bluuebunny/crossref_metadata_2025_split huggingface dataset:
45,X/46,XY mosaicism: the role of ultrasound in prenatal diagnosis and counselling
Authors: Lazebnik N. , Filkins K. A. , Jackson C. L. , Linn K. B. , Doshi N. N. , Hogge W. A. 
Published: March 2003

AbstractThe purpose of this study was to assess the benefit of ultrasound evaluation for fetuses with prenatally diagnosed 45,X/46,XY mosaicism. The charts of all patients who underwent chorionic villus sampling and/or amniocentesis between 1 March 1990 and 31 October 1995 were screened for 45,X/46,XY mosaicism. Cases were divided on the basis of the results of the confirmatory amniocentesis into two groups: (1) confined placental mosaicism (n = 4); and (2) true fetal 45,X/46,XY mosaicism (n = 4). All patients underwent high‐resolution detailed ultrasound study between 16 and 22 weeks. If the initial ultrasound study failed to visualize fetal genitalia, scanning was repeated in 2 weeks. Chromosome analysis was carried out on the newborn's skin to confirm the prenatal result. Six cases were found to have 45,X/46,XY mosaicism on chorionic villus sampling. Amniocentesis indicated a normal 46,XY male karyotype for three fetuses and true fetal 45,X/46,XY mosaicism for two cases. One patient declined follow‐up amniocentesis. At birth, this newborn was documented to have normal male genitalia and a 46,XY karyotype. An additional two cases underwent amniocentesis only and were documented to have 45,X/46,XY mosaicism. High‐resolution detailed ultrasound study between 16 and 22 weeks revealed seven fetuses with normal male genitalia and one fetus with ambiguous genitalia. Of the four neonates with true 45,X/46,XY mosaicism this was the only one found to have ambiguous genitalia. We conclude that the work‐up of patients with 45,X/46,XY mosaicism should include ultrasound study to look for ambiguous genitalia. This allows appropriate counselling regarding the natural history of the condition and aids in the planning for management in the postnatal period. Copyright © 1996 International Society of Ultrasound in Obstetrics and Gynecology
Prenatal diagnosis of type 2 Pfeiffer syndrome
Authors: Bernstein P. S. , Gross S. J. , Cohen D. J. , Tiller G. R. , Shanske A. L. , Bombard A. T. , Marion R. W. 
Published: March 2003

AbstractPfeiffer syndrome is an autosomal dominantly inherited disorder consisting of craniosynostosis, a flattened midface with a beaked nose and ocular proptosis, and broad and medially deviated thumbs and great toes. Recently, based on clinical findings, the disorder has been divided into three subtypes: type 1, characterized by mild expression; type 2, in which clover leaf skull deformity and multiple congenital anomalies are present at birth; and type 3, which is similar to type 2, but lacks the presence of the clover leaf skull at birth.We describe a fetus in whom sonographic findings of clover leaf skull deformity, ocular hypertelorism, and varus deformity of the great toe led to the prenatal diagnosis of Pfeiffer syndrome type 2. We believe this is the second prenatal diagnosis of Pfeiffer syndrome, and the first time type 2 has been definitely identified in the second trimester of pregnancy. Copyright © 1996 International Society of Ultrasound in Obstetrics and Gynecology
Postnatal vesico‐ureteral reflux in a boy with urinary bladder dysfunction as the only prenatal sonographic sign
Authors: Fägerquist M. , Sillén U. , Blomberg S. G. 
Published: March 2003

AbstractAn antenatal ultrasonographic examination of a male fetus at 31, 33 and 36 weeks' gestation revealed grossly abnormal bladder function. The bladder cycle length, residual volumes and the degree of distention all markedly deviated from normal, although hydronephrosis which is indicative of vesico‐ureteral reflux could not be detected. Furthermore, postnatally no anatomical urethral obstruction was found to explain the high bladder volumes. Postnatal investigation revealed bilateral reflux and bladder dysfunction with detrusor instability, a reduced bladder capacity and a high voiding pressure similar to that observed in boys with anatomic obstruction of the urethra and/or posterior urethral valves. These findings add to the controversy concerning the genesis of vesico‐ureteral reflux and have implications for the prenatal assessment of bladder function in cases of suspected vesico‐ureteral reflux. Copyright © 1997 International Society of Ultrasound in Obstetrics and Gynecology
Computerized analysis of behavior in fetuses with congenital abnormalities
Authors: Vindla S. , Sahota D. S. , Coppens M. , James D. K. 
Published: March 2003

