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Biomedical subjects

B Bromley

Publications and source records attributed to B Bromley.

At least 37 records · Page 2Linked to original sources

The iliac angle as a sonographic marker for Down syndrome in second-trimester fetuses.

OBJECTIVE: To determine whether measurements of the iliac wing angle on sonograms of the second-trimester fetus can be used to detect fetuses at increased risk for Down syndrome. METHODS: All second-trimester Down syndrome fetuses karyotyped by amniocentesis over 5 years for whom adequate views of the iliac bones were available were reviewed retrospectively. The control group consisted of consecutive, normal second-trimester fetuses undergoing karyotyping during the same period. The angles between the iliac bones of the fetal pelves were measured on transverse sonograms, and the two groups were compared. A separate prospective evaluation of the ideal level for measurement of the iliac angle was made in two fetuses, one with and one without Down syndrome. RESULTS: We evaluated 38 Down syndrome and 46 control fetuses. The mean iliac-angle measurements differed significantly for the Down syndrome fetuses as compared with normal control fetuses: 78.8 degrees +/- standard deviation (SD) 18.5 and 66.9 degrees +/- SD 13.9, respectively. An iliac angle of at least 90 degrees was measured in 14 (36.8%) Down syndrome fetuses and in two (4.3%) control fetuses, also a significant difference. In a prospective pilot evaluation of two fetuses, we measured the largest iliac angle at the most cephalad level of the iliac bones, and the smallest angle was measured at the most caudad level. The iliac angle measurements for the fetus with Down syndrome ranged from 55 degrees to 100 degrees; for the normal fetus, the range was 52 degrees to 80 degrees. CONCLUSION: Although there is considerable overlap, the average iliac angle for fetuses with Down syndrome is significantly larger than that of normal fetuses. The angle measurement varies widely in any given fetus and is dependent on the level of the image. A prospective study is needed to evaluate the best level of angle measurement for the detection of fetuses with Down syndrome.

Adult↗

The incorporation of maternal age into the sonographic scoring index for the detection at 14-20 weeks of fetuses with Down's syndrome.

Sonographic markers for Down's syndrome have been useful in the identification of affected fetuses. In this study, we evaluated the accuracy of an expanded scoring index that included recently described sonographic markers as well as maternal age to optimize identification of fetuses with Down's syndrome. Over a 27-month period, we performed 4075 genetic amniocenteses for advanced maternal age or an abnormal triple panel. Prior to each amniocentesis, a complete sonographic assessment of the fetus was performed including a structural survey and fetal biometry. Each patient was assigned a score based on the sonographic markers in a previously reported scoring system, modified by the addition of an echogenic intracardiac focus. The sonographic scoring system was then combined with the assignment of additional points based on maternal age. Karyotypic results were obtained subsequent to the scans, and Down's syndrome fetuses and a control group of normal fetuses were compared. Fifty-three fetuses with Down's syndrome were identified by karyotype and compared to a control group of 177 normal fetuses. A score of > or = 2 as a criterion for a positive test resulted in the identification of 75.4% of fetuses with Down's syndrome, with a 5.7% false-positive rate. A score of > or = 1 increased the sensitivity to 83.0%, with a false-positive rate of 17.5%. The age-adjusted modification resulted in the identification of 86.8% of fetuses with Down's syndrome, with a false-positive rate of 27.1%. It is for the individual patient and her practitioner to weigh the risks and benefits in selecting her options for prenatal diagnosis.

Adult↗

Adnexal masses during pregnancy: accuracy of sonographic diagnosis and outcome.

