Search Results
Results 251 - 300 of 906
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De Biasio P - - 2006
We report a case of fetal nasal glioma diagnosed at 21 weeks of gestation. The glioma appeared as a moderately hypoechoic mass arising from the junction between the medial aspect of the left orbit and the lateral aspect of the nose, and showing no internal vascularization on color and power ...
Milic Andrea - - 2006
Trisomy 22 is a rare chromosomal abnormality infrequently detected prenatally. External ear abnormalities, in particular microtia, are often associated with trisomy 22, but prenatal detection of microtia has not been reported in association with trisomy 22. We report a fetus with trisomy 22, with fetal MRI findings of microtia, craniofacial ...
Kharrat Richard - - 2006
OBJECTIVES: To determine the incidence and to examine the karyotype and the outcome of fetuses diagnosed with cystic hygroma (CH) at 11-14 weeks of gestation. METHODS: The presence of bilateral cystic anechoic cavities in the neck, nuchal translucency (NT), malformations and hydrops was prospectively recorded in 6894 ultrasound examinations in ...
Bruyère H - - 2006
OBJECTIVES: 1. To present the prenatal cytogenetic findings and postnatal outcome of 12 cases with an isodicentric chromosome composed of the short arm of the Y chromosome.2. To review the literature and provide recommendations for cytogenetic analysis and counseling. METHODS: Prenatal and postnatal cytogenetic data and clinical findings of isodicentric ...
Odibo Anthony O - - 2006
OBJECTIVE: Although second-trimester nasal bone (NB) hypoplasia has been associated with fetal aneuploidy, its role as a single marker is still uncertain. Our objective was to evaluate the efficiency of NB hypoplasia as an independent marker for fetal aneuploidy. METHODS: This was a prospective cohort study of women undergoing an ...
Cockwell Annette E - - 2006
Trisomy 6 is seen in early miscarriages in association with an intact, empty amniotic sac or as a pseudomosaic in amniotic fluid cultures. We report the finding of mosaic trisomy 6 in a 23-week-gestation pregnancy terminated because of intrauterine death. The post-mortem showed a well formed macerated male fetus with ...
Prefumo Federico - - 2006
OBJECTIVE: The purpose of this study was to assess the role of fetal nasal bones evaluation in first-trimester screening for trisomy 21 in selected and unselected pregnancies. STUDY DESIGN: Visualization of the nasal bones was attempted in women attending for routine nuchal translucency screening (unselected population, n = 7116, 12 ...
Molina Francisca S - - 2006
OBJECTIVE: To estimate the incidence of septations in fetuses with increased nuchal translucency (NT) thickness, and to investigate the relationship between the length and thickness of the translucency and whether the length or septations provide useful information concerning the fetal karyotype in addition to that provided by the NT thickness ...
Joó József Gábor - - 2006
BACKGROUND: Together with chromosome 19, chromosome 20 belongs to group F, the group of small metacentric chromosomes. Trisomy 20 mosaicism is one of the most frequent chromosomal mosaicisms, representing approximately 16% of prenatally diagnosed cases. In nonmosaic trisomy 20, the usual findings are severe and manifold. Only 3 cases in ...
Kozlowski P - - 2006
OBJECTIVE: To evaluate and compare the screening performance for fetal trisomy 21 in the first trimester of pregnancy either with or without inclusion of fetal nasal bone using two separate risk-algorithms of the Fetal Medicine Foundation London (FMF). METHODS: This study included 3174 patients self-referred to our tertiary level prenatal ...
Rochelson B - - 2006
OBJECTIVES: Geometric morphometric analysis has been used to quantify differences in biological shapes. Cranial irregularities are described in anomalous fetuses but are qualitative and ill-defined. Our goal was to apply geometric morphometric statistical analysis using three-dimensional (3D) multiplanar display to quantify shape differences in normal and abnormal fetal skulls. METHODS: ...
Papageorghiou Aris T - - 2006
OBJECTIVE: The purpose of this study was to examine the sonographic features of trisomy 13 at 11 to 13(+6) weeks of gestation. STUDY DESIGN: This was a retrospective study that examined the features of trisomy 13 at the ultrasound scan at 11 to 13(+6) weeks of gestation, which in our ...
Krabchi K - - 2006
We quantified all fetal nucleated cells (FNCs) per unit volume of maternal blood in different aneuploid pregnancies using molecular cytogenetic techniques. Seven cases of male trisomy 18, two triploidies (69,XXX), two 47,XXX, one 47,XXY, one 47,XYY, one male trisomy 13, and one case of 47,XY,r(22),+r(22) were analyzed. Whole blood samples ...