AbstractAn observational study was undertaken to evaluate a computerized fetal behavior program in a clinical setting. Behavior of normal fetuses was compared with that of fetuses with a variety of congenital abnormalities.Forty‐three fetuses were studied at 28–36 weeks; 26 were normal (49 recordings) and 16 had congenital abnormalities (26 recordings; ten had structural abnormalities of the central nervous system, one had Down's syndrome and five had other abnormalities). Behavior was recorded with the use of Doppler ultrasound. The duration of each recording was 60 min or more in all but two instances. The behavioral criteria studied were (1) the relative percentage of time spent in low and high fetal heart rate (FHR) variation; and (2) the percentage of time fetal activity was detected in low and high FHR variation.Fetuses with abnormalities exhibited varying patterns of behavior: only eight had patterns of FHR variation that were within the 10th and 90th centiles for normal fetuses and only one fetus exhibited a fetal activity pattern that was between the 10th and 90th centiles for the normal group. All the abnormal fetuses had a FHR pattern and/or fetal activity rate outside the 10th or 90th centiles.This study suggests that such a computerized behavioral analysis program may serve as a functional adjunct to the evaluation of a fetus with structural abnormalities. Copyright © 1997 International Society of Ultrasound in Obstetrics and Gynecology
Reproducibility of transvaginal Doppler velocimetry measurements in the uterine arteries of postmenopausal women
Authors: Tekay A. , Järvelä I. , Jouppila P. 
Published: March 2003

AbstractIntraobserver and interobserver reproducibility of transvaginal Doppler velocimetry measurements in uterine arteries were assessed by two observers in 20 postmenopausal women. In addition, the agreement between the observers regarding the detection of an ovary as well as the presence or absence of intraovarian arterial blood flow was documented.Pulsatility index (PI), peak systolic velocity (PSV) and time‐averaged maximum velocity (TAMV) measurements in uterine arteries were made twice by the same investigator (IJ). Thereafter, the same measurements were made by the second investigator (AT). The agreement in categorical data was studied by using 2 × 2 tables and Cohen's κ‐coefficient. Reproducibility of the Doppler measurements was analyzed by using coefficient of variation, repeatability coefficient, intraclass correlation coefficient, mean differences and limits of agreement. In addition, the 95% confidence interval was calculated as appropriate.There was agreement of 95–100% between the observers with respect to the detection of an ovary in transvaginal scanning. Agreement regarding the presence or absence of intraovarian arterial blood flow, however, was only 75–81%.Intraobserver repeatability was (very good, the intraclass correlation coefficient being 0.98–0.99 and the coefficient of variation 6% in PI measurements. The PSV measurements showed an intraclass correlation coefficient of 0.94–0.96 and a coefficient of variation of 10–12%. The intraclass correlation coefficient for TAMV measurements was 0.94 and the coefficient of variation varied from 12 to 16%.Interobserver agreement was good. There was no bias between the observers' measurements. The intraclass correlation coefficient for PI measurements was between 0.93 and 0.95, and the coefficient of variation was 11%. For PSV measurements, the intraclass correlation coefficient was 0.79–0.80 and the coefficient of variation was l8–29%. TAMV measurements showed an intraclass correlation coefficient of 0.83–0.84 and a coefficient of variation of 19–29%. When the limits of agreement for Doppler velocimetry measurements are considered, we expect the two observers to give PI measurements that differ by less than 0.7, with any discrepancy being equally likely in either direction.In conclusion, based on the high intraclass correlation coefficients, the intraobserver repeatability of all Doppler parameters was very good, the most reliable measurement being the PI. Variation in PSV and TAMV measurements increased considerably, however, when Doppler velocimetry was carried out by two investigators instead of one. Copyright © 1997 International Society of Ultrasound in Obstetrics and Gynecology
Color Doppler energy imaging in the diagnosis of fetal intracranial hemorrhage in the second trimester
Authors: Guerriero S. , Ajossa S. , Mais V. , Risalvato A. , Angiolucci M. , Labate F. , P. Lai M. , Melis G. B. 
Published: March 2003

