Search Results
Results 251 - 300 of 856
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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. ...
Dormandy Elizabeth E Department of Psychology at Guy's, Health Psychology Section, Institute of Psychiatry, King's College London, London, - - 2008
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. To describe the proportion of women screened before 70 days' (10 weeks') gestation and the delay ...
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 S Hebrew University-Hadassah Medical School, Jerusalem, - - 2007
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 Jews. ...
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 ...
Heinig J - - 2007
OBJECTIVE: To explore if maternal serum free beta-hCG and pregnancy-associated plasma protein A (PAPP-A) levels in the first-trimester of pregnancy are altered in patients with habitual abortions and if there is an effect on first-trimester screening for Down syndrome. METHODS: A retrospective study was conducted on 913 normal singleton fetuses ...
Furlan Julio C - - 2007
STUDY DESIGN: Systematic review. OBJECTIVE: To examine the evidence to support practice guidelines for screening for DVT in asymptomatic adults with acute traumatic spinal cord injury (SCI) who undergo pharmacologic thromboprophylaxis. SUMMARY OF BACKGROUND DATA: Despite the fact that pharmacologic thromboprophylaxis has been widely used since the 1980s, deep venous ...
Schmidt Peter - - 2007
OBJECTIVE: First trimester risk assessment for fetal aneuploidies is computed on the base of a general background risk, which is depending on the maternal age. Thereby, the adjusted risk tends to rise with increasing age. Obversely, more unsuspicious fetal parameters [measurement of the nuchal translucency (NT) and biochemical parameters, free ...
Fowler Christina I - - 2008
OBJECTIVES: Black and Hispanic infants are 19.9 and 10.3 times more likely, respectively, than white infants to develop congenital syphilis (CS), a disease that is preventable with timely prenatal screening and treatment. We examined racial/ethnic group differences in prenatal syphilis screening among pregnant women with equal financial access to prenatal ...
Hening Wayne A - - 2008
BACKGROUND: Because the diagnosis of restless legs syndrome (RLS) depends on clinical features ascertained by interview, it is important to have structured diagnostic instruments that can guide a diagnostician to an accurate diagnosis. With this aim in mind, the RLS Center at Johns Hopkins has been developing the Hopkins telephone ...
Majeroni Barbara A - - 2007
Many sexually transmitted infections are associated with adverse pregnancy outcomes. The Centers for Disease Control and Prevention recommends screening all pregnant women for human immunodeficiency virus infection as early as possible. Treatment with highly active antiretroviral therapy can reduce transmission to the fetus. Chlamydia screening is recommended for all women ...
Mastenbroek Sebastiaan - - 2007
BACKGROUND: Pregnancy rates in women of advanced maternal age undergoing in vitro fertilization (IVF) are disappointingly low. It has been suggested that the use of preimplantation genetic screening of cleavage-stage embryos for aneuploidies may improve the effectiveness of IVF in these women. METHODS: We conducted a multicenter, randomized, double-blind, controlled ...
Palomaki Glenn E - - 2007
PURPOSE: The study purpose was to examine the consequences of using dried blood spots rather than fresh sera in first-trimester Down syndrome screening. METHODS: We collected and compared human chorionic gonadotropin and pregnancy-associated plasma protein-A results from clients providing dried blood spots (Cohort 1) and from other clients providing fresh ...
Heinig J - - 2007
OBJECTIVE: To explore the effect of maternal systemic lupus erythematosus (SLE) on first-trimester screening markers for Down syndrome. METHODS: A retrospective study was conducted on 1150 normal singleton fetuses that underwent first-trimester combined screening for Down syndrome. Fetal delta nuchal translucency (NT), maternal serum PAPP-A and free beta-hCG were compared ...
Newton Stephen J SJ - - 2007
Progesterone, the principal pregestational hormone of the body, is metabolized and produced in the corpus luteum via conversion of pregnenolone. Progesterone functions to prepare the uterus for the reception and development of the fertilized ovum by transformation of the endometrium from the proliferative to the secretory stage. By suppressing menstruation ...
El Bishry Gasser - - 2008
OBJECTIVE: To describe the outcome of pregnancies complicated by isolated fetal ascites. STUDY DESIGN: This is a review of 12 cases of isolated fetal ascites managed at the fetal medicine unit at the Royal Victoria Infirmary in Newcastle. The work-up for ascites included detailed ultrasound examination, checking maternal blood group ...
Towner Dena - - 2007
OBJECTIVE: The purpose of this study was to evaluate miscarriage after mid-trimester amniocentesis for abnormal maternal serum screening. STUDY DESIGN: An analysis of summary data from the California State maternal serum screening program on 32,050 women with an abnormal serum screen, a singleton fetus, and normal ultrasound was performed. Miscarriage ...
