Search Results
Results 451 - 500 of 853
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Wald N J - - 2003
Cystic fibrosis is a serious disorder. Research into the treatment of affected individuals is in progress, but a cure is not expected in the near future. In this review, we demonstrate that prenatal screening for cystic fibrosis meets the requirements for a worthwhile screening programme. We explain the reasons that ...
Rubin Lewis P - - 2003
This review summarizes state-of-the-art and emerging techniques in the antenatal diagnosis of fetal anemia and hemoglobinopathies. Fetal anemia may result from hemolytic disease, hemorrhage, suppression of erythropoiesis, infection (eg, parvovirus B19), or trauma. The clinical laboratory plays an essential role in the evaluation of these disorders by way of the ...
Scotet Virginie - - 2003
Taking into account the situation of Brittany, a region of western France where cystic fibrosis (CF) is common and where a neonatal screening program was set up 14 years ago, the aim of this study was to determine the way in which the birth prevalence of CF has been influenced ...
Cuckle H - - 2003
A multicentre study was carried out to determine the frequency and clinical consequences of extremely high maternal serum pregnancy-associated plasma protein (PAPP)-A. There was a total of 79 pregnancies with PAPP-A exceeding 5.0 multiples of the gestation-specific median in a series of 46 776 pregnancies tested (0.2%) at the 7 ...
Turner Michael J - - 2003
OBJECTIVE: To determine if the RhD status of the fetus can be detected in an unselected group of RhD-negative women with ongoing pregnancies booking for routine antenatal care. MATERIAL AND METHODS: We obtained 2.5 ml of whole blood from 202 unselected women with a normal ongoing pregnancy who booked for ...
Leung Wing Cheong - - 2003
To determine whether amnio-polymerase chain reaction (amnio-PCR) can replace conventional cytogenetic study for confirming the karyotype of fetuses in women with positive biochemical screening for fetal Down syndrome. To check the accuracy of this technique in our laboratory, we first compared the amnio-PCR results with those of conventional cytogenetic study ...
Davoren Anne - - 2003
OBJECTIVE: Fetomaternal mismatch for human platelet antigen (HPA)-1a accounts for approximately 85% of cases of neonatal alloimmune thrombocytopenia. The purpose of the study was to determine the prevalence of the HPA-1a negative platelet phenotype in a cohort of pregnant women in Ireland, the rate of alloimmunisation to HPA-1a in HPA-1 ...
Artz Laura A - - 2003
Group B streptococci (GBS) are the most frequent pathogens in neonates with sepsis. A rapid screening method is required to identify carriage of GBS in pregnant women at the time of delivery. In order to detect GBS in vaginal specimens, the efficiency of the standard culture versus fluorescent in situ ...
Sander Johannes - - 2003
In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 micro mol/l, not corrected for recovery) was identified ...
Hansen Søren Mose - - 2003
Maternal prenatal screening for group B streptococci (GBS) followed by offering of intrapartum chemoprophylaxis to carriers is one of the strategies used to reduce the incidence of neonatal early-onset GBS infections. Culturing of vaginal and anorectal swab specimens in selective broth is the screening procedure recommended by the Centers for ...
Macmillan Susan - - 2003
OBJECTIVES: To compare four methods of screening women for Chlamydia trachomatis in an obstetrics and gynaecology department. STUDY DESIGN: A total of 303 healthy women under 25 years were recruited from antenatal, induced abortion, and family planning clinics. Each underwent parallel testing of endocervical specimens by enzyme immunoassay (EIA) and ...
Benn Peter A - - 2003
OBJECTIVE: To evaluate the efficacy of the second-trimester quadruple test (maternal serum alpha-fetoprotein, unconjugated estriol, human chorionic gonadotropin, and inhibin-A) in prenatal screening for Down syndrome. METHODS: All quadruple tests performed on singleton pregnancies over a 32-month period were reviewed. The sensitivity and false-positive rates were compared with the theoretic ...
Farina Antonio - - 2003
BACKGROUND: Second-trimester cell-free fetal DNA (studied only in pregnancies with male fetuses) is higher in maternal serum samples from women carrying Down syndrome fetuses than in unaffected pregnancies. In this study we evaluated the potential performance of fetal DNA as a screening marker for Down syndrome. METHODS: Data on maternal ...