AbstractUnlike conventional color Doppler imaging, color Doppler energy (or power Doppler) displays the intensity of the returning Doppler signal, is less dependent on the orientation of the blood vessel, and is therefore better able to detect low blood velocities. For these reasons it could be useful in some investigations which are difficult to perform, such as transvaginal evaluation of fetal brain vessels. We report a case of a fetal intracranial hyperechoic lesion detected at 26 weeks by transabdominal sonography in a severely growth‐retarded fetus. There was absence of diastolic flow in the umbilical artery and low impedance to diastolic flow in the middle cerebral arteries. The fetus was further investigated by transvaginal sonograpy for the evaluation of the nature and localization of the lesion and an intraventricular hemorrhage in the right brain parenchyma with disorganized supratentorial brain structure was observed. As color Doppler energy imaging is more sensitive to slow flow, it was more reliable than conventional Doppler imaging in confirming the absence of flow within and around the hyperechoic lesion in contrast to the normal vascularity of the contralateral ventricular system. After informed parental counselling, the mother, for psychological reasons, asked to be delivered by Cesarean section. The fetus died 24 h after birth. The autopsy corroborated the ultrasonographic diagnosis. This case report confirms the accuracy of transvaginal ultrasonography in the diagnosis of intracranial hemorrhage and suggests a specific role for color Doppler energy imaging. Copyright © 1997 International Society of Ultrasound in Obstetrics and Gynecology
Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias
Authors: Dugoff L. , Coffin C. T. , Hobbins J. C. 
Published: March 2003

AbstractThe object of this study was to establish new normative data for the fetal rib cage perimeter to thoracic circumference ratio, and to evaluate the potential application of this measurement in the diagnosis of short rib and other skeletal dysplasias. Rib cage perimeter (RCP) and thoracic circumference (TC) were measured in a prospective, cross‐sectional sample of 88 patients with normal pregnancies between 14 and 39 weeks of gestation. The RCP and TC were both measured in cross‐section, at a level of the four‐chamber view of the fetal heart. RCE and TC measurements were also obtained from eight cases known to have skeletal dysplasias.The mean (± SE) RCP : TC ratio in normal pregnancies, regardless of gestational age, was 0.670 ± 0.004. In five of eight cases with skeletal dysplasias the RCP : TC ratio was significantly decreased, and in one case it was increased.The RCP : TC ratio in normal fetuses is independent of gestational age. In this small series the ratio was abnormal in fetuses with certain skeletal dysplasias, and particularly decreased in the fetus with a short rib‐polydactyly syndrome. After further evaluation, this technique may prove to be of clinical significance in helping to diagnose skeletal dysplasias, particularly in cases where the gestational age is uncertain. Copyright © 1997 International Society of Ultrasound in Obstetrics and Gynecology
Transvaginal ultrasonographic characterization of ovarian masses: comparison of five scoring systems in a multicentric study
Authors: Ferrazzi E , Zanetta G , Dordoni D , Berlanda N , Mezzopane R , Lissoni A A 
Published: March 2003

AbstractThis paper was originally published in Ultrasound Obstet Gynecol 1997; 10:192–7.
The initials of the name of Dr Andrea A Lissoni were wrongly given as G. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology
In utero ultrasonographic measurements of fetal aortic and pulmonary artery diameters during the first half of gestation
Authors: Achiron R. , Golan‐Porat N. , Gabbay U. , Rotstein Z. , Heggesh J. , Mashiach S. , Lipitz S. 
Published: March 2003

