Search Results
Results 201 - 250 of 832
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Jelliffe-Pawlowski Laura L - - 2008
Congenital heart defects (CHDs) are the most common of all birth defects. For many newborns with a CHD, prenatal versus postnatal detection is associated with substantially decreased morbidity and mortality risks. Although technological advances in fetal echocardiography have led to an increased capacity to detect CHDs prenatally, pregnancies without an ...
Gjerris A C - - 2008
OBJECTIVES: To evaluate, in pregnancies conceived by assisted reproductive technology, whether determination of gestational age (GA) by date of oocyte aspiration (DOA) or crown-rump length (CRL) at first-trimester screening influences the distribution of serum and sonographic markers or the performance of first-trimester screening for chromosomal abnormalities. METHODS: GA was calculated ...
Gagnon Alain - - 2008
OBJECTIVE: To review the obstetrical outcomes associated with abnormally elevated or decreased level of one or more of the most frequently measured maternal serum marker analytes used in screening for aneuploidy. To provide guidance to facilitate the management of pregnancies that have abnormal levels of one of more markers and ...
McGee Deborah Cooper - - 2008
Screening for Down syndrome has become an integral part of prenatal care. In recent years, there has been significant interest in first-trimester screening methods. Increased nuchal translucency in the first trimester of pregnancy has been identified as a marker for chromosomal anomalies and congenital cardiac disease. In addition, research has ...
Abdulkadir Adekunle Y - - 2008
Thanatophoric dysplasia (TD), the most common of the congenital lethal skeletal dysplasias occurs sporadically in 1/64,000-100,000 live births. To the best of our knowledge, the in utero attitudes and behaviours of such babies with serial ultrasound scans have not been previously described. We present the in utero third trimester sonographic ...
Pope Rachel - - 2009
Permanent intolerance to gluten, known as celiac disease, affects both fertility and pregnancy outcomes when left untreated. Recent research on celiac disease and reproduction urge increased screening for celiac disease. While this may be beneficial for couples facing idiopathic infertility or those from particular risk groups, screening involves its own ...
Alvarez-Nava Francisco - - 2008
OBJECTIVE: To assess the usefulness of triple-marker screening for Down syndrome in Venezuela. METHOD: Maternal serum concentrations of alpha fetoprotein (AFP), beta human chorionic gonadotropin (beta-hCG), and unconjugated estriol (uE3) were measured weekly in 3895 women from the 15th to the 20th week of pregnancy. Population-specific likelihood ratios were determined ...
Cleary-Goldman Jane - - 2008
OBJECTIVE: The purpose of this study was to evaluate the Down syndrome detection rate at a 5% screen positive rate in first-trimester screening for twins. STUDY DESIGN: This was a retrospective study from August 2005 to July 2007 of twins who underwent first-trimester screening with nuchal translucency, nasal bone, pregnancy-associated ...
Rappaport Valerie J - - 2008
In the last 3 decades, perinatal medicine has made tremendous advances in scientific knowledge and in the successful application of this knowledge toward understanding the fetal aspects of pregnancy. Evaluation of the health of the fetus and screening for birth defects has become an important part of prenatal care. This ...
Schmidt Peter - - 2008
PURPOSE:: It has been postulated that the maternal age component should be completely excluded from first-trimester screening (FTS) for fetal aneuploidies. In this study, we tested a new algorithm known as advanced first-trimester screening (AFS), which disregards maternal age. METHOD:: In a multicenter study, FTS findings were retrieved from 10,017 ...
Turrentine Mark A - - 2008
OBJECTIVE: To estimate the prevalence of group B streptococci (GBS) colonization in a subsequent pregnancy in women with and without GBS colonization in an index pregnancy. METHODS: A retrospective cohort study of women who had two consecutive deliveries with the availability of GBS culture result at 35 to 37 weeks ...
Kang Jin Hee - - 2008
OBJECTIVES: To estimate the combined screening performance of first and early second trimester prenatal serum markers for Down syndrome, in screening for the development of preeclampsia, and analyze the correlation among marker levels, week of onset, and severity of the disease. METHODS: A retrospective cohort study was carried out on ...
