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Biomedical subjects

B Bromley

Publications and source records attributed to B Bromley.

At least 19 recordsLinked to original sources

Three-dimensional prenatal diagnosis of frontonasal malformation and unilateral cleft lip/palate.

Frontonasal malformation includes a spectrum of anomalies involving the eyes, nose, lips, forehead and brain. We present a case in which a fetal labial cleft was initially identified using traditional two-dimensional sonography. Three-dimensional sonography with multiplanar reconstruction and surface-rendering were essential to establish the diagnosis of frontonasal malformation with severe nasal hypoplasia and unilateral complete cleft lip/palate.

Adult↗

Variation in fetal femur length with respect to maternal race.

We sought to evaluate whether the expected fetal femur length, based on biparietal diameter, varies in second-trimester fetuses with respect to maternal race. The study population was composed of all fetuses scanned from 15 to 20 completed weeks' gestation during a 2-month period (June to August 1998). Maternal race was documented at the time of the ultrasonographic examination. Biparietal diameter and femur length were prospectively documented. The variance from the expected femur length, given the biparietal diameter, was calculated, and the mean variations were compared according to maternal race. The study subgroups were composed of the fetuses of 39 Asian mothers, 31 black mothers, and the first 100 white mothers. The mean values of the variance from the expected fetal femur length by biparietal diameter +/- 1 SD for the various racial groups were as follows: fetuses of Asian mothers, -0.66 +/- 1.64 mm; fetuses of black mothers, 0.88 +/- 1.57 mm; and fetuses of white mothers, 0.13 +/- 1.66 mm (P = .0007). To isolate the differences among the 3 racial groups, the mean values of the variance from the expected femur length by biparietal diameter for the fetuses of Asian and black mothers were compared with the mean value for the fetuses of white mothers (Asian versus white mothers, P = .014; black versus white mothers, P = .026). A significant difference in the mean variance from the expected femur length by biparietal diameter was identified among the fetuses of women in the second trimester with respect to racial group. Less-than-expected femur lengths were noted among the fetuses of Asian mothers, and greater-than-expected femur lengths were noted among the fetuses of black mothers, compared with the femurs of fetuses of white mothers. The implications for the use of fetal femur length as a component of the genetic sonogram in patients of various races require further study.

Asian People↗

Isolated polydactyly: prenatal diagnosis and perinatal outcome.

Our objective was to determine the clinical significance of isolated polydactyly identified on prenatal sonogram. All patients with sonographically detected isolated polydactyly scanned over an 11-year period were identified from our database. All patients underwent detailed surveys, and follow-up was obtained by review of the medical records and telephone conversations with parents and referring physicians. Thirteen patients with isolated polydactyly were identified. Follow-up was available in 12 patients. Indications for referral included advanced maternal age (2), second-opinion polydactyly (4), family history of polydactyly (1), uncertain dates (5), and growth (1). The gestational ages at the times of sonographic diagnosis ranged from 17.5 to 34 weeks with all but one case being identified before 23 weeks. Prenatal identification included polydactyly of the upper limb (8), lower limb (4), and both upper and lower limbs (1). Postaxial polydactyly was seen in 12 patients and preaxial in one. Polydactyly was confirmed in all 12 cases in which follow-up was available. Karyotypes were normal in all five fetuses in which amniocentesis was performed. Ten of 12 fetuses were born alive, one died in utero at 34 weeks as a complication of severe pre-eclampsia and one died at term as a result of a cord accident. No surviving neonate had any other identifiable malformation or suspected karyotypic abnormality. In conclusion isolated polydactyly identified by prenatal sonography is associated with good perinatal outcome.

Adult↗

The prognostic significance of hyperextension of the fetal head detected antenatally with ultrasound.

OBJECTIVES: The purpose of this study was to evaluate the clinical significance of hyperextension of the fetal head