AbstractThe study was conducted to construct a normal range for the diameters of the aortic root and pulmonary artery during the first half of gestation. With the use of transvaginal and transabdominal high‐resolution ultrasound techniques, a prospective, cross‐sectional study was performed on 139 normal singleton pregnancies at between 14 and 26 weeks. Great vessel diameters were measured by transvaginal ultrasonography until 17 weeks, and by transabdominal ultrasound between 18 and 26 weeks' gestation. The results showed that the aortic diameter (AD) as a function of gestational age (GA) was expressed by the regression equation AD = −16.0331 + 2.2563 × GA, and the pulmonary artery diameter (PD) by PD = −14.7637 + 2.4026 × GA; AD and PD are expressed in millimeters and GA in weeks. The correlation r2 = 0.94 was found to be highly statistically significant (p < 0.0001) for both great vessels. The normal mean of aortic and pulmonary artery diameter per week and the 95% prediction limits were also defined. During the study period we evaluated two cases with arterial diameters outside the 95% confidence limits; one had aortic coarctation and the other tetralogy of Fallot. The normative data established by us may be helpful in the prenatal diagnosis of congenital heart defects that include, among their manifestations, discordant diameters of the great vessels. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology
Development of fetal male gender: prenatal sonographic measurement of the scrotum and evaluation of testicular descent
Authors: Achiron R. , Pinhas‐Hamiel O. , Zalel Y. , Rotstein Z. , Lipitz S. 
Published: March 2003

AbstractThe study was conducted to construct a centile chart of fetal scrotal size and to determine gestational age at testicular descent. A prospective, cross‐sectional study was performed on 210 fetuses of normal, singleton pregnancies between 14 and 37 weeks' gestation. Scrotal circumference was measured by transvaginal ultrasonography and abdominal ultrasound between 14 and 17 weeks' and 18 and 35 weeks' gestation, respectively. The regression equation for scrotal circumference (SC) modelled as a function of gestational age (GA) was:

The correlation r = 0.96 was found to be highly statistically significant (p < 0.0001). The prediction of scrotal circumference per week and the 95% confidence interval (CI) were defined. Testicular descent was not observed prior to 25 weeks' gestation, with 30% of the fetuses having one or both testes descended at 25 weeks (p < 0.001) and 97% after 32 weeks. The presented normative data may be helpful in the prenatal diagnosis of suspected congenital syndromes that include, among their manifestations, scrotal abnormalities and early detection of cryptorchidism. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology
Suggested ultrasound parameters for the assessment of fetal well‐being during chronic hemodialysis
Authors: Malone F. D. , Craigo S. D. , Giatras I. , Carlson J. , Athanassiou A. , D'Alton M. E. 
Published: March 2003

AbstractThere are no published guidelines on how to assess fetal well‐being during hemodialysis. We have developed a specific protocol of renal and obstetric interventions to ensure that hemodialysis is associated with minimal changes in fetal status. We tested this protocol serially over a 9‐week period in a pregnant patient who was undergoing chronic hemodialysis for end‐stage renal disease. Testing involved serial assessments of uterine and umbilical artery blood flow with Doppler velocimetry and continuous fetal heart rate tracings, before, during and after each hemodialysis session. We found that, by strict adherence to these guidelines, there were no significant alterations in maternal mean arterial blood pressure, continuous fetal heart rate tracings, uterine artery systolic/diastolic ratios, or umbilical artery systolic/diastolic ratios. We conclude that stable uteroplacental and fetal perfusion can be maintained during chronic hemodialysis in pregnancy by adhering to a specific set of precautions. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology
Arterial and venous Doppler velocimetry in the severely growth‐restricted fetus and associations with adverse perinatal outcome
Authors: Ozcan T. , Sbracia M. , d'Ancona R. L. , Copel J. A. , Mari G. 
Published: March 2003