Zuckerman S - - 2008
Gaucher disease (GD) type 1 is the most frequent autosomal recessive disorder among Ashkenazi Jews, but because the phenotype is tremendously variable, including it in the 'Ashkenazi Panel' of carrier screening is controversial. As part of a nationwide study conducted in Israel to evaluate the outcomes of carrier screening for ...
Bennett Ian M - - 2008
Systems for efficient case finding of women with major depression during pregnancy and postpartum are needed. Here we assess the diagnostic accuracy of a modified 2-item patient health questionnaire (PHQ-2) as a pre-screen in assessing depression. Cross-sectional assessments at 15 weeks' gestation (n = 414), 30 weeks' gestation (n = ...
Horvath Gabriella A - - 2008
Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome. MCAD deficiency is diagnosed by acylcarnitine analysis on newborn screening blood spot cards by tandem mass spectrometry. Early diagnosis of MCAD and presymptomatic treatment can potentially reduce morbidity and mortality. To ...
Yakin Kayhan - - 2008
Preimplantation genetic screening (PGS) is a technique that has been introduced into clinical practice to screen and eliminate aneuploid embryos from transfer with the intention to improve implantation rates and decrease pregnancy wastage. Although practiced widely throughout the world, PGS unfortunately has been adopted without being subjected to rigorous scientific ...
Colah Roshan - - 2008
AIM: Premarital screening for beta-thalassemia is not widely acceptable in India; hence, we evaluated the effectiveness of antenatal screening and counseling over 7 years. METHODS: 61,935 pregnant women were screened using the single-tube osmotic fragility test during their first antenatal visit. Individuals who were positive were investigated further for diagnosis ...
Boyd P A - - 2008
OBJECTIVE: To 'map' the current (2004) state of prenatal screening in Europe. DESIGN: (i) Survey of country policies and (ii) analysis of data from EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers. SETTING: Europe. POPULATION: Survey of prenatal screening policies in 18 countries and 1.13 million births in ...
Stockman Brian J - - 2008
19F NMR-based methods have found utility in activity-based screening assays. However, because enzymes catalyze a diverse set of reactions, a large variety of fluorinated substrates would need to be identified to target each one separately. We have developed a more streamlined approach that is applicable to many enzymes that utilize ...
Newson Ainsley J - - 2008
Non-invasive prenatal diagnosis (NIPD) could significantly change the framework for testing and screening in pregnancy. This chapter reviews the ethical implications of this technology, including current issues in prenatal diagnosis, implications for informed consent, possible non-medical uses and options for regulation. The prospect of NIPD normalising screening and termination in ...
Flood Karen - - 2008
PURPOSE OF REVIEW: This review serves to explore literature published during the past year that has focussed on sonographic screening for fetal abnormalities. RECENT FINDINGS: The evolving nature of screening for fetal aneuploidy has continued to feature strongly in recent literature. There is growing interest in early detailed ultrasound of ...
Reynolds Tim - - 2008
Abstract Background: The choice of parameter sets used to calculate Down's syndrome risks is important. This study details analysis of samples from affected and unaffected pregnancies and evaluates whether published population data is optimal. Screening efficiency realized with measurement procedure-specific population parameters is compared with selected population sets available in ...
Gottfredsdóttir Helga - - 2009
BACKGROUND: nuchal translucency (NT) screening, mainly for Down's syndrome, in the first trimester of pregnancy is becoming an established practice in many countries. However, very little is known about parents' knowledge and beliefs prior to undergoing screening. Such information is essential to form guidelines regarding informed decision-making. OBJECTIVES: to explore ...
Dormandy Elizabeth - - 2008
BACKGROUND: Antenatal sickle cell and thalassaemia screening sometimes occurs too late to allow couples a choice regarding termination of affected fetuses. The target gestational age for offering the test in the UK is 10 weeks. AIM: To describe the proportion of women screened before 70 days' (10 weeks') gestation and ...
Pihl Kasper - - 2008
OBJECTIVE: To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-beta (beta-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 ...
Holmgren Calla - - 2008
Ultrasound is a noninvasive tool for early evaluation of the fetus and intrauterine environment. Its limitations include the lack of standardization of evaluation that patients receive, as well as varying sonologist's experience and equipment. Further, many fetuses with aneuploidy will not demonstrate significant sonographic findings, making detection limited. With regard ...
