Search Results
Results 451 - 500 of 832
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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 ...
Levi Salvator - - 2002
Ultrasound for routine fetal malformation screening has been polemical from its early beginning because of the very broad range of diagnosis rates disclosed, i.e. from 13% to 82%, average 27.5%. A review of available studies is proposed to assess objectively the efficacy of ultrasound, considering also economical, ethical and methodological ...
Maymon R - - 2002
BACKGROUND: It has been reported that second-trimester serum markers may be affected by assisted reproduction, leading to a higher false-positive rate. METHODS: A total of 285 naturally and 71 IVF-conceived singletons which underwent a serial disclosure Down's syndrome screening programme were compared. The study protocol included first-trimester combined [nuchal translucency ...
Hanning Ian - - 2002
Maternal serum screening for Down's syndrome and trisomy 18 identifies pregnancies with a greater risk of these abnormalities, which are then followed-up by karyotyping of cells collected either by amniocentesis or by chorionic villus sampling. These techniques complement ultrasonography, which gives accurate gestational dating as well as identifying structural abnormalities. ...
Graves J Christopher - - 2002
According to the American College of Obstetricians and Gynecologists, it has become standard in prenatal care to offer screening tests for neural tube defects and genetic abnormalities. There have been some changes in the recommended method of prenatal screening over the past few years, and research to improve detection rates ...
- - 2002
Newborns in the United States are screened for phenylketonuria (PKU), a metabolic disorder that when left untreated is characterized by elevated blood phenylalanine (phe) levels and severe mental retardation (MR). An estimated 3,000-4,000 U.S.-born women of reproductive age with PKU have not gotten severe MR because as newborns their diets ...
Palomaki G E - - 2002
OBJECTIVES: To design a reliable model in the context of prenatal screening for assigning the risk in an individual pregnancy of Smith-Lemli-Opitz syndrome (SLOS) and assess its performance. Setting: A 2nd trimester screening programme for Down's syndrome that measures unconjugated estriol (uE3) along with other serum markers. METHODS: Development of ...
Kemp David T - - 2002
Otoacoustic emissions (OAEs) are sounds of cochlear origin, which can be recorded by a microphone fitted into the ear canal. They are caused by the motion of the cochlea's sensory hair cells as they energetically respond to auditory stimulation. OAEs provide a simple, efficient and non-invasive objective indicator of healthy ...
Holding Stephen - - 2002
Down's syndrome has an incidence of about 1.3 per 1000 births. Antenatal testing for this disorder on the basis of maternal age has been common practice (increasing age is associated with increasing risk of having an affected pregnancy). Since the late 1980s it has been possible to calculate a pregnancy-specific ...
Uncu Y - - 2002
The incidence of asymptomatic bacteriuria is reported as 2-14% during pregnancy. Fetal and maternal complications like acute pyelonephritis, hypertension, anemia, preterm labor, low-birth-weight infants and intrauterine growth retardation can be expected. The purpose of this study was to determine the incidence of asymptomatic bacteriuria during pregnancy and its relation to ...
Narayan S - - 2001
Since a universal definition for hypoglycemia is lacking, an operational threshold for initiating therapy has been defined. Hypoglycemia is encountered in a variety of neonatal conditions including prematurity, growth retardation and maternal diabetes. Since hypoglycemia may be asymptomatic, routine screening for this condition in certain high risk situations is recommended. ...
Larsen S O - - 2001
In order to elucidate the consistency between generally used age-dependent risk values for Down syndrome (DS) and estimates of the probability of miscarriage in Down pregnancies we have compared expected numbers with estimated numbers of births with DS in Denmark had no intervention at all been carried out. The expected ...
Ramsay R - - 2001
OBJECTIVE: Synchronised swimming is a sport that shares certain characteristics with other aesthetically pleasing sports such as gymnastics and dance. The purpose of this investigation was to ascertain whether the highest ranked synchronised swimmers in the United Kingdom experience menstrual abnormalities, a common medical problem seen in these related activities. ...
Beamer L C - - 2001
During fetal nuchal translucency screening, ultrasonography is used to assess for a fluid collection at the nape of the fetal neck. An abnormal fluid collection may be related to genetic disorders and/or physical anomalies. This screening is most accurate when performed between 10 and 14 weeks gestation. Analyzing maternal serum ...
Souter V L - - 2001
OBJECTIVES: Screening for fetal aneuploidy is now possible during the first trimester using sonographic and biochemical markers. The aim of this review was to summarize the efficacy and use of nuchal translucency in screening for fetal aneuploidy, especially fetal Down syndrome, and other anomalies. METHODS: We reviewed available literature regarding ...
Audibert F - - 2001
OBJECTIVES: To compare nuchal translucency and second-trimester maternal serum measurements as alternative methods of antenatal screening for Down syndrome in a low-risk population and to evaluate the consequence of combining the results in the estimation of risk. DESIGN: In a consecutive series of 4130 women aged less than 38 years ...
Spencer K - - 2001
In a group of 149 women who had undergone routine first trimester screening using fetal nuchal translucency thickness (NT) and maternal serum free beta-hCG and pregnancy associated plasma protein-A (PAPP-A) in two consecutive pregnancies the within person between pregnancy biological variability of these markers has been assessed. For fetal NT ...
Antsaklis A J - - 2001
OBJECTIVE: To examine the fetal loss rate in women younger than 35 years of age following a false positive serum biochemical screening. DESIGN: Retrospective analysis of case records between 1991 and 1998. SETTING: Fetal medicine unit of a large teaching hospital. POPULATION: Four hundred and fifty-six women with singleton pregnancies ...
van Montfrans J M - - 2001
Recent publications have reported a relation between a decreased ovarian reserve and Down's syndrome pregnancies. Using the data of a case-control study into risk factors for a Down's syndrome pregnancy, we estimated the usefulness of pre-conceptional basal follicle stimulating hormone (FSH) screening (detection rate, false positive rate, positive and negative ...
Evans M I - - 2001
With the continued explosion of genetic technology, the number of disorders amenable to screening is expanding geometrically. Historically, most genetic screening has been in the newborn period. Much more can be done for the fetus if genetic screening and diagnosis are accomplished early in the pregnancy rather than after birth. ...
Shulman C E - - 2001
Severe anaemia in pregnancy is an important preventable cause of maternal and perinatal morbidity and mortality. Different methods of screening for severe anaemia in pregnancy were evaluated in a 2-phased study conducted in Kilifi, Kenya. In phase 1 (in 1994/95), pallor testing was evaluated alone and in addition to raised ...
Tsai M S - - 2001
PURPOSE: It has been proposed that first-trimester Down's syndrome screening has a higher detection rate compared to second-trimester biochemical screening. This study investigated the accuracy of Down's syndrome screening during gestational weeks 10 to 13 using the combination of fetal nuchal translucency (NT) measurement with maternal serum concentrations of free ...
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