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Results 201 - 250 of 1263
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Masuzaki, Hideaki
The fetus could not be considered a patient until ultrasonography stripped the fetus of his/her aura of mystery; until the origin and development of the fetus from embryo to neonate could be explained scientifically. Ultrasonographies enabled accurate delineation of normal and abnormal fetal anatomy with considerable detail and later on ...
Zaki M - - 2007
OBJECTIVE: The objective of this study was to assess the maternal and prenatal ultrasound findings and outcome in pregnancies complicated by congenital myotonic dystrophy Type 1 (DM1). METHODS: A retrospective chart review of all patients with a diagnosis of DM1 and pregnancy presenting to the Oxford Radcliffe Hospital between 1990 ...
Bahtiyar Mert Ozan - - 2007
The current revolution in biomedical sciences has raised new hope for early diagnosis, prevention, and treatment of human diseases. Recent advancements in genomics, proteomics, and other basic sciences are currently transforming the medical science, and offer the promise of answering many of the questions related to human diseases, including their ...
Quadrelli Roberto - - 2007
OBJECTIVE: To learn about parental decisions to abort or continue a pregnancy after prenatal diagnosis of chromosomal abnormalities among the population in Uruguay. METHODS: Between 1982 and 2003, 14 656 amniocentesis and 2740 chorionic villus samplings were performed in a referral Genetic Unit. Chromosomal anomalies were found in 376 cases ...
Mazza Vincenzo - - 2007
OBJECTIVES: To assess the risk of fetal loss attributable to second trimester amniocentesis in singleton pregnancies through a cross-sectional study. METHODS: Records of 5043 consecutive second trimester amniocentesis, performed by a single operator between 1997 and 2003, were analyzed. Fetal loss post amniocentesis was calculated by grouping pregnant women in ...
Wataganara Tuangsit - - 2007
Magnetic resonance imaging (MRI), as an adjunct to ultrasonography, has become a promising tool in prenatal diagnosis and therapy. In this report, the authors described a case of giant solid mass arising in the fetal neck region diagnosed by prenatal sonographic examination at the gestational age of 33 weeks'. MRI ...
Illanes S - - 2007
OBJECTIVES: We aimed to establish the earliest gestational age at which fetal DNA in maternal plasma could be detected and whether this was reliable at 12-13 weeks' gestation. STUDY DESIGN: A prospective observational cohort study of 32 pregnancies either after IVF or before prenatal diagnosis by CVS. Maternal blood was ...
Kowalcek Ingrid - - 2007
Prior to any specific prenatal diagnostic procedure, the pregnant woman should be counselled about the indications for the procedure and how the diagnosis would inform care. In addition, the risks and limitations should be clearly spelt out. The availability of non-invasive prenatal diagnostic procedures such as sonography appears to have ...
Al-Yatama M K - - 2007
OBJECTIVE: The aim of this study was to determine whether or not a noninvasive procedure utilizing maternal peripheral blood as the source of DNA and polymerase chain reaction (PCR) could be used to detect fetal rhesus D (RhD) status as well as fetal gender during different gestational stages of pregnancy. ...
Stembalska Agnieszka - - 2007
The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during ...
Zimmermann Bernhard - - 2007
Cell-free fetal DNA can be detected in the blood plasma of pregnant women as early as 5 wk into pregnancy. At present noninvasive prenatal diagnosis has already begun to impact clinical practice. The established applications are for the determination of fetal sex and rhesus D blood group when the mother ...
Akhlaghpoor Shahram - - 2007
OBJECTIVE: According to our knowledge the safety of chorionic villus sampling (CVS) has not been studied in the presence of subchorionic hematoma (SCH). Our study aimed to evaluate the effects of CVS on the procedure-related fetal loss rate in patients with SCH. METHOD: Fifty-six patients with asymptomatic SCH (cases) and ...
Guler Ismail - - 2007
Gastroschisis is a rare anomaly and it is usually not associated with other syndromic or nonsyndromic anomalies. The first case of gastroschisis with aneuploidy (Turner syndrome) is presented. A fetal huge cystic hygroma was diagnosed by prenatal sonography at 12 weeks of pregnancy and chorionic villi sampling (CVS) was performed. ...
Thapar Anita A Department of Psychological Medicine, School of Medicine, Heath Park, Cardiff University, UK. - - 2007
There is much evidence to suggest that risk for common clinical disorders begins in foetal life. Exposure to environmental risk factors however is often not random. Many commonly used indices of prenatal adversity (e.g. maternal gestational stress, gestational diabetes, smoking in pregnancy) are influenced by maternal genes and genetically influenced ...
Phupong Vorapong - - 2007
INTRODUCTION: 47,XYY karyotype occurs in 1 out of 1,000 male births. Physical phenotype is normal, with tall stature by adolescence. Prenatal diagnosis of the 47,XYY syndrome is usually fortuitous. Some cases are being diagnosed when prenatal karyotyping is done for the detection of Down syndrome and other major aneuploidies. Some ...
Hjelmstedt Anna - - 2006
BACKGROUND: Investigators have pointed out that long-awaited pregnancies, such as those after in vitro fertilization (IVF), are emotionally vulnerable. In addition, higher pregnancy-related distress has been found among women pregnant after in vitro fertilization compared with women with "naturally" achieved pregnancy. The aim of this study was to compare prenatal ...
Ivry Tsipy - - 2006
In this article, I explore the reluctance of Japanese ob-gyns to discuss prenatal diagnosis (PND) tests with pregnant women. The analysis focuses on the culturally specific ways in which ob-gyns formulate their cautiousness and criticism toward PND while invoking a local moral economy. Analyzing ob-gyns' accounts, I show how the ...
Eddleman Keith A - - 2006
OBJECTIVE: The purpose of this study was to quantify the contemporary procedure-related loss rate after midtrimester amniocentesis using a database generated from patients who were recruited to the First And Second Trimester Evaluation of Risk for Aneuploidy trial. METHODS: A total of 35,003 unselected patients from the general population with ...
Sahoo Trilochan - - 2006
PURPOSE: This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies. METHODS: Women undergoing prenatal diagnosis were counseled and offered array-CGH (BCM V4.0) in addition to routine chromosome analysis. Array-CGH was performed with ...
Ramalho Carla - - 2006
OBJECTIVES: The aim of this study is the critical evaluation of cases of elective termination of pregnancy (TOP) in the Prenatal Diagnosis Center of S. João Hospital. MATERIAL AND METHODS: We performed a retrospective study of cases of elective TOP over a 43-month period in a tertiary referral hospital. The ...
Ramos Ester Silveira - - 2006
The noninvasive nature of the detection of fetal DNA in the maternal circulation represents the greatest advantage over the conventional methods of prenatal diagnosis. The applications of this methodology involve the detection of the fetal sex, and diagnosis, intra-uterine treatment, and evaluation of the prognosis of many diseases. Fetal cells ...
Forrester Mathias B - - 2006
BACKGROUND: Information on the utilization of prenatal ultrasound (US), amniocentesis (AC), and chorionic villus sampling (CVS) in pregnancies affected by birth defects in the United States is limited. The intent of this study was to report on the utilization of these procedures in Hawaii. METHODS: Cases were all infants and ...
Edwards Matthew - - 2006
Blood was obtained by cordocentesis from a fetus with non-immune hydrops demonstrated by ultrasound scanning at 27 weeks' gestation. Abnormalities of serum transferrin isoelectric focussing (IEF) were identified, characteristic of a congenital disorder of glycosylation type I (CDG-Ia). A diagnosis of CDG-Ia was confirmed by enzyme analysis of cultured amniocytes. ...
Gadow E - - 2006
OBJECTIVE: To analyze variables affecting couples' decision making about prenatal cytogenetic diagnosis in patients with no access to legal termination of pregnancy (TOP). METHODS: Patients undergoing invasive prenatal diagnosis were anonymously surveyed after counseling and before the procedure. The questionnaire enquired about sociodemographic features, medical history, knowledge of and attitudes ...
Kong Choy Wah - - 2006
BACKGROUND: The objective of this study was to determine the institutional pregnancy loss rate following second-trimester genetic amniocentesis and to ascertain whether factors exist which would identify pregnancies at increased risk of having a procedure-related fetal loss. SETTING: University Teaching Hospital METHODS: Details of the procedure and pregnancy outcome of ...
Zecca G - - 2006
The aim of the study was to verify in the context of prenatal diagnosis if the communicative style in consultations is modified in relation to the seriousness of the diagnosis. Videoed consultations after executing amniocentesis and ultra-sound scanning of II level were included in the study with the consent of ...
Chitty Lyn S - - 2006
To define the sonographic features of spondyloepiphyseal dysplasia congenita (SEDC) and the double heterozygote for SEDC and achondroplasia. A retrospective review of 6 pregnancies in one family where one parent has achondroplasia and the other SEDC. There were 4 double heterozygote pregnancies and 2 where the fetus had SEDC. Shortening ...
Sawyer Susan M - - 2006
OBJECTIVE: Newborn screening for cystic fibrosis, with appropriate counseling, enables carrier parents to be informed early about future reproductive choices. Previous studies have assessed attitudes toward reproductive decisions in a hypothetical pregnancy or have measured reproductive behaviors. We aimed to measure parent attitudes to reproductive technologies and to compare prospectively ...
Caughey Aaron B - - 2006
OBJECTIVE: To compare loss rates following amniocentesis and chorionic villus sampling (CVS) over time. METHODS: A retrospective cohort study of all amniocentesis and CVS procedures resulting in a normal karyotype from 1983-2003 at a single prenatal diagnostic referral center was conducted. Pregnancy loss rates for amniocentesis, CVS, and nonintervention groups ...
Dennis Lo Y M - - 2006
The discovery of cell-free fetal DNA in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. Most of the work in this field has focused on the detection of fetal genetic markers that are distinguishable from the background maternal DNA. The feasibility of detecting fetal epigenetic markers in ...
Saha, Biswajit
Conventionally, DNA based investigations for fetal diseases are done by chorionic villous sampling and amniocentesis. Both are invasive techniques. Recently, molecular diagnosis has also been made possible in early pregnancy from maternal blood which is noninvasive and advantageous. Most of the researches have tried to identify the Y chromosome marker(s) ...
Stanghellini I - - 2006
Cell-free fetal DNA in maternal plasma or serum is at present widely investigated as a source of fetal genetic material, both in studies of pregnancy-related disorders and in planning strategies for non-invasive prenatal diagnosis. Despite the number of trials already performed on the quantitation of fetal DNA, data about the ...
Santacroce R - - 2006
Fetal DNA identification in maternal circulation has provided a new approach for non-invasive prenatal diagnosis. However, fetal DNA can persist in maternal blood long after the delivery, severely hampering this possibility. We addressed the issue of fetal DNA persistence in maternal blood. Thus, we investigated cell-free fetal DNA as a ...
Howard Elisabeth D - - 2006
Women confronted with prenatal diagnosis of fetal abnormality face emotionally challenging choice options and considerable uncertainty regarding impact of choice on their families. Prenatal diagnosis of fetal abnormality presents childbearing women with difficult choices, such as continuation of pregnancy with no intervention, abortion, and, in selected cases, experimental fetal therapy. ...
Savva George M - - 2006
OBJECTIVES: Pregnancies affected by Down syndrome (DS) have a greater risk of spontaneous fetal loss than those that are unaffected. In this article, we investigate the relationship between maternal age and the risk of spontaneous fetal loss in DS pregnancies. METHODS: Fetal loss at different maternal ages were estimated by ...
Bouchet C - - 2006
INTRODUCTION: Myopathy, encephalopathy, lactic acidosis, and stroke-like (MELAS) syndrome, a maternally inherited disorder that is among the most common mitochondrial DNA (mtDNA) diseases, is usually associated with the m.3242A>G mutation of the mitochondrial tRNA(leu) gene. Very few data are available with respect to prenatal diagnosis of this serious disease. The ...
Wolstenholme J - - 2006
OBJECTIVES: To produce a fully searchable Microsoft Access database of mosaic and non-mosaic cytogenetic abnormalities, detected during diagnostic chorionic villi sampling (CVS) to aid laboratories in predicting pregnancy outcome, in particular differentiating between cases of likely genuine fetal cytogenetic abnormalities and those likely to represent confined placental mosaicism (CPM). METHODS: ...
Vanhaesebrouck Piet - - 2006
Congenital high airway obstruction syndrome (CHAOS) is a rare prenatal diagnosis consisting of a typical fetal triad of large hyperechogenic lungs, flattened or inverted diaphragms and ascites. Most cases are sporadic with unknown incidence. Before attempts of fetoscopic fetal salvage or ex utero intrapartum treatment (EXIT) are considered, additional malformations ...