We sought to determine the accuracy of sonographic diagnosis and perinatal outcome in pregnancies with maternal adnexal masses. All patients with a prenatal sonographic diagnosis of an adnexal mass measuring 4 cm or greater beyond 12 weeks of gestation were identified. Only masses associated with live fetuses, for which pathologic follow-up or direct visualization of the ovary was available at a single hospital, were included in the study. Sonographic evaluation of the pelvic mass was done prospectively at the time of the original scan and characterized on the basis of morphologic criteria. One hundred and twenty-five pregnant patients 21 to 47 years old with 131 lesions formed the study group. The pathologic diagnoses included 40 dermoids, 15 endometriomas, 14 cysts, 13 cystadenomas, nine tubal cysts, four fibroids, and one ovarian cancer. Six patients had complex pathologic lesions and five had unusual diagnoses. Twenty-four patients had normal ovaries on follow-up examination. Sonographically benign appearing lesions were seen in 89.3% of patients. Ninety-five percent of dermoids, 80% of endometriomas, and 71% of simple cysts were characterized correctly. Fourteen of the 131 lesions (10.7%) had sonographic characteristics suggestive of malignancy. One of these 14 patients (7%) had ovarian cancer. This represents a 0.8% malignancy rate among the total number of lesions. Twenty-four of the 125 patients (19%) underwent second trimester laparotomy at the discretion of their managing obstetricians, with no pregnancy losses. One patient had acute torsion of a dermoid at 39 weeks. Prenatal sonography can accurately characterize maternal adnexal lesions.

Adult↗

Unilateral lung hypoplasia: report of three cases.

We describe three cases of unilateral pulmonary agenesis as an etiological basis for a mediastinal shift in utero. This cause of mediastinal shift is easily overlooked in the differential diagnosis, which includes diaphragmatic hernia, adenomatoid cystic malformation, and sequestrations. The sonographic findings and obstetric outcome are presented.

Diagnosis, Differential↗

Acute reversal of oligohydramnios-polyhydramnios sequence in monochorionic twins.

Two cases of monochorionic diamniotic twin gestation with severe oligohydramnios-polyhydramnios sequence ('stuck' twin) are described. In each of these cases there was a marked fluctuation in amniotic fluid volume and reversal of which twin was 'stuck'. The definitive identification of the twins was evident due to a discordant fetal malformations in each twin pair.

Adult↗

Outcome of singleton pregnancies with severe oligohydramnios in the second and third trimesters.

We evaluated the significance of severe oligohydramnios, or anhydramnios, in the second and third trimesters, by determining the range of etiologies as well as the differences in fetal and neonatal outcome. All prenatal ultrasound results on pregnancies found to have severe oligohydramnios over a 7.5-year period at 13-42 weeks' gestation were retrospectively collected. Follow-up results were obtained from review of medical records, autopsies and pathology reports. A total of 250 singleton pregnancies met the criteria of having severe oligohydramnios. A bimodal distribution in gestational age at diagnosis was seen, with more cases diagnosed at 13-21 weeks and at 34-42 weeks. Fetal abnormalities were present in 50.7% of those diagnosed with severe oligohydramnios in the second trimester and in 22.1% of those in the third trimester. There were 10.2% and 85.3% survivors when severe oligohydramnios was diagnosed in the second and third trimesters, respectively. The rate of aneuploidy was at least 4.4% for the entire singleton population. A bimodal distribution of pregnancies presenting with severe oligohydramnios represents two different naturally occurring populations in terms of both etiology and prognosis.

Female↗

Choroid plexus cysts: not associated with Down syndrome.