Cheng Po-Jen - - 2008
OBJECTIVE: To document rates of recurrent group B streptococci (GBS) colonization in women with previous GBS colonization in an initial pregnancy and to assess maternal risk factors associated with recurrence. METHODS: A retrospective, longitudinal study was performed in a teaching hospital on women with GBS colonization who were pregnant between ...
Benn Peter A - - 2008
OBJECTIVE: To assess the efficacy of screening for fetal Down syndrome through the sequential provision of second trimester maternal serum tests and fetal ultrasound (the 'genetic sonogram'). METHODS: Monte Carlo modeling was used to generate typical results for second trimester serum screening. Serum test likelihood ratios were then multiplied by ...
Scotet Virginie - - 2008
OBJECTIVE: This study reports 18 years of experience in prenatal diagnosis (PD) of cystic fibrosis (CF) in a region where CF is frequent and the uptake of PD is common (Brittany, western France). METHOD: All PDs made over the period 1989-2006 in women living in Brittany were collected. RESULTS: We ...
Locock Louise - - 2008
England is the only country in the world that currently has universal population screening for haemoglobin disorders through linked antenatal and newborn screening. Little is known about the acceptability of such screening. To explore parents' experiences of, and attitudes towards, new universal genetic screening for haemoglobin disorders. Narrative interview study. ...
Choi Won Jae - - 2008
Several new microorganisms have been isolated from soil samples with high epoxide hydrolase activity toward ethyl 3,4-epoxybutyrate. Screening was performed by enrichment culture on alkenes as sole carbon source, followed by chiral gas chromatography. Eight strains were discovered with enantioselectivity from moderate to high level and identified as bacterial and ...
Seshiah V - - 2008
The policy of screening for gestational diabetes mellitus (GDM) between 24 and 28 weeks of gestation and care has resulted in a few women delivering big babies despite good glycemic control. Hence we undertook a study to assess the merits of care given to women in whom GDM was diagnosed ...
Cuckle Howard S - - 2008
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 beta-human chorionic gonadotrophin (hCG) at 11-13 weeks, ...
Suzuki Masafumi - - 2008
We developed a unique screening system that consists of combination of high photo-sensitivity of photoprotein aequorin (AQ) and our developed high-performance affinity purification system. In the present study, we demonstrated to detect the specific interaction between methotrexate (MTX) and its target dihydrofolate reductase (DHFR) fused with AQ. We succeeded to ...
Wolf C - - 2008
A review is presented of the major clinical features of a number of glycolipidoses including Fabry, Gaucher, Tay-Sachs, metachromatic leukodystrophy as well as CeroidLipofucinosis and Sjogren-Larsson syndrome. The possibilities offered by lipidomics for diagnosis and follow-up after enzyme replacement therapy are presented from a practical perspective. The contribution of HPLC ...
Zoccali G - - 2008
Augmentation mammoplasty is the most frequent request among esthetic surgery procedures but numerous controversies have been raised about the security of the silicone gel prostheses. Today a new question needs an answer: is the prosthesis a risk factor for pregnancy? In this paper the results of a hematochemical study performed ...
Barrett Sandie L - - 2008
OBJECTIVES: To investigate associations between combined first-trimester screen result, pregnancy associated plasma protein-A (PAPP-A) level and adverse fetal outcomes in women. METHODS: Pregnancy outcomes for 10,273 women participating in a community based first-trimester screening (FTS) programme in Western Australia were ascertained by record linkage to birth and birth defect databases. ...
Hsiao C H - - 2008
BACKGROUND: To survey the accuracy of fetal gender determination during first trimester screening and scan for congenital anomalies. METHODS: A prospective observational study was performed on 496 singleton pregnancies at the first trimester ultrasound screening. The doctor was a certified sonographer of first trimester screening by the Fetal Medicine Foundation(FMF). ...
Bestwick Jonathan P - - 2008
OBJECTIVES: To examine the effect of smoking on three first trimester screening markers for Down's syndrome that constitute the Combined test, namely nuchal translucency (NT), pregnancy-associated plasma protein-A (PAPP-A) and free beta human chorionic gonadotophin (free beta-hCG) and to use the results to determine which of these markers need to ...