Krantz D A - - 2007
OBJECTIVE: Approximately 90% of Down syndrome cases are detected during first-trimester screening. We aimed to determine the potential effectiveness of second-trimester genetic sonography as a sequential screen for Down syndrome. METHODS: In this simulation study, published statistical parameters for first-trimester free beta-human chorionic gonadotropin, pregnancy-associated plasma protein-A and nuchal translucency ...
Jaques A M - - 2007
OBJECTIVE: The objective of this study was to follow up and evaluate the statewide first-trimester combined screening programme for Down syndrome and trisomy 18 at Genetic Health Services Victoria, Australia. DESIGN: Retrospective population cohort. SETTING: Maternal Serum Screening Laboratory records. SAMPLE: All women screened between February 2000 and June 2002 ...
Stoll C - - 2007
Patients with congenital anorectal malformations (ARM) often have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalences at birth of associated malformations in patients of a geographically defined population with ARM which ...
Albright Todd S - - 2007
OBJECTIVE: The purpose of this study was to evaluate pregnancy during war-time deployment. METHODS: A retrospective review of gynecology visits was evaluated at Camp Doha, Kuwait, from August 2003 through April 2004. Of the 1,737 visits, 77 demonstrated a positive pregnancy test. These charts were evaluated for factors that may ...
Craig Wendy Y - - 2007
OBJECTIVE: Determine the relationship between positive screening interpretations for Smith-Lemli-Opitz syndrome (SLOS) and other fetal abnormalities, to aid counseling and diagnostic activities. METHODS: An SLOS screening algorithm was incorporated into California's second-trimester screening program for Down syndrome and open neural tube defects (ONTDs). Between 2002 and 2004, 777 088 pregnant ...
Grifo J - - 2007
We describe our experience of over 300 cycles of preimplantation genetic diagnosis (PGD) and report clinical pregnancy rates (35%-67%) that support using this technology to screen for genetic disorders and chromosomal abnormalities. In clinical practice for over ten years, PGD offers couples the earliest form of genetic screening and may ...
Kjeldsen-Kragh Jens - - 2007
The study's objective was to identify HPA 1a-negative women and to offer them an intervention program aimed to reduce morbidity and mortality of neonatal alloimmune thrombocytopenia (NAIT). HPA 1 typing was performed in 100 448 pregnant women. The HPA 1a-negative women were screened for anti-HPA 1a. In immunized women, delivery ...
Heinig J - - 2007
OBJECTIVES: To examine the effect of early vaginal bleeding on first-trimester screening markers for Down syndrome. METHODS: A retrospective study was conducted on 1755 normal singleton fetuses that underwent first-trimester combined screening for Down syndrome on the basis of ultrasound and maternal serum markers. Fetal delta-nuchal translucency (NT), maternal serum ...
Breathnach Fionnuala M - - 2007
PURPOSE OF REVIEW: This review serves to explore the recent literature regarding aneuploidy screening in both first and second trimesters. We aim to construct a comparative analysis of a range of proposed strategies for screening for trisomy 21. RECENT FINDINGS: First trimester combined screening (sonographic nuchal translucency combined with serum ...
Agarwal Mukesh M - - 2007
OBJECTIVE: To evaluate the value of fasting (FPG) and 2-hour postprandial (PPG) plasma glucose as screening tests for gestational diabetes mellitus (GDM) in a high-risk population during early pregnancy. STUDY DESIGN: At their first prenatal visit, 708 women underwent FPG and PPG for universal screening for GDM, with the diagnosis ...
Yagel Simcha - - 2007
PURPOSE OF REVIEW: This review describes the recent advances in timing and effectiveness of first and early second trimester fetal echocardiography screening. RECENT FINDINGS: Fetal echocardiography can now be reliably performed from 11 weeks' gestation owing to improvements in ultrasound transducers and processors. Three-dimensional and four-dimensional ultrasound modalities in image ...
Muhcu M - - 2007
OBJECTIVE: To find out whether there is considerable influence on second trimester serum concentrations owing to the rhesus status. STUDY DESIGN: This retrospective cohort study was performed at the Perinatology Unit of the GATA Haydarpasa Teaching Hospital. During the study interval, 2265 pregnancies met inclusion criteria. The blood samples were ...
Twisk Moniek - - 2007
OBJECTIVE: Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. DESIGN: Trade-off questionnaires. SETTING: Two university centers for reproductive ...
Schmidt Peter - - 2007
INTRODUCTION: First-trimester screening according to Nicolaides uses maternal age to obtain a common background risk for trisomy 21. The likelihood ratios by nuchal translucency, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A are not with respect to maternal age. It was the aim of this study to investigate if likelihood ...
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