We sought to determine whether there is an association between choroid plexus cysts identified in the second-trimester fetus and trisomy 21. Over a 7-year period, fetuses scanned between 14 and 22 weeks were prospectively evaluated for the presence of choroid plexus cysts. Follow-up on fetuses with choroid plexus cysts was obtained by review of the medical records. Over the same time period, the scans and reports of all fetuses with trisomy 21 detected in our laboratory by mid-trimester amniocentesis were reviewed. The prevalence of choroid plexus cysts in fetuses with and without trisomy 21 were compared by means of X2 analysis. A total of 473 fetuses with choroid plexus cysts were identified among 32,053 second-trimester fetuses. Sixteen fetuses were lost to follow-up, three had structural defects and normal karyotypes and 21 had abnormal karyotypes, two of which were trisomy 21. Other abnormal karyotypes included trisomy 18, unbalanced translocation and triploidy, previously reported elsewhere. The remaining 433 fetuses either had normal karyotypes or were normal newborns. The prevalence of choroid plexus cysts (excluding fetuses with trisomy 18) was 1.38% in our general population. During the study period, 143 fetuses with trisomy 21 were karyotyped in our laboratory, and two of these (1.40%) had choroid plexus cysts. Both had other sonographic abnormalities suggesting trisomy 21. The difference in prevalence of fetuses with choroid plexus cysts and trisomy 21 vs. those without trisomy 21 was not statistically significant (X2 = 0.98; relative risk (RR) = 1.02; 95% CI = 0.26, 4.03). We conclude that choroid plexus cysts occur with similar frequency in fetuses with trisomy 21 to that in fetuses from the general population. The finding of choroid plexus cysts should not be used to increase the patient's calculated risk of having a fetus with trisomy 21.

Adult↗

Agenesis of the corpus callosum: prenatal detection usually is not possible before 22 weeks of gestation.

PURPOSE: To determine whether agenesis of the corpus callosum can be diagnosed prenatally with standard ultrasonographic (US) evaluation before 22 weeks of gestation. MATERIALS AND METHODS: Initial scans obtained on or before 22 weeks and follow-up scans obtained in the third trimester were selected from all cases of agenesis of the corpus callosum diagnosed prenatally at the authors' laboratory. Follow-up was attained by means of review of the medical records and included imaging, karyotype, and clinical outcome. RESULTS: Among 15 fetuses with callosal agenesis confirmed by means of third-trimester scans, 10 had completely normal US scans at 16-22 weeks and five had other US abnormalities. Isolated callosal agenesis was identified in six children with normal development (except one with polydactyly). Among the others, four were developmentally delayed, three died, and two others had abnormal karyotype. CONCLUSION: Standard second-trimester US before 22 weeks of gestation may not show isolated callosal agenesis. Fetuses with this abnormality can have normal second-trimester scans and develop abnormal US findings in the third trimester.

Agenesis of Corpus Callosum↗

Subchorionic hemorrhage in first-trimester pregnancies: prediction of pregnancy outcome with sonography.

PURPOSE: To determine the effects of subchorionic hematoma size, gestational age, and maternal age on pregnancy outcome in patients with vaginal bleeding in the first trimester of pregnancy. MATERIALS AND METHODS: A retrospective review was performed with ultrasound images obtained in 516 patients with vaginal bleeding, a live fetus, and a subchorionic hematoma in the first trimester. Hematoma size was graded according to the percentage of the chorionic sac circumference elevated by the hematoma. Patients were also classified according to gestational age and maternal age. Logistic regression analysis was used to determine the effect of each variable on pregnancy outcome. RESULTS: The overall spontaneous abortion rate was 9.3% (48 of 516 patients). The rate nearly doubled when the separation was large (18.8%) compared with small and moderate hematomas (7.7% and 9.2%, respectively). A large separation was found to be associated with an almost three-fold increase in risk of spontaneous abortion. The spontaneous abortion rate was approximately twice as high for women aged 35 years or older versus younger women (13.8% and 7.3%, respectively) and for women with bleeding at 8 weeks gestation or less compared with those with bleeding at greater than 8 weeks gestation (13.7% vs 5.9%). CONCLUSION: For women with a subchorionic hematoma that is sonographically identified, fetal outcome is dependent on size of the hematoma, maternal age, and gestational age.

Abortion, Spontaneous↗

Sonographically detected abnormalities of the umbilical cord.

