bluuebunny/crossref_metadata_2025_split huggingface dataset:
Isolated echogenic foci in the fetal heart: do they increase the risk of trisomy 21 in a population previously screened by nuchal translucency?
Authors: Prefumo F. , Presti F. , Mavrides E. , Sanusi A. F. , Bland J. M. , Campbell S. , Carvalho J. S. 
Published: March 2003

AbstractObjectivesTo confirm the hypothesis that isolated cardiac echogenic foci at the second‐trimester anomaly scan do not influence our current calculation of risk of trisomy 21 in individual pregnancies, which is based on maternal age and nuchal translucency thickness at 11–14 weeks.DesignObservational study in a fetal medicine unit.MethodsIn a general pregnant population undergoing first‐trimester nuchal translucency screening, data from 239 singleton pregnancies with isolated cardiac echogenic foci at the second‐trimester anomaly scan were compared with those of a control group of 7449 pregnancies with normal anomaly scans. Prevalence of trisomy 21 was determined in both groups. Following the anomaly scan, the individual risks of trisomy 21 were calculated by adjusting the previous risk based on maternal age and first‐trimester nuchal translucency. We assumed that echogenic foci did not alter each individual risk calculation. The expected number of cases of Down syndrome in both groups was then calculated from the sum of probabilities of each individual affected fetus. The observed number of cases was compared with the expected number in both study and control populations.ResultsThere was no statistically significant difference between the prevalence of trisomy 21 in the study group (no cases) and in the control population (three cases). From individual risk calculations, observing no cases of trisomy 21 in the study group was the most likely event if echogenic foci did not increase the risk of this chromosomal abnormality (
P = 0.62).ConclusionThe finding of isolated echogenic foci at the time of the 20 week‐scan does not significantly change the risks of trisomy 21 if background risk and previous nuchal translucency measurements are taken into account in the individual risk calculation. We suggest that no further adjustments to risk should be used. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology
Platelet changes and subsequent development of pre‐eclampsia and fetal growth restriction in women with abnormal uterine artery Doppler screening
Authors: Missfelder‐Lobos H. , Teran E. , Lees C. , Albaiges G. , Nicolaides K. H. 
Published: March 2003

AbstractObjectivesTo investigate whether, in women with abnormal uterine artery Doppler, platelet volume and function will identify a subgroup of women at increased risk of pre‐eclampsia and intrauterine growth restriction and whether in‐vitro platelet aggregation precedes the onset of clinical disease.DesignPlatelet number, volume and aggregation induced by collagen or adenosine 5'‐diphosphate were evaluated in 16 non‐pregnant controls, 29 pregnant women with normal uterine artery Doppler and 31 pregnant women with abnormal Doppler, hence at risk of pre‐eclampsia and intrauterine growth restriction at 23 weeks. Outcome of pregnancy was recorded in each case.ResultsTwelve women in the group with abnormal uterine artery Doppler subsequently developed pre‐eclampsia and/or intrauterine growth restriction. All women with normal uterine artery Doppler had a normal pregnancy outcome. No differences in platelet count or in vitro platelet aggregation induced by collagen were observed between the groups. Mean platelet volume was greater in those with abnormal Doppler who had intrauterine growth restriction or normal pregnancy outcome compared with normal Doppler (10.3 and 10.3 vs. 9.4 fL, P = 0.004 and P = 0.01, respectively). Aggregation induced by adenosine diphosphate was higher in women with abnormal Doppler who developed pre‐eclampsia or intrauterine growth restriction compared with those with normal outcomes (66.5 and 66.5 vs. 21%, P = 0.02, P = 0.03, respectively).ConclusionsWomen with abnormal uterine artery Doppler at 23 weeks show alterations in mean platelet volume and platelet function that relate to subsequent adverse outcome. Copyright © 2002 ISUOG
Reference values for fetal limb biometry at 10–14 weeks of gestation
Authors: De Biasio P. , Prefumo F. , Lantieri P. B. , Venturini P. L. 
Published: March 2003

