 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. [source]