OBJECTIVES: This study was undertaken as a retrospective chart review to evaluate the range of umbilical cord abnormalities detected by prenatal sonography, as well as the outcome and pathologic correlation. METHODS: We identified 13 cases of umbilical cord abnormalities detected sonographically over a 46-month period. We evaluated the ultrasound appearance, size, location, and color Doppler characteristic in each case. RESULTS: There were 4 instances of clear cysts on the umbilical cord, 8 with complex masses, and 1 with complete, cystic encasement of the cord throughout its length. The pathology included vascular abnormalities (hemangioma, hematoma, varicosity), edema of the umbilical cord with pseudocysts, and syncytial knots. There was 1 known karyotypic abnormality (trisomy 13). Twelve of the 13 newborns survived; the neonatal death occurred in the fetus with trisomy 13. CONCLUSION: The presence of umbilical cord abnormalities may represent a variety of pathologic entities. Clinical outcome is usually favorable.

Female↗

Sonographic appearance of uterine scar dehiscence.

We describe the sonographic appearance of two cases of uterine scar separation in patients with prior cesarean deliveries. In the first case, the anteriorly located placenta appeared to be a placenta previa with accreta and in the second case the placenta was also located directly beneath the uterine scar thus masking a separation until the third stage of labor was complete. These two cases demonstrate an unusual sonographic and clinical presentation of uterine scar separation involving anteriorly located placentas.

Adult↗

Levorotation of the fetal cardiac axis: a clue for the presence of congenital heart disease.

OBJECTIVE: To evaluate the use of the cardiac axis within the chest for the prenatal detection of congenital heart defects. METHODS: We reviewed retrospectively the sonographic findings of all fetuses scanned between 17 and 40 weeks' gestation and diagnosed prenatally as having heart defects. The cardiac diagnoses were confirmed postnatally. The control group consisted of 75 consecutive fetuses with normal fetal surveys and newborn follow-up examinations. The cardiac axes were measured retrospectively using an image of the four-chamber view of the heart and measuring the angle between the interventricular septum and a line bisecting the chest. Mean and standard deviations (SDs) of the axis measurements in normal and abnormal fetuses were compared by Student t test. RESULTS: The 75 fetuses with heart defects diagnosed by prenatal sonogram had a mean cardiac axis of 56 +/- 13 degrees, compared with 43 +/- 7 degrees in normal fetuses (P < .001). Using 57 degrees (two SDs above the mean for normal fetuses) as the upper limit of normal, 33 of 75 (44%) abnormal fetuses versus none of 75 normal fetuses were identified. The frequency of cardiac rotation was greater in fetuses with truncus arteriosus, Ebstein's anomaly, pulmonic stenosis, coarctation of the aorta, and tetralogy of Fallot. CONCLUSION: The presence of a cardiac axis exceeding 57 degrees in the fetal chest is associated with a substantial risk of congenital heart defects. The finding of an abnormal axis should prompt further evaluation of the fetal heart.

Case-Control Studies↗

Echogenic intracardiac focus: a sonographic sign for fetal Down syndrome.

OBJECTIVE: To determine whether an echogenic intracardiac focus identified in the second-trimester fetus is related to an increased risk of Down syndrome. METHODS: During a 10-month period, all women with singleton gestations who underwent second-trimester genetic amniocentesis for non-imaging indications were evaluated prospectively by prenatal sonography. The presence or absence of an echogenic intracardiac focus was noted. Karyotypic information was obtained on each fetus. RESULTS: Among the 1334 patients in the study group, 66 fetuses (4.9%) had an echogenic intracardiac focus. Four of 22 fetuses (18%) with trisomy 21 had an echogenic intracardiac focus, compared with 62 (4.7%) of 1312 fetuses without Down syndrome who also had an echogenic intracardiac focus (P = .004). Sonographic identification of an echogenic intracardiac focus was associated with a fourfold increased risk of Down syndrome (risk ratio 4.3, 95% confidence interval 1.5-12.3). The overall prevalence of Down syndrome in our study population was 1.6%. The sensitivity, specificity, and positive predictive value for using the presence of an echogenic intracardiac focus to identify a fetus with Down syndrome was 18.2, 95.3, and 6.1%, respectively. Extrapolating to a lower risk population, the positive predictive value of an echogenic intracardiac focus for detecting Down syndrome in patients at an age-based risk of one in 250, one in 500, and one in 1000 was calculated to be 1.53, 0.77, and 0.39% respectively. CONCLUSION: Fetuses with an echogenic intracardiac focus have a significantly increased risk of Down syndrome. Although most fetuses with this finding are normal, patients carrying fetuses with an echogenic intracardiac focus should be counseled about the increased risk of trisomy 21.