AbstractObjectivesTo calculate reference ranges for fetal limb measurements obtained by transabdominal ultrasound at 10–14 weeks of gestation.MethodsSix hundred and six normal fetuses were examined transabdominally in a cross‐sectional study by a single observer. The crown–rump length of the fetuses ranged from 31 to 78 mm. Measurement of the length of the humerus, ulna, femur, tibia and foot was attempted from the longest section of each structure. To assess intraobserver repeatability, three sets of repeated measurements were obtained in 26 fetuses.ResultsAn appropriate ultrasound measurement was obtained in a percentage of cases ranging from 93.2% to 97.9%. A significant correlation was found between crown–rump length measurements and humerus length (r = 0.74, P < 0.001), ulna length (r = 0.70, P < 0.001), femur length (r = 0.77, P < 0.001), tibia length (r = 0.69, P < 0.001) and foot length (r = 0.58, P < 0.001). Crown–rump length‐specific reference ranges for each measurement were calculated with the method of scaled absolute residuals. The study of intraobserver variability showed coefficients of variation ranging from 7.9 to 10.0% and intraclass correlation coefficients ranging from 0.89 to 0.94.ConclusionsFetal limb size is strongly correlated with crown–rump length. Despite a significant biological variability of the measurements, the availability of reference ranges could be of help in the early diagnosis of fetal skeletal dysplasias. Copyright © 2002 ISUOG
How successful is fetal echocardiographic examination in the first trimester of pregnancy?
Authors: Haak M. C. , Twisk J. W. R. , Van Vugt J. M. G. 
Published: March 2003

AbstractObjectiveTransvaginal echocardiography is still rarely incorporated into the first‐trimester ultrasound examination, despite the fact that heart defects are the most frequently encountered congenital malformation. This study was undertaken to explore the possibilities of fetal echocardiography in the late first trimester.MethodsIn 85 women with uncomplicated singleton pregnancies, three transvaginal ultrasound examinations between 11+0 and 13+6 weeks' gestation were performed. The examinations were carried out at weekly intervals and visualization of several echocardiographic planes was attempted (four‐chamber view, aortic root, long axis of the aorta, pulmonary trunk with three‐vessel view, cross‐over of the great arteries). The diameter of the aorta and pulmonary trunk were measured to establish reference ranges.ResultsThe success rate of visualization of the different parameters increased with gestational age. The ability to perform a full cardiac examination increased from 20% in week 11 to 92% in week 13. Longitudinally derived growth curves of the aorta and the pulmonary trunk were constructed and both showed a linear increase with gestational age.ConclusionsThe best time in the first trimester to perform transvaginal echocardiography is at 13+0 to 13+6 weeks' gestation. In this period, a full cardiac examination is possible in 92% of cases. The increase of success rate compared to earlier studies is likely to result from the use of better resolution, high‐frequency transvaginal probes. First‐trimester echocardiography provides an opportunity to examine the fetal heart early in gestation, especially in patients at risk for cardiac malformations because of a positive family history or in fetuses with increased nuchal translucency. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
Cardiac malformations in first‐trimester fetuses with increased nuchal translucency: ultrasound diagnosis and postmortem morphology
Authors: Haak M. C. , Bartelings M. M. , Gittenberger‐De Groot A. C. , Van Vugt J. M. G. 
Published: March 2003