Falcon O - - 2006
OBJECTIVE: To examine whether in pregnancies with fetal trisomy 21 the level of maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11 + 0 to 13 + 6 weeks' gestation is independent of the presence or absence of tricuspid regurgitation and to estimate the performance ...
Stephenson Mary D - - 2006
BACKGROUND: Reproductive outcome studies of couples with a history of recurrent pregnancy loss (RPL) associated with a maternal or paternal carrier of a structural chromosome rearrangement are limited. Correlation of carrier status and cytogenetics of miscarriage specimens is critical to estimate subsequent pregnancy outcome. METHODS: Couples found to have a ...
Ozkinay F - - 2006
We report an unbalanced translocation involving chromosomes 8 and 21 in a fetus showing ultrasonographic abnormalities in the second trimester of pregnancy. A 41-year-old pregnant woman, gravida 1 para 0, was referred to the Genetics Clinic at the 16th week of gestation because of advanced maternal age and fetal pelvicaliectasis ...
De Biasio Pierangela - - 2006
OBJECTIVES: To assess the association between inherited metabolic disorders and nuchal translucency (NT) measurements. METHODS: The NT measurements obtained from 66 fetuses at high risk for metabolic diseases prior to chorionic villus sampling (CVS) were retrospectively analysed. RESULTS: NT was found to be within the normal range in all of ...
Kagan Karl Oliver - - 2006
OBJECTIVE: To examine the prevalence and distribution of all chromosomal defects in fetuses with increased nuchal translucency thickness. METHODS: Assessment of risk for trisomy 21 was carried out by a combination of maternal age and fetal nuchal translucency thickness at 11-13 + 6 weeks. A search of the database was ...
Gyselaers Wilfried J A - - 2006
OBJECTIVES: To evaluate in fetal aneuploidy screening the desirability of using Fetal Medicine Foundation (FMF) normal medians of nuchal translucency thickness (NT) measurements or performer-specific medians, and whether the NT measurements should be expressed as Delta-NT or Log NT-MoM values. SETTINGS: First trimester-combined screening programme in a low risk population ...
Marsk Anna - - 2006
BACKGROUND: This case-control study was performed to evaluate whether adding first-trimester maternal serum testing to nuchal translucency measurement would improve the antenatal detection of Down's syndrome and decrease the number of women offered fetal karyotyping. METHODS: In the Swedish Nuchal Translucency Trial (the NUPP trial), 39,572 pregnant women were randomized ...
Has Recep - - 2006
OBJECTIVE: To describe the detection rate of first-trimester chromosomal abnormality screening with nuchal translucency (NT) measurement and maternal age in our population. METHODS: We have screened the fetuses between 11 to 14 weeks' gestation according to the Fetal Medicine Foundation's (London) instructions and used the FMF's software to assess the ...
Perni Sriram C - - 2006
OBJECTIVE: The clinical application of first-trimester aneuploidy screening remains controversial in the United States. The aim of our study was to evaluate the performance of maternal age, fetal nuchal translucency measurements, pregnancy-associated plasma protein A, and free beta-human chorionic gonadotrophin used in aneuploidy screening in a single institution outside of ...
Soergel P - - 2006
OBJECTIVE: To examine the efficacy of first trimester screening for trisomy 21 using a combination of maternal age, fetal nuchal translucency (NT), maternal serum free beta-human chorionic gonadotropin (free beta-hCG) and pregnancy-associated plasma protein A (PAPP-A) in a regional setting [maternity unit of the Women's University Hospital, Hannover Medical School ...
Bdolah Yuval - - 2006
OBJECTIVE: Women who are carrying a trisomy 13 fetus are more prone to develop preeclampsia. Excess circulating soluble fms-like tyrosine kinase-1 has been implicated recently in the pathogenesis of preeclampsia. Since the fms-like tyrosine kinase-1/soluble fms-like tyrosine kinase-1 gene is located on chromosome 13q12, we hypothesized that the extra copy ...
Gundogan Munire - - 2006
OBJECTIVE: Diagnosis of lethal multiple pterygium syndrome in the first trimester of pregnancy. METHODS: A 38-year-old woman attended our ultrasound (US) clinic at 11.2 weeks gestation. She has had two previous stillbirths affected by lethal multiple pterygium syndrome. Transabdominal and transvaginal US were performed and identified a recurrence. Autopsy findings ...
Sieroszewski Piotr - - 2006
The aim of the study was to develop an early ultrasound diagnostic schema for the determination of increased risk for fetal chromosomal aneuploidies. The study was conducted on a population of 1318 pregnant women divided into 2 groups: 1255 women with the normal course of pregnancy and 63 women with ...
Krabchi Kada - - 2006
BACKGROUND: Prenatal diagnosis of trisomy 21 is based on fetal karyotyping generally obtained using invasive methods. During pregnancy, the circulating fetal cells in maternal blood constitute a potential source for development of a noninvasive prenatal diagnosis. The objective of this study was the identification and quantification of all fetal nucleated ...
Sahin F I - - 2006
Chromosomal mosaicism in prenatal diagnosis is an important problem to be solved immediately and the probable phenotypic reflections should be explained to the family. We report two numerical and two structural mosaicisms detected in amniocyte cultures. The first fetus had a 47,XY,+mar[10]/46,XY[10] karyotype. The marker chromosome was shown to be ...
Yang Young Ho - - 2006
OBJECTIVE: This study was undertaken to determine the clinical use of comparative genomic hybridization (CGH) for detection of fetal trisomy 21 from fetal ceIls (nucleated red blood cells; nRBCs) isolated from maternal peripheral venous blood. METHODS: Maternal peripheral venous blood samples were collected in sterile tubes containing heparin. After triple ...
Biron-Shental Tal - - 2006
The cause of aneuploidy in fetuses of young women is not fully understood. As such women are considered to be at risk of repeating the "error", it is customary to recommend chromosomal evaluation (karyotyping) in subsequent pregnancies. Individuals predisposed to meiotic nondisjunction exhibit aneuploidy in their mitotic cells (mosaicism). The ...
Gonc? Anna - - 2005
OBJECTIVE: To evaluate the effectiveness of the addition of first-trimester biochemistry to fetal nuchal translucency (NT) measurement in the Combined Test when screening for trisomy 21 in twin pregnancies. METHODS: Maternal serum free beta-hCG and PAPP-A were determined at 8 to 12 weeks and fetal NT was measured at 11 ...
Abuhamad Alfred - - 2005
Nuchal translucency (NT) describes an echo-free area, below the skin, in the posterior nuchal and back region of the fetus and is typically observed in the first and early second trimester of pregnancy. A wide NT has been correlated with chromosomal and congenital abnormalities in the fetus. An accurate NT ...
Falcon O - - 2005
OBJECTIVE: To determine the pattern of early growth disturbance in chromosomally abnormal fetuses by comparing the volume of the fetal head to that of the trunk. METHODS: The fetal trunk and head volume was measured using three-dimensional (3D) ultrasound in 145 chromosomally abnormal fetuses at a median gestational age of ...
Yamamoto Ritsu - - 2005
BACKGROUND: The mechanisms of the increase in the percentage of alpha-fetoproteins (AFPs) that strongly binds to Lens culinaris agglutinin (AFP-L3) in pregnancies with a trisomy 21 fetus have not been analyzed. To investigate the oligosaccharide variants of AFP produced by normal fetuses and fetuses with trisomy 21, the lectin reactivity ...
Sciarrone A - - 2005
Prevalence of congenital heart disease increases with nuchal translucency (NT) thickness. First-trimester fetal bradycardia may result from heart block associated with complex congenital heart disease. We report two cases detected in the first trimester of pregnancy, in which both fetuses showed an increased nuchal translucency and bradycardia. Fetal karyotype was ...
Peng Hsiu-Huei - - 2005
We present the case of a pregnant woman with low free beta-HCG in maternal serum Down syndrome screening that led to prenatal diagnosis of a fetus with 46,XY,der(4)t(4;11)(p14; q25). This chromosomal aneuploidy resulted from unbalanced segregation of a paternal balanced translocation, t(4;11)(p14;q25). Prenatal ultrasound revealed intrauterine growth restriction, cleft lip ...
Cicero Simona - - 2005
BACKGROUND: Screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-hCG and pregnancy associated plasma protein-A (PAPP-A) at 11-13(+6) weeks of gestation is associated with a detection rate of 90%, for a false-positive rate of 5%. Recent evidence suggests that ...
Bartsch Oliver - - 2005
Fluorescence in situ hybridization (FISH) analyses were performed on supernumerary marker chromosomes (SMCs) detected in 43,273 prenatal diagnoses over a period of 11 years, 1993-2003. A total of 42 pregnancies with SMC were identified, indicating a prevalence of one in 1032. A total of 15 SMCs were endowed with detectable ...
Ogilvie Caroline Mackie - - 2005
OBJECTIVE: To assess the implications of a change in prenatal diagnosis policy from full karyotype analysis to rapid trisomy testing for women referred primarily for increased risk of Down's Syndrome. DESIGN: Retrospective collection and review of data. SETTING: The four London Regional Genetics Centres. POPULATION: Pregnant women (32,674) in the ...
Spencer Kevin - - 2005
OBJECTIVE: To evaluate the influence of maternal insulin dependent diabetes mellitus (IDDM) on maternal serum free beta-hCG, PAPP-A and fetal nuchal translucency (NT), thickness at 11 to 13(+6) weeks of gestation in a large cohort of women screened prospectively for chromosomal anomalies. METHODS: Information on maternal IDDM status, maternal serum ...
Barkana Yaniv - - 2005
PURPOSE: To assess the intraoperator repeatability and interoperator reproducibility of central corneal thickness measurements by the Pentacam Scheimpflug imaging system (Oculus) and the optical low-coherence reflectometer (OLCR) pachymeter (Haag-Streit) and to compare them with those of ultrasound (US) pachymetry. SETTING: Assaf Harofe Medical Center Ophthalmology Outpatient Clinic, Zerifin, Israel. METHODS: ...
Picklesimer Amy H - - 2005
OBJECTIVE: The purpose of this study was to identify the influence of gestational age on the detection of sonographic markers of aneuploidy. STUDY DESIGN: Using a retrospective chart review, cases of trisomy 13, 18, and 21 with fetal ultrasounds between 14 1/7 and 36 4/7 weeks' gestation were identified. Sonographic ...
McAuliffe Fionnuala M - - 2005
OBJECTIVE: The purpose of this study was to determine the effectiveness of a fetal anatomy survey in conjunction with first-trimester nuchal translucency (NT) screening ultrasound in an unselected pregnant population performed by sonographers. STUDY DESIGN: This was a prospective observational study of women presenting for NT screening for chromosomal defects. ...
Krantz David A - - 2005
OBJECTIVE(S): To estimate weight and ethnic group correction factors for first-trimester screening markers. METHODS: Ethnic-specific median MoM free beta hCG and pregnancy associated plasma protein A (PAPP-A) and delta nuchal translucency values were calculated for cohorts of maternal weight (20 lb each) using data from 51,206 patients undergoing first-trimester screening. ...
Nicolaides Kypros H - - 2005
There is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy. Randomized studies have established that the risk of miscarriage from chorionic villus sampling in the first trimester is the same as for amniocentesis in the second trimester. Prospective studies have ...
Huang Tianhua - - 2005
OBJECTIVE: The purpose of this study was to investigate associations between risk of spontaneous fetal loss and risk estimates for Down syndrome, trisomy 18, and neural tube defects assigned by second-trimester maternal serum screening. STUDY DESIGN: The study involved 264,653 women with available pregnancy outcomes who were screened between 15 ...
Won Rosa H - - 2005
OBJECTIVE: Women with chromosomally abnormal fetuses often choose to continue their pregnancy. However, though they may search for specific details whether their fetus will survive, not much information is available. We sought to determine if there was a pattern for timing of demise and to determine if demise was more ...
Schäffer Leonhard - - 2005
OBJECTIVE: To analyze the effect of nuchal cords on perinatal features at delivery of term and postterm pregnancies. METHODS: A total of 11,748 women with planned vaginal deliveries, including 9,574 term and 2,174 postterm deliveries, were analyzed for intrapartum events, clinical peripartum management, mode of delivery, and neonatal outcome. The ...
Wegrzyn P - - 2005
OBJECTIVE: To determine the potential value of measuring the placental volume at 11 to 13 + 6 weeks of gestation in screening for chromosomal defects. METHODS: The placental volume was measured using three-dimensional ultrasound in 500 consecutive singleton pregnancies immediately before chorionic villus sampling for fetal karyotyping at 11 to ...
Assimakopoulos E - - 2005
OBJECTIVES: To evaluate the clinical relevance of nuchal cord in normal, vertex, singleton pregnancies at term, and its effect on mode of delivery and perinatal outcome. STUDY DESIGN: Prospective study with 352 normal, singleton pregnancies, with fetuses in the vertex presentation, examined with real-time ultrasound at 37-39 weeks. Health care ...
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