Down Syndrome↗

Does gender have an impact on the sonographic detection of second-trimester fetuses with Down's syndrome?

The biometric and structural sonographic features of 95 second-trimester fetuses with Down's syndrome were evaluated to determine whether affected male fetuses differed from affected females. There were 54 male and 41 female fetuses with Down's syndrome studied. A shortened femur was identified in 28/54 (52%) males compared with 19/41 (46%) affected females (NS). A thickened nuchal fold was identified in 19/54 (35%) of males vs. 20/41 (49%) of females. Renal pyelectasis was seen in 7/54 (13%) males and 8/41 (19%) females. A heart defect was seen in 8/54 (15%) males and 7/41 (17%) females. Ventriculomegaly was identified in 6/54 (11%) males and 3/41 (7%) females with Down's syndrome. There were no statistically significant differences in the incidence of the sonographic findings when male and female Down's fetuses were compared. Our data show that the criteria for evaluation of sonographic markers for the identification of second-trimester fetuses with Down's syndrome should be the same in male and female fetuses.

Abnormalities, Multiple↗

Fetal liver calcifications: sonographic appearance and postnatal outcome.

PURPOSE: To determine the importance of intrahepatic calcifications seen sonographically in the fetus. MATERIALS AND METHODS: The authors retrospectively reviewed sonograms obtained in fetuses scanned between 16 and 40 gestational weeks in whom intrahepatic calcifications were seen. The number and character of these calcifications were determined. Follow-up scans obtained in utero and after birth were also reviewed. Outcome was determined after birth. RESULTS: Thirty-three fetuses had intrahepatic calcifications at 16-38 weeks gestation. Four of the 33 fetuses died, one of which had liver calcifications as the only sonographic finding. This fetus had cytomegalovirus and was the only fetus with increasing numbers of calcifications on follow-up scans. All fetuses with isolated liver calcifications had a normal postnatal outcome (96% survival rate for fetuses with isolated intrahepatic calcifications). Of eight fetuses with additional anomalies, five lived; only two were healthy newborns. CONCLUSION: The outcome in fetuses with isolated intrahepatic calcifications is usually excellent, although viral causes must be excluded if additional findings appear.

Abnormalities, Multiple↗

Abnormalities of the hands and feet in the fetus: sonographic findings.

This pictorial essay illustrates abnormalities of the hands and feet that sonography depicts and describes their associations with chromosomal abnormalities, syndromes, and other pathology. Examination of the extremities, although not listed in the guidelines of the American Institute of Ultrasound in Medicine for standard obstetric sonography, is a critical adjunct to fetal imaging and is needed to diagnose many syndromes. Anomalies of the hands and feet may involve all limbs or be focal, involving a single distal ray. Although this essay focuses on defects of the hands and feet, these defects are often part of more global defects that include the rest of the limb as well. For this reason, anomalies of the limbs that relate primarily to defects of the hands and feet will also be demonstrated. Evaluation of the hands and feet is an important part of the structural survey of the fetus at all gestational ages, as it provides an adjunct to the diagnosis of many syndromes, including chromosomal abnormalities. Even isolated limb anomalies may be important to diagnose antenatally so that proper care can be instituted postnatally for families and their newborns.

Abnormalities, Multiple↗