AbstractObjectiveThe aim of this study was to explore the diagnostic accuracy of first‐trimester transvaginal echocardiography in fetuses with increased nuchal translucency (NT) thickness, by comparing the ultrasound diagnosis with the findings on postmortem examination or mid‐gestational ultrasound and neonatal outcome.MethodsTransvaginal echocardiography was performed in 45 fetuses with a NT > 95th centile. Karyotyping was performed in 43. In 20 of the 23 pregnancies in which termination of pregnancy was carried out, postmortem examination was performed to determine the presence and type of heart defect. Mid‐gestational echocardiography was performed in ongoing pregnancies and neonatal follow‐up information was obtained. Findings on first‐trimester transvaginal echocardiography were compared to those of second‐trimester echocardiography or the results of postmortem examination. The mean NT in the fetuses with and without heart defects was calculated.ResultsOf the 45 fetuses, heart malformations were suspected on first‐trimester ultrasound in 10 (22%), of which eight (80%) were found to have a chromosomal abnormality. Postmortem examination showed minor additional findings in some cases and major discrepancies occurred in none. Septal defects were the most common defects in trisomic fetuses. In three fetuses with a 45X karyotype, hypoplastic left heart syndrome was diagnosed. Heart defects were diagnosed in three euploid fetuses in which fetal demise occurred. The sensitivity and specificity for the detection of heart defects of transvaginal echocardiography were 88% and 97%, respectively. The mean NT in fetuses with a normal heart (4.3 mm) was significantly smaller than that of fetuses with heart defects (7.4 mm).ConclusionTransvaginal echocardiography can be performed reliably in first‐trimester fetuses with an increased NT. In this study, the proportion of chromosomally abnormal fetuses with a heart defect was not different from that found in newborns, except for cases of Turner syndrome. Fetal demise occurred in all three euploid fetuses with a heart malformation. The fetuses with a heart defect had a larger NT than did those without. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
Effect of maternal position on cervical length measurement in twin pregnancies
Authors: Bernáth T. , Brizot M. L. , Liao A. W. , Cury L. , Banduki Neto J. D. , Zugaib M. 
Published: March 2003

AbstractObjectiveTo compare cervical length measurements in twin pregnancies obtained from patients in the recumbent and standing positions.MethodsFifty women with uncomplicated twin pregnancies underwent monthly transvaginal ultrasound examinations for cervical length measurement in the recumbent and standing positions. The correlation between cervical length measurements obtained in the recumbent and standing positions, and between these measurements and gestational age, were examined. The significance of the differences between measurements obtained in the recumbent and standing positions was also analyzed.ResultsBased on data obtained at the first ultrasound examination, there was a significant correlation between cervical length measurements in the recumbent and standing positions (r = 0.77; t = 8.25; P < 0.0001) and both measurements showed a significant inverse correlation with gestational age (recumbent position: r = −0.60, P < 0.0001; standing position: r = −0.46; P = 0.0008). The mean of the differences (standing − recumbent) was −1.8 mm (95% confidence interval = −3.7–0.04; t = −1.96; P = 0.06) and the mean of percentage differences ((standing − recumbent)/recumbent × 100) was −2.9% (95% confidence interval = −8.6–2.7; t = −1.04; P = 0.3). When the data obtained at all examinations were examined by multiple regression analysis, cervical length measurement in the recumbent position was the only parameter that correlated significantly with the percentage difference between cervical length measurements (P < 0.0001).ConclusionsCervical length in twin pregnancies decreases with gestation and there is a good correlation between measurements obtained from women in the recumbent and standing positions. No significant changes in cervical length were observed comparing measurements obtained in the two maternal positions. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
Fetal gender: antenatal discrepancy between phenotype and genotype
Authors: Bretelle F. , Salomon L. , Senat M.‐V. , Vialard F. , Albert M. , Roume J. , Ville Y. 
Published: March 2003

AbstractSexual discrepancy is reported in both 46,XY females and 46,XX males, and most diagnoses of sex reversal are made in the postpubertal period. We report three cases of sexual discrepancy, which were revealed by karyotyping following genetic amniocentesis, chorionic villus sampling and fetal blood sampling. The etiologies of 46,XX male, 45,X male and 46,XY female subjects are reviewed. When sexual discrepancy between fetal karyotype and ultrasonographic fetal phenotype is encountered, sample error and placental mosaicism should be excluded. A detailed fetal ultrasound examination should be performed to check for syndromic gender discrepancy. When repeat karyotyping is indicated, localization of the Sox related Y chromosome gene should be carried out. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
Repeatability of echocardiographic measurements in the human fetus
Authors: Simpson J. M , Cook A 
Published: March 2003