Kirk Emma - - 2008
OBJECTIVE: To assess the prevalence of Chlamydia trachomatis and its relationship to age, ethnicity, symptomatology, pregnancy location and viability in women attending an Early Pregnancy Unit. METHOD: Women were offered screening for Chlamydia over a 4-month period. Presenting complaints, maternal age, ethnic origin, gestational age, pregnancy location, pregnancy viability and ...
Hardelid P P MRC Centre of Epidemiology for Child Health, UCL Institute of Child Health, London, UK. - - 2008
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism (OMIM 261600). Treatment with a low-phenylalanine diet following early ascertainment by newborn screening prevents impaired cognitive development, the major disease phenotype in PKU. The overall birth prevalence of PKU in European, Chinese and Korean populations is approximately 1/10,000. Since the ...
Pasupathy Dharmintra D Department of Obstetrics and Gynaecology, University of Cambridge, Cambridge, UK. - - 2008
There have been dramatic changes in the approach to screening for aneuploidy over the last 20 years. However, the approach to screening for other complications of pregnancy such as intra-uterine growth restriction, pre-eclampsia and stillbirth remains largely unchanged. Randomised controlled trials of routine application of high tech screening methods to ...
Fallon K E - - 2008
OBJECTIVE: To determine the clinical utility of screening for biochemical parameters in elite athletes. DESIGN: A prospective sequential case series. SETTING: The Department of Sports Medicine at the Australian Institute of Sport. PARTICIPANTS: 100 elite athletes from 11 sports (56 male and 44 female athletes, mean age 19 years, range ...
Huang Tianhua - - 2007
OBJECTIVE: To investigate the association of Down syndrome screening results in successive pregnancies, and assess the impacts of including previous screening results in the current risk estimation on screening performance. METHODS: The study was based on 56,951 women who had triple marker screening in two or more singleton pregnancies in ...
Ozbek N - - 2008
Small gestational age (SGA) is one of the major causes of fetal mortality and morbidity. Altered maternal homeostasis as a result of point mutations in the coagulation cascade has been reported as an important risk factor for this adverse pregnancy outcome. This study aims to investigate the relationship between mother's ...
Vockley Jerry - - 2008
Glutaric aciduria type 2 is increasingly being identified through expanded newborn screening programs by tandem mass spectrometry with a goal of decreasing morbidity and mortality. This article presents 3 patients with adverse outcomes in spite of early recognition by newborn screening. Additional long term studies are necessary to determine the ...
Banzola Irina - - 2007
OBJECTIVE: We evaluated whether a discriminant model of prediction based on quantitative distribution of a panel of biomolecules in maternal serum can discriminate normal pregnancies from those who will develop preeclampsia (PE) prior to onset of clinical symptoms at 11-15 weeks' gestation. METHODS: Case control study encompassing 56 women destined ...
Munné Santiago - - 2007
The intent of this study was to evaluate a recent randomized clinical trial evaluating the effect of preimplantation genetic screening (PGS) that reports a negative effect on pregnancy outcome. This article reviews appropriate PGS techniques and how they differ from the trial in question. A closer look at the clinical ...
Zuckerman Shachar - - 2007
CONTEXT: The aim of carrier screening is to prevent severe, untreatable genetic disease by identifying couples at risk before the birth of an affected child, and providing such couples with options for reproductive outcomes for affected pregnancies. Gaucher disease (GD) is an autosomal recessive storage disorder, relatively frequent in Ashkenazi ...
Shackleton Cedric H L - - 2007
In a large multi-center trial involving prenatal screening for Smith-Lemli-Opitz syndrome (SLOS), we evaluated maternal urine and serum steroid analysis as a non-invasive diagnostic alternative to amniotic fluid sterol analysis. Candidate steroid ratios included: 7-dehydropregnanetriol/pregnanetriol (7-PT/PT), 8-dehydropregnanetriol/PT (8-PT/PT), the sum of these two (7 + 8-PT/PT), and dehydroestriol/estriol (DHE3/E3). Results ...
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