Taipale Pekka - - 2003
OBJECTIVE: To assess the value of first trimester screening by ultrasonography in detecting structural anomalies of the fetus in a general obstetric population. METHODS: During 1993-1998, 20,465 consecutive pregnant women who resided in a defined geographic area participated in ultrasonographic screening for major malformations. These included anomalies of the central ...
Casaccia G - - 2003
To determine the incidence of cystic fibrosis (CF) in neonates with intestinal obstruction (NIO) secondary to meconium ileus (MI), jejunoileal atresia (JA), meconium plug syndrome (MPS), volvulus (V), and meconium peritonitis (MP) and analyze the correlation of ultrasonographic (US) signs with CF in NIO with a prenatal diagnosis of intestinal ...
Begbie M E - - 2003
Hereditary haemorrhagic telangiectasia (HHT) affects one in 5-8000, and no longer can be viewed as solely causing anaemia (due to nasal and gastrointestinal bleeding) and characteristic mucocutaneous telangiectasia. Arteriovenous malformations commonly occur, and in the pulmonary and cerebral circulations demand knowledge of risks and benefits of asymptomatic screening and treatment. ...
Erem Cihangir - - 2003
OBJECTIVE: The purposes of this study were to determine the prevalence of gestational diabetes mellitus (GDM) in Trabzon city of Turkey and to identify appropriate risk factors for gestational diabetes in pregnant mothers. RESEARCH DESIGN AND METHODS: Eight hundred and seven adult pregnant women were screened for GDM with a ...
Poppelaars Francis A M - - 2003
BACKGROUND: Since the identification of the cystic fibrosis (CF) gene, large-scale CF carrier screening has become possible. One possible target group is couples planning a pregnancy (preconceptional screening), providing a maximum number of reproductive options and a minimum of time constraints. OBJECTIVES: To identify obstacles in the implementation of a ...
Christiansen M - - 2003
Pregnancy-associated plasma protein A (PAPP-A) is a maternal serum marker of fetal chromosomal disease and a risk marker for adverse outcome. PAPP-A in the circulation exists both as a 2:2 complex (PAPP-A/proMBP) with the proform of eosinophil major basic protein (proMBP) and as dimeric PAPP-A. Non-PAPP-A containing proMBP complexes constitute ...
Spencer Kevin - - 2002
AIM: To assess whether the uptake of prenatal screening for trisomy 21 in a subsequent pregnancy is influenced by being classified in the 'increased risk' or 'not at increased risk' group in the first pregnancy. SETTING: District General Hospital Maternity Unit. METHODS: Amongst a group of women attending for maternity ...
Snijders Rosalinde - - 2002
PURPOSE OF REVIEW: An update of findings from studies on first trimester nuchal translucency screening. RECENT FINDINGS: New first trimester markers can substantially improve efficacy of screening. When fully informed, preliminary data indicate that women prefer first trimester above second trimester testing. SUMMARY: Recent reports on nuchal translucency screening reiterate ...
Yang Zi - - 2002
Acute fatty liver of pregnancy (AFLP) and hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome are serious complications of pregnancy. Studies in families with recessively inherited mitochondrial trifunctional protein defects documented an association between these maternal illnesses and fetal deficiency of long-chain 3-hydroxyacyl coenzyme A dehydrogenase; this enzyme resides ...
Donnenfeld Alan E - - 2002
OBJECTIVE: The purpose of this study was to compare the screening efficacy for aneuploidy detection in ovum donor pregnancies with the use of either the age of the ovum donor or the ovum recipient. STUDY DESIGN: Second-trimester biochemical screening for aneuploidy with alpha-fetoprotein, unconjugated estriol, and human chorionic gonadotropin was ...
Chen Shu-Hung - - 2002
The genetic manipulation of donor cells before nuclear transfer (NT) enables prior selection for transgene integration. However, selection for genetically modified cells using antibiotic drugs often results in mixed populations, resulting in a mixture of transgenic and nontransgenic donor cells for NT. In this study, we attempted to develop efficient ...