AbstractObjectivesTo determine the repeatability of cross‐sectional, M‐mode and Doppler echocardiographic measurements in the human fetus.MethodsThis was a prospective echocardiographic study of 10 normal fetuses, involving measurement of 32 different echocardiographic variables in each. The intra‐ and interobserver error of measurements were quantified. The median (range) gestational age was 23 (17–34) weeks.ResultsCross‐sectional echocardiography: for left ventricular end‐diastolic volume the intraobserver coefficient of variation was 13% and the interobserver limits of agreement were a ratio of 0.46–2.19. For left ventricular ejection fraction the repeatability was ± 8.8% and the interobserver limits of agreement were ± 20%. M‐mode echocardiography: the coefficient of variation for left ventricular end‐diastolic dimension was 10%, and the interobserver limits of agreement were a ratio of 0.74–1.70. The intraobserver repeatability of left ventricular fractional shortening was ± 8.8%, and interobserver limits of agreement ± 15%. Limits of agreement for M‐mode‐derived left ventricular end‐diastolic volume were wide, intraobserver coefficient of variation 32% and interobserver limits were a ratio of 0.44–4.36. Doppler echocardiography: the intra‐ and interobserver errors were high for Doppler variables such as acceleration time, acceleration slope, stroke volume, cardiac output and vessel dimension. There was less error associated with measurements such as maximum Doppler velocity, velocity time integral, ejection time and heart rate.ConclusionsThe repeatability of most echocardiographic measurements in the fetus is poor. This applies particularly to volumetric data such as ventricular volumes and volume flow estimations. Interobserver errors are consistently higher than intraobserver errors, confirming that when sequential measurements are clinically important, the same observer should be used. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
Second‐trimester amniocentesis vs. chorionic villus sampling for prenatal diagnosis in multiple gestations
Authors: Antsaklis A. , Souka A. P. , Daskalakis G. , Kavalakis Y. , Michalas S. 
Published: March 2003

AbstractObjectiveTo study the impact of invasive procedures for prenatal diagnosis on multiple pregnancies and compare first‐trimester chorionic villus sampling with second‐trimester amniocentesis.DesignRetrospective study of 347 second‐trimester amniocenteses and 69 chorionic villus sampling procedures.ResultsMiscarriage occurred in 4.18% of women after amniocentesis and 4.54% of women after chorionic villus sampling. In the amniocentesis group the risk of miscarriage was higher in the cases with transplacental entry (4.54%) than in those with transamniotic entry (2.08%). The rates of preterm delivery ≤ 32 weeks and preterm delivery ≤ 35 weeks in the amniocentesis group were 11.8% and 32.4% and in the chorionic villus sampling group 16.66% and 23.8%, respectively. Total fetal loss rate was similar in the amniocentesis group (8.8%) and the chorionic villus sampling group (10.22%). In the 21 cases where selective feticide was carried out the total fetal loss rate was lower in the chorionic villus sampling group (8.3%) than in the amniocentesis group (11.1%), although the difference did not reach statistical significance.ConclusionChorionic villus sampling appears to be a safe alternative to amniocentesis and should be considered as the method of choice particularly when there is a high risk of an affected fetus necessitating selective feticide. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
Autosomal recessive type of Adams–Oliver syndrome: prenatal diagnosis
Authors: Becker R. , Kunze J. , Horn D. , Gasiorek‐Wiens A. , Entezami M. , Rossi R. , Guschmann M. , Sarioglu N. 
Published: March 2003

AbstractWe report on three pregnancies complicated by Adams–Oliver syndrome in a consanguineous Turkish couple. Two cases were correctly diagnosed prenatally at 22+3 and 13+0 weeks gestation following the first case of Adams–Oliver syndrome in which severe anomalies of the extremities were observed at 26+5 weeks' gestation. In this first case, the diagnosis of Adams–Oliver syndrome was made following termination of pregnancy at 27+2 weeks' gestation. In all three cases, autopsy was performed. All fetuses showed anomalies of the extremities, aplasia cutis and symmetric defects of the skull, with bone being replaced by collagenous tissue. Although there have been numerous cases of the postnatal diagnosis of Adams–Oliver syndrome following termination of pregnancy, this is the first description of the prenatal diagnosis of this disorder. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
P1 Regionalisation of the brain as an evolutionarily conserved developmental mechanism.
Authors: GALE E. , ZILE M. , MADEN M. 
Published: March 2003