AbstractObjectiveTo evaluate the association between arterial and venous Doppler waveforms and adverse perinatal outcome in severe intrauterine growth restriction.DesignFetuses between 26 and 32 weeks' gestation with ultrasonographically estimated fetal weight below the 5th centile were included in this prospective study. The last Doppler measurements of the umbilical artery, ductus venosus, umbilical vein and middle cerebral artery before delivery and adverse outcome parameters without gestational age independence were used for statistical analysis. Adverse outcome parameters were defined as the following: fetal demise or neonatal death in the first 30 days of life; 5‐min Apgar score of < 7; intubation at birth; retinopathy of prematurity; respiratory distress syndrome; necrotizing enterocolitis; stay in neonatal intensive care unit of more than 60 days; intraventricular hemorrhage; periventricular leukomalacia.ResultsNineteen fetuses fulfilled the inclusion criteria. Perinatal death, low 5‐min Apgar values and necrotizing enterocolitis were gestational age‐independent adverse outcome parameters. Abnormal Doppler velocimetry of the ductus venosus was the only significant parameter associated with perinatal death and low 5‐min Apgar scores. None of the Doppler parameters predicted necrotizing enterocolitis.ConclusionOur data suggest that management of severely growth‐restricted fetuses may be aided by the study of ductus venosus Doppler velocimetry. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology
Jarcho‐Levin syndrome: two consecutive pregnancies in a Puerto Rican couple
Authors: Wong G. , Levine D. 
Published: March 2003

AbstractThis report describes two consecutive pregnancies in a Puerto Rican woman that were complicated by the autosomal recessive form of Jarcho‐Levin syndrome (spondylothoracic dysplasia). This syndrome, with multiple vertebral and rib malformations, leads to respiratory insufficiency and early neonatal death. The prenatal sonographic appearance is characterized by the presence of fanned‐out ribs from fused thoracic vertebral bodies. The features that distinguish spondylothoracic dysplasia and another subtype of Jarcho‐Levin syndrome, spondylocostal dysplasia, are discussed. Prenatal diagnosis allows for parental counselling and the possibility of termination of pregnancy if the lethal type of spondylothoracic dysplasia is diagnosed prior to fetal viability. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology
Ultrasonographic and color Doppler analysis in the treatment of polycystic ovary syndrome
Authors: Battaglia C. , Genazzani A. D. , Artini P. G. , Salvatori M. , Giulini S. , Volpe A. 
Published: March 2003

AbstractObjectiveTo compare the effect of a gonadotropin releasing hormone (GnRH) analog plus ‘add‐back’ oral contraceptive (OC) therapy with OC therapy alone on the clinical and hormonal parameters that are characteristic of polycystic ovary syndrome (PCOS).DesignProspective, randomized study.SubjectsThirty PCOS patients were randomly assigned to treatment with leuprolide acetate for depot suspension plus a combined monophasic OC (Group I) or to OC alone (Group II).MethodsHormonal (luteinizing hormone (LH), follicle stimulating hormone (FSH), LH : FSH concentration ratio, estradiol, androstenedione, testosterone), clinical (Ferriman‐Gallwey score), ultrasonographic (ovarian volume, number of subcapsular follicles, stromal score) and Doppler (uterine artery and ovarian intraparenchymal vessels' pulsatility index, ovarian stromal vascularization) parameters were evaluated during 6 months' therapy and 6 months' follow‐up.ResultsSignificant changes in all the parameters analyzed occurred as a result of therapy and the changes were more marked in the group undergoing treatment with GnRH analog plus OC.ConclusionsGnRH analog plus OC use has a more rapid and marked effect on the hormonal milieu as well as the ovarian architecture and vascularization in patients with PCOS than OC used alone. The former treatment may be a more efficient therapy for PCOS. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology
Stuck twin syndrome without signs of twin‐to‐twin transfusion
Authors: Lees C. C. , Schwärzler P. , Ville Y. , Campbell S. 
Published: March 2003

AbstractTwin‐to‐twin transfusion syndrome represents a dilemma for both diagnosis and management. It has recently been suggested that a difference in contrast on B‐mode ultrasound between the placentas is pathognomonic for the syndrome. We describe a case of monochorionic diamniotic twins with normal growth in one twin, the other showing features of stuck twin syndrome. In this case, although the contrast difference between the placentas was marked, twin‐to‐twin transfusion syndrome was ruled out, rendering this sign unreliable for diagnosis. Furthermore, evaluation of the stuck twin showed excessive adrenal artery flow, a feature that has been described in connection with poor antenatal and neonatal outcome. In this case, serial Doppler ultrasound evaluation of both fetuses enabled optimal timing of delivery. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology