Search Results
Results 251 - 300 of 1268
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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. ...
Socolov R - - 2006
The authors present the case of a foetus with Jeune syndrome (asphyxiating thoracic dystrophy) in a woman with a previous deceased child with the same disease, and also with a normal sibling. The diagnosis was mentioned at 26 week of pregnancy, based on ultrasonographic findings: short proximal bones (under 3 ...
Monni Giovanni - - 2006
OBJECTIVES: To evaluate the changes in the approaches used for invasive prenatal diagnosis for beta-thalassemia and karyotyping at a single center from 1977 to 2004. METHODS: For beta-thalassemia, in 1977 placentacentesis, in 1982 amniocentesis, in 1983 fetoscopy and cordocentesis, in 1983 trancervical chorionic villi sampling (TC-CVS), in 1984 cardiocentesis, in ...
Lazaros Leandros - - 2006
OBJECTIVE: To perform a reliable non-invasive prenatal detection of the Hb Lepore paternal mutation and determine the fetal gender in the first trimester of pregnancy. METHODS: DNA was extracted from a serum sample obtained from a pregnant woman at the mid first trimester of gestation. Hb Lepore-specific, mutant and normal, ...
Li Dongzhi - - 2006
OBJECTIVE: To control the birth of thalassemic children in Southern China. STUDY DESIGN: DNA-based diagnosis was offered on fetal tissues in pregnancies when beta-globin gene mutations were identifiable in both parents using polymerase chain reaction (PCR)-reverse dot blot (RDB) assay. An automated high-performance liquid chromatography (HPLC) system was used to ...
Wapner Ronald J - - 2005
As aneuploid screening evolves to the first trimester a complimentary diagnostic procedure becomes increasingly important. Chorionic villus (CVS) sampling has emerged as the only safe invasive prenatal diagnostic procedure prior to the 14(th) week of gestation. Over 2 decades of experience have demonstrated the accuracy, efficacy and safety of CVS. ...
Hyett Jon A - - 2005
OBJECTIVE: This study reviews our clinical experience of non-invasive techniques for early sex determination. It assesses the effectiveness of these techniques at reducing invasive prenatal testing for X-linked genetic disease or for ambiguous development of the external genitalia. METHODS: A prospective cohort study of 30 pregnancies was referred to a ...
L'herminé-Coulomb A - - 2005
We report on a family of three consecutive fetuses affected by type IV glycogen storage disease (GSD IV). In all cases, cervical cystic hygroma was observed on the 12-week-ultrasound examination. During the second trimester, fetal hydrops developed in the first pregnancy whereas fetal akinesia appeared in the second pregnancy. The ...
Clausen Frederik Banch - - 2005
OBJECTIVES: The objective of this study was to establish a reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women. This test is needed for future prenatal Rh prophylaxis. METHODS: A novel real-time PCR-based assay targeting RHD exon 7 combined with a published assay ...
Lau Kin Tze - - 2005
BACKGROUND: The true risk of chronic villus sampling (CVS) is poorly defined. The objective of this study was to review the clinical outcome of transabdominal CVS performed in a university teaching unit, with an emphasis on the complication rate. METHODS: A comprehensive audit database was maintained for 1,351 pregnant women, ...
Bianchi Diana W - - 2005
Rhesus (Rh) D blood group incompatibility between the pregnant woman and her fetus is a significant problem due to the possibility of maternal alloimmunization and consequent hemolytic disease of the newborn. The RhD-negative blood group is found in 15% of whites, 3-5% of black Africans, and is rare in Asians. ...
Cavicchioni Ottavia - - 2005
We present a case of prenatal diagnosis of a de novo (7;19)(q11.2;q13.3) translocation associated with ultrasound features, including enlarged cisterna magna, normal vermis, thick corpus callosum, micrognathia, small and low-set ears and right hyperechogenic kidney. Karyotyping was performed at 24 weeks of gestation. Termination of pregnancy was accepted at the ...
Cleary-Goldman Jane - - 2005
The incidence of twins, triplets, and high-order multiples has increased dramatically in the last two decades secondary to greater reliance on fertility treatments and to delayed childbearing. Offspring of a multiple gestation are at increased risk for both chromosomal and structural abnormalities. Prenatal diagnosis in these patients is challenging. Options ...
Vainzof Mariz - - 2005
The congenital muscular dystrophies (CMD) are clinically and genetically heterogeneous. The merosin (laminin alpha2 chain) deficient form (MDC1A), is characterized clinically by neonatal hypotonia, delayed motor milestones and associated contractures. It is caused by deficiency in the basal lamina of muscle fibers of the alpha2 chain of laminins 2 and ...
Marcus-Soekarman D - - 2005
The detection of echodense fetal bowel on ultrasound examination in the second trimester of pregnancy justifies invasive procedures such as amniocentesis to detect an underlying cause. We present a case in which initial tests identified only one mutation in the cystic fibrosis transmembrane regulator (CFTR)-gene of the fetus, the family ...
Richmond Sam - - 2005
OBJECTIVE: A population-based study of the trends in accuracy over time of prenatal diagnosis of congenital malformations. DESIGN: A prospective study of all congenital malformations. SETTING: The counties of Cleveland, Durham, North Cumbria, Northumberland and Tyne and Wear. POPULATION: All 573,471 babies born to residents at 24 weeks of gestation ...
Berkenstadt Michal - - 2005
OBJECTIVE: To determine whether colchicine prescribed for familial Mediterranean fever is teratogenic. STUDY DESIGN: Reproductive histories were analyzed from 326 couples referred for prenatal diagnosis because 1 partner was affected. Numbers of chromosomal abnormalities and birth defects were compared with numbers expected from published rates. RESULTS: There were 901 pregnancies, ...
Gallot Denis - - 2006
OBJECTIVE: To evaluate the detection rate of prenatal diagnosis and its impact on outcome in congenital diaphragmatic hernia (CDH). STUDY DESIGN: We retrospectively studied 51 cases of CDH registered in the Auvergne area from January 1992 to December 2003 (Birth Defect Registry of Auvergne, Institut Européen des Génomutations). Our main ...
Beversdorf D Q - - 2005
Recent evidence supports a role for genetics in autism, but other findings are difficult to reconcile with a purely genetic cause. Pathological changes in the cerebellum in autism are thought to correspond to an event before 30-32 weeks gestation. Our purpose was to determine whether there is an increased incidence ...
Hobson Emma E - - 2005
Isolated sulphite oxidase deficiency (ISOD) is a rare autosomal recessive inborn error of metabolism, which may present at birth with intractable seizures (often of prenatal onset) and severe neurological abnormalities. In infants who survive, lens dislocation may occur from 8 weeks of age. The neuropathological findings in ISOD are similar ...
Trasi Sucheta - - 2005
We report the successful prenatal diagnosis of von Willebrand disease (VWD) in a family with type 3 severe VWD by the indirect method of gene tracking using polymorphic markers of intron 40 of the von Willebrand factor (VWF) gene. The couple had a daughter diagnosed to have type 3 VWD. ...
Bonnefoy O - - 2005
We report the 1st confirmed case of an extradural hematoma diagnosed in utero by ultrasonography and magnetic resonance imaging at 31 weeks' gestation. No signs of intracranial hemorrhage were found. During pregnancy, the expecting mother suffered from sustained cough, and a blood sample test revealed acute pertussis. The presence of ...
von Otte Sören - - 2005
The technology of in-vitro maturation (IVM) aims at maturing immature oocytes from the germinal vesicle (GV) stage to the metaphase 2 stage of the second meiotic division in vitro. Gametes are obtained by immature oocyte retrieval from small antral follicles (5-12 mm) present in polycystic ovarian syndrome patients or at ...
Galbiati Silvia - - 2005
The presence of fetal DNA in maternal plasma may represent a source of genetic material which can be obtained noninvasively. We wanted to assess whether fetal DNA is detectable in all pregnant women, to define the range and distribution of fetal DNA concentration at different gestational ages, to identify the ...
Tongsong Theera - - 2005
We present the case of a truncus arteriosus associated with holoprosencephaly detected in a fetus in the first trimester and the sonographic findings that established this diagnosis. A physical exam was performed on a 35-year-old pregnant woman, gravida 2, para 1. At 20 weeks, sonography showed large-for-date uterine size. Fetal ...
Richards F H - - 2005
A retrospective study examined both pre- and post-result reproductive decision making for 281 people at risk for Huntington's disease aged 18-45 years who had undergone predictive testing in one centre in Australia between 1990 and 2002. Forty-eight per cent of subjects had one or more pre-result pregnancies, and of these, ...
Sandelowski Margarete - - 2005
OBJECTIVE: To integrate the findings of qualitative studies of expectant parents receiving positive prenatal diagnosis. DATA SOURCES: Seventeen published and unpublished reports appearing between 1984 and 2001 and retrieved between December of 2002 and March of 2003. The electronic databases searched include Academic Search Elite, AIDS Information Online (AIDSLINE), Anthropological ...
Keret David - - 2005
Musculoskeletal anomalies are not uncommon in prenatal life. They can be either sporadic or part of chromosomal syndromes causing prenatal morbidity and mortality. The prenatal diagnosis of musculoskeletal anomalies is based on information assembled from various imaging modalities and from biochemical and genetic workups. The prenatal diagnosis can serve as ...
von Dadelszen Peter P Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynaecology, University of Toronto, Toronto, Ontario, - - 2005
This trial compared two instruments for transcervical chorionic villus sampling (CVS). Randomised controlled trial. Regional university prenatal diagnosis and treatment centre. Two hundred women were randomised at 10(+0)-12(+6) weeks of gestation to transcervical CVS using cannula aspiration (CA) or biopsy forceps (BF). Women undergoing indicated CVS signed informed consent. Randomisation ...
Morel Chantal F - - 2005
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is characterized by varying degrees of developmental delay, motor and gait abnormalities, seizures, and thrombosis. Biochemical abnormalities include homocystinuria and hyperhomocysteinemia. Clinical severity correlates with MTHFR activity in cultured fibroblasts; activity can also be assayed in cultured amniocytes and chorionic villus cells (CVC). Forty-four private ...
Brambati Bruno - - 2005
PURPOSE OF REVIEW: The advantages and disadvantages of common invasive methods for prenatal diagnosis are presented in light of new investigations. RECENT FINDINGS: Several aspects of first-trimester chorionic villus sampling and mid-trimester amniocentesis remain controversial, especially fetal loss rate, feto-maternal complications, and the extension of both sampling methods to less ...
Kuliev Anver - - 2005
Preimplantation genetic diagnosis (PGD) is currently one of the practical options available for couples at-risk to avoid the birth of children with genetic and chromosomal disorders. Despite its novelty, PGD has already become an alternative to traditional prenatal diagnosis, allowing establishing only unaffected pregnancies avoiding the risk for pregnancy termination. ...
Kuliev Anver - - 2005
PURPOSE OF REVIEW: Preimplantation genetic diagnosis (PGD) allows genetically disadvantaged couples to reproduce, while avoiding the birth of children with targeted genetic disorders. By ensuring unaffected pregnancies, PGD circumvents the possible need and therefore risks of pregnancy termination. This review will describe the current progress of PGD for Mendelian and ...
Howarth Edmund S - - 2005
OBJECTIVE: To identify the population prevalence, pregnancy outcome, and the pattern of associated anomalies with a prenatal diagnosis of cystic hygroma. DESIGN: We analysed the pregnancy outcomes from 99 cases of prenatally diagnosed cystic hygroma reported to the Trent Congenital Anomalies Register from 1 January 1997 to 31 December 1999, ...
González-González Cristina - - 2005
Non-invasive prenatal diagnosis tests based on the analysis of fetal DNA in maternal plasma have potential to be a safer alternative to invasive methods. So far, different studies have shown mainly fetal sex, fetal RhD, and quantitative variations of fetal DNA during gestation with fetal chromosomal anomalies or gestations at ...
Appelman Zvi - - 2005
Chromosomal anomalies and mendelian diseases are more frequent in multiple gestations than in singletons. Prenatal diagnosis is recommended in multiple pregnancies whenever indicated. Invasive testing using amniocentesis or chorionic villus sampling can be performed safely. Chorionic villus sampling has a significant advantage over amniocentesis because it offers rapid karyotyping and ...
Akhlaghpoor Shahram - - 2005
OBJECTIVE: Fetal heart rate (FHR) variation during chorionic villus sampling (CVS) is a controversial topic. Limited studies have been published on this subject. Our study intended to evaluate the effects of CVS on the FHR. METHOD: One hundred and sixty-five patients undergoing first-trimester elective CVS for prenatal diagnosis of beta-thalassemia ...
Gautier Evelyne - - 2005
OBJECTIVE: The purpose of this study was to determine the accuracy of the none-invasive prenatal determination of polymerase chain reaction (PCR)-based fetal RhD genotyping. STUDY DESIGN: A prospective case series was undertaken on all RhD-negative pregnant women presenting for genetic counseling in our prenatal diagnosis center from January 2001 until ...
Lo Y M Dennis - - 2005
The discovery of cell-free fetal DNA in maternal plasma in 1997 has opened up new possibilities for noninvasive prenatal diagnosis. Circulating fetal DNA molecules have been detected in maternal plasma from the first trimester onwards and can be robustly detected using a variety of molecular methods. This approach has been ...
Olsen Rikke K J - - 2005
OBJECTIVES: Multiple acyl-CoA dehydrogenation deficiency (MADD) is a clinically heterogeneous disorder of mitochondrial fatty acid, amino acid, and choline oxidation due to mutations in the genes encoding electron transfer flavoprotein (ETF) or ETF ubiquinone oxidoreductase (ETFQO). So far, prenatal diagnosis of MADD has relied mostly on second-trimester biochemical analyses of ...
Garne E - - 2005
OBJECTIVES: To assess at a population-based level the frequency with which severe structural congenital malformations are detected prenatally in Europe and the gestational age at detection, and to describe regional variation in these indicators. METHODS: In the period 1995-1999, data were obtained from 17 European population-based registries of congenital malformations ...
Funghini S - - 2005
We report the two first prenatal diagnoses in an Italian family with a proband affected by neonatal carbamyl-phosphate synthetase I deficiency in which molecular analysis identified V457G and Q810R amino acid substitutions. We performed a prenatal diagnosis on genomic DNA isolated from chorionic villus and amniotic fluid samples collected at ...
Allan Lindsey D - - 2004
Counselling the parents following a diagnosis of fetal congenital heart disease (CHD) is as important a task for the fetal cardiologist, as the skill involved in achieving an accurate diagnosis. The counsellor will base prognosis not only on the diagnosis itself but also on the security of diagnosis, the stage ...
Birch Lyndsey - - 2005
BACKGROUND: Detection of fetal DNA in maternal plasma is achievable at 5 weeks of gestation, but few large-scale studies have reported circulating fetal and maternal DNA across all trimesters. METHODS: Blood samples were collected from 201 women between 5 and 41 weeks of pregnancy. Quantitative PCR was used to assess ...
Stetten Gail - - 2004
Chromosomal mosaicism was found in 38 of 4,000 chorionic villus samples examined from 1998 to 2003. A small fraction of these (5/38) were confirmed as true mosaics by analysis of amniotic fluid. Twenty-nine cases that fit the definition of confined placental mosaicism were followed with clinical and cytogenetic analysis throughout ...
Shub A - - 2004
OBJECTIVE: To determine the diagnostic accuracy of prenatal fetal echocardiography. METHODS: The study was a retrospective chart review of 190 consecutive patients over a 3-year period from November 1998 to February 2002 of all women referred to the Maternal Fetal Medicine unit, Mater Mothers Hospital, for fetal echocardiography. The prenatal ...
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