Benn Peter A - - 2002
BACKGROUND: The acceptability of prenatal screening and diagnosis of Down syndrome is dependent, in part, on the gestational age at which the testing is offered. First trimester screening could be advantageous if it has sufficient efficacy and can be effectively delivered. ISSUES: Two first trimester maternal serum screening markers, pregnancy-associated ...
Brundage Stephanie C - - 2002
Genetics is an important area of focus for the preconception visit (Table 4). Folic acid should be recommended for all women. The genetic and pregnancy history should be evaluated for clues to a genetic disorder. Preconception screening and counseling are available for many diseases that are indicated in the family ...
Prefumo Federico - - 2002
The agreement between predicted risks of Down syndrome and observed prevalence was investigated in a population of 11,847 singleton pregnancies screened by first trimester nuchal translucency at a single institution. Twenty-seven cases of Down syndrome were observed; 20 were detected prenatally by nuchal translucency and maternal age screening, three by ...
Muller Françoise - - 2002
OBJECTIVES: In France, maternal serum marker screening is governed by specific legislation. We conducted a study of the countrywide trisomy 21 screening based on second trimester maternal serum markers. METHODS: We reviewed the medical records of 854,902 patients prospectively screened for second trimester maternal serum markers in the 60 authorized ...
Spencer Kevin - - 2002
OBJECTIVES: To assess the level of correlation of first trimester biochemical and biophysical markers of Down syndrome between different pregnancies in the same individual. To assess the impact that between pregnancy biological variability has on the likelihood that women who are at increased risk in a first pregnancy being also ...
Carvalho J S - - 2002
To evaluate the effectiveness of adding outlet views to the four chamber view in routine prenatal ultrasound screening for major congenital heart defects (CHD) as performed by trained sonographers, and to compare the procedure with current practice. Prospective observational study at a London teaching hospital. 9277 women booked at a ...
Czeizel E - - 2002
The Hungarian total (birth + fetal) prevalences of different developmental abnormalities offer a possibility to estimate the proportion of preventable development abnormalities. The effectiveness of primary, secondary and tertiary preventive methods are evaluated with a particular emphasis of primary prevention based on periconceptional folic acid or folic acid-containing multivitamin supplementation. ...
Chitayat David - - 2002
OBJECTIVE: The study was designed to evaluate whether double positive maternal serum screening results for Down syndrome and open neural tube defects indicate an increased risk of adverse perinatal outcome. STUDY DESIGN: A retrospective case-control study was conducted. In a cohort of 170,394 women who underwent maternal serum triple screening ...
Yang Xilin - - 2002
OBJECTIVE: This article tests the hypothesis that women with impaired glucose tolerance (IGT) have the same pregnancy outcomes as those of their counterparts with normal glucose tolerance. RESEARCH DESIGN AND METHODS: From December 1998 to December 1999, 84 of 90 antenatal care base units (ACBUs) under the Tianjin Antenatal Care ...
Ødegaard Inger - - 2002
BACKGROUND: As patients with cystic fibrosis now live longer, more women with cystic fibrosis wish to become mothers. We looked at the prevalence and outcome of pregnancies in women with cystic fibrosis who were alive in Norway and Sweden in the year 2000. METHODS: Women with cystic fibrosis aged 18 ...
Heeney Matthew M - - 2002
Newborn screening for hemoglobinopathies rarely produces a fetal hemoglobin only result; it is most consistent with beta-thalassemia major, although other diagnoses are possible. The authors describe two unrelated African-American babies born in North Carolina whose newborn screening revealed fetal hemoglobin only. Both had a relatively benign clinical and hematologic picture. ...
Lam Yung Hang - - 2002
BACKGROUND: It is uncertain whether first trimester nuchal translucency (NT) is more effective than the well-established second trimester serum screening for fetal Down syndrome or whether their combination works best. We report data from a large multicentre non-interventional trial in which all subjects underwent both first and second trimester screening. ...
Mol Ben W J - - 2002
BACKGROUND: Transvaginal sonography, serum human chorionic gonadotrophin (hCG) measurement, and serum progesterone measurement provide the possibility to screen symptom-free women at increased risk of ectopic pregnancy. The objective of the present study was to evaluate the cost-effectiveness of screening for ectopic pregnancy, by addressing the expected benefits and costs of ...