Peters Kathryn F - - 2006
We report on the prenatal genetic counseling and testing experience in 343 pregnancies with twin or higher multiple gestations. By self-report, 8% (27/343) parents of these pregnancies reported meeting with a genetic counselor, and 23% (79/343) elected prenatal genetic testing. The most common testing procedures elected were maternal serum analyte ...
Liao Can - - 2006
OBJECTIVE: To assess the efficacy and safety of diagnostic cordocentesis. METHODS: Between January 1991 and May 2004, 2,010 cordocentesis were performed in the outpatient setting in 2,010 women with singleton pregnancies. A fixed needle guide and a 22-gauge percutaneous needle were used and no more than 2 attempts were allowed ...
Teele Rita L - - 2006
The discovery of fetal skeletal abnormality on prenatal US mandates an extended study of the fetus. This extended examination includes specific views and measurements of the fetal skeleton. Lethality can be predicted if severe pulmonary hypoplasia is present. Specific diagnosis of a fetal osteochondrodysplasia is difficult; a collaborative approach among ...
Chia Chun-Chieh - - 2006
OBJECTIVE: To report a rare congenital anomaly, a right diaphragmatic hernia, in a near-term baby. CASE REPORT: A 40-year-old female, gravida 3, para 2, had undergone regular prenatal care in our department since the early second trimester. She underwent amniocentesis at 16 weeks of gestation. The result showed normal 46,XY. ...
Kleijer Wim J - - 2006
BACKGROUND: In the course of 25 years, we have experienced a high rate of affected fetuses in the prenatal diagnosis of citrullinemia. METHODS AND RESULTS: Ninety-one pregnancies at 1 in 4 risk were tested; 36 were diagnosed as affected (39.5%; P = 0.0015). The high rate of positive diagnoses was ...
Chi C - - 2006
Ten carriers of haemophilia referred for prenatal diagnosis were offered first trimester non-invasive fetal gender determination by ultrasound and analysis of free fetal DNA (ffDNA) in maternal plasma in an attempt to reduce the need for an invasive diagnostic procedure in female pregnancies. Although repeat testing was required in three ...
Lee Kook - - 2006
Our aim was to demonstrate the potential of first-trimester embryofetoscopy for prenatal diagnosis in a continuing pregnancy. A patient at risk for giving birth to an infant with short rib-polydactyly syndrome, type II (Majewski), presented for prenatal diagnosis at 9 weeks of gestation. A 1 mm semirigid fiberoptic endoscope with ...
Bijarnia Sunita - - 2006
A fifteen-month-old boy, born to consanguineously married couple, presented with asymptomatic hepatomegaly. Investigations revealed mildly deranged liver functions, necroinflammatory changes and cirrhosis on liver biopsy, a markedly raised alpha feto protein and tyrosine levels in plasma and a generalized aminoaciduria. His diagnosis of hereditary tyrosinemia was established on findings of ...
Chiu Rossa W K - - 2006
Prenatal diagnosis has become a standard part of obstetrics care. Genetic diagnoses are established prenatally through the sampling of fetal genetic material by invasive methods such as amniocentesis or chorionic villus sampling, which are associated with a risk of fetal loss. Hence, the recent discovery of the presence of fetal ...
Chen Chih-Ping - - 2006
OBJECTIVES: We present the prenatal two-dimensional (2D-) and three-dimensional ultrasound (3D-US) diagnosis of limb reduction defects associated with homozygous alpha-thalassemia and a review of the literature. METHODS: At 17 weeks' gestation, amniocentesis was performed for cytogenetic and molecular studies, and 2D- and 3D-US examinations were made for evaluation of the ...
Robino Carlo - - 2006
Microscopic examination of a blood clot expelled by a physically and mentally disabled woman taken to the emergency room because of genital bleeding revealed the presence of chorionic villi encircled by decidua, hemorrhage, and necrosis. In order to identify the father of the product of conception, sections of formalin-fixed, paraffin-embedded ...
Stumm M - - 2006
Early, rapid and reliable diagnosis is of first priority in prenatal medicine. The combination of specific sonographic markers (e.g. nuchal translucency) and biochemical parameters in maternal serum (e.g. free beta-human chorionic gonadotropin, pregnancy-associated plasma protein A), has already dramatically improved the sensitivity of non-invasive first trimester risk screening in pregnancy. ...
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