Comparative studies of chordate neural connectivity and gene families have provided evidence for evolutionary conservation of the patterning mechanisms in brain development (review Holland & Holland, Curr. Opin. Neurobiol.9, 1999). Based on expression patterns of ascidian and amphioxus homologues of the Otx gene and the Hox1 gene and of the ascidian Pax‐2/5/8, the chordate brain has been suggested to have tripartite development (Wada et al., Development125, 1998; Kozmik et al., Development126, 1999). Primitively, the chordates have regions homologous to the vertebrate forebrain, anterior midbrain and posterior hindbrain while the posterior midbrain/anterior hindbrain region seems to be a vertebrate innovation. The extent of the homologies within each of these regions between the vertebrates and their ancestors is not fully determined but the similarity of Hox gene expression patterns suggests organisational constants over evolutionary time within the posterior hindbrain region.Identification of the posterior hindbrain region as a developmental unit in vertebrates is demonstrated in the retinoid‐deficient quail. Embryos laid by quails fed a retinoid‐deficient diet have no posterior hindbrain while the anterior hindbrain is specified normally. Through DiI cell lineage tracing and a temporal analysis of gene expression characteristic of this region (Krox‐20, Hoxb‐1, mafB, and fgf3), we have followed the development of this region of cells. From the initial formation of the neural plate phenotype in the retinoid‐deficient quail, there is no evidence of a posterior hindbrain. This region is never specified and all the cells of the hindbrain participate in an anterior hindbrain fate. A single retinoid injection in ovo during early development completely rescues the posterior hindbrain ensuring that the phenotype was the result of a single stimulus. Therefore cells from the posterior hindbrain respond in a coordinated regional manner to the presence or absence of a single gene inducer, retinoic acid.We present evidence of regionalisation of the vertebrate head that is up stream of segment specification. In combination with data from amphioxus and ascidians, this may represent a common mechanism for head development throughout chordate evolution. Interestingly, regional deletion with enlargement of the adjacent region is very reminiscent of the gap gene phenotype in Drosophila. It would be disregarding millions of years of divergent evolution to suggest that vitamin A is identical to a Drosophila gap gene inducer; nevertheless this data supports the hypothesis of common underlying regulation of axial regionalisation and gene hierarchies.
Bones in the heart skeleton of the otter (Lutra lutra)
Authors: EGERBACHER MONIKA , WEBER HEIKE , HAUER SILKE 
Published: March 2003

In most mammalian species the cardiac skeleton is composed of coarse collagen fibres, fibrocartilage, and pieces of hyaline cartilage. Bone, the os cordis, is a regular constituent of the ruminant heart. The cardiac skeleton of the otter (Lutra lutra) has not previously been described. The skeleton in 30 otter hearts was studied by x‐ray analysis and light microscopy. Serial sections were cut parallel to the atrioventricular plane and histochemical staining methods were performed to identify connective tissue fibres, glycosaminoglycans, mineral deposits, and bone. Age and sex of the animals under investigation were considered. The otter heart skeleton was composed of coarse collagen fibres with intercalated pieces of fibrous and/or hyaline cartilage, calcified cartilage, and lamellar bone with red or white marrow. Pieces of hyaline cartilage were not clearly defined: a perichondrial layer was missing and coarse connective tissue continuously transformed into fibrous and hyaline cartilage. In both sexes the amount of cartilage and bone were found to increase with age.Our results establish the presence of bony material in the heart skeleton of the otter, a small mammalian species. This finding indicates that differentiation of bone is not exclusively related to the size of the organ. Increasing amounts of calcified cartilage and bone correlated with increasing age.