Nicolaides K H - - 2002
Prenatal diagnosis of trisomy 21 requires an invasive test in women considered to be at high risk after screening. At present, there are four screening tests. For a 5% false-positive rate, the sensitivities are approximately 30% for maternal age alone, 60-70% for maternal age and second-trimester maternal serum biochemical testing, ...
Nahum Gerard G - - 2002
OBJECTIVE: To investigate the relationship between one-hour, 50-g oral glucose screening test results in successive pregnancies and to assess the risk of gestational diabetes in women who had a previously negative glucose screening test during a prior pregnancy. STUDY DESIGN: Sixty-nine women were studied who had successive pregnancies delivered at ...
Muller F - - 2002
Hyperechogenic fetal bowel is prenatally detected by ultrasound during the second trimester of pregnancy in 0.1-1.8% of fetuses. It has been described as a normal variant but has often been associated with severe diseases, notably cystic fibrosis (CF). The aim of our study was to determine the risk of CF ...
Tanriverdi Hamit Alper - - 2002
We report of a case of Meckel Gruber Syndrome (MGS) in a woman, who suffered previously from a pregnancy with the same disorder. MGS, consisting of an occipital encephalocele, bilateral cystic kidneys and postaxial polydactyly, is a rare autosomal recessive disorder, with a recurrence risk of 25%. With the present ...
Maymon R - - 2002
During the last 2 decades various non-invasive Down syndrome (DS) screening methods were introduced in clinical practice. However, specific problems were encountered when these methods were applied for twin pregnancies. The current review aims to explore the problematic issue of antenatal DS screening in twins. The implication and the adjusted ...
Jesse D Elizabeth - - 2002
Routine screening for risk factors in pregnancy is one of the major components of prenatal care that is highly recommended, yet few risk assessment systems have a comprehensive view. This investigation examined prenatal risk assessment from a comprehensive perspective to identify biophysical, psychosocial, spiritual, and perceptual factors in pregnancy affecting ...
Vintzileos Anthony M - - 2002
OBJECTIVE: To estimate the value of second-trimester genetic sonography in detecting fetal Down syndrome in patients with advanced maternal age (at least 35 years) and normal triple screen. METHODS: Since July 1999, a prospective collection and recording of all individual triple screen risks for fetal Down syndrome was initiated for ...
Stevens-Simon C - - 2002
OBJECTIVE: To test the utility of screening the urine samples used to diagnose pregnancies at urban teen clinics for Chlamydia trachomatis and Neisseria gonorrhoeae by polymerase chain reaction (PCR). We hypothesized that urine screening would increase the proportion of teenagers treated for these two sexually transmitted diseases (STDs) before they ...
Thomas Kevin - - 2002
Guidelines drawn up for patients undergoing termination of pregnancy state that there should be a protocol for either screening or treating for Chlamydia trachomatis. So far guidelines for other techniques that require instrumentation of the uterus (e.g. hysterosalpingography) remain unclear and controversial. By looking for other less invasive techniques we ...
Maymon Ron - - 2002
Assisted reproductive techniques have increased the number of pregnant women beyond the age of 35 years and the incidence of multiple pregnancies. Various non-invasive screening methods for Down's syndrome were introduced in clinical practice during the past two decades. Specific problems were encountered when these methods were applied for pregnancies ...
Christiansen Michael - - 2002
The variation of risk estimates in second trimester maternal serum screening for Down's syndrome has been shown to be considerable in quality control schemes, i.e. UKNEQAS. We studied the biological variation of risk estimates in 16 women through pregnancy. The maternal serum markers alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), unconjugated ...
Xiong Quanbo - - 2002
Smith-Lemli-Opitz syndrome (SLOS; MIM 270400) is a genetic disorder characterized by hypocholesterolemia and elevated 7-dehydrocholesterol (7DHC) levels resulting from mutations affecting 7-dehydrocholesterol reductase. We describe a colorimetric assay for 7DHC with potential application to large-scale screening for SLOS. Reaction of 7DHC and its esters with the Liebermann-Burchard reagent resulted in ...
Einarson Adrienne - - 2002
Some of my patients have been diagnosed with bacterial vaginousis (BV) during pregnancy; some have symptoms, others do not. Should I be treating them, and if so, with what? Also, should I be screening all my pregnant patients for BV? There appears to be no benefit to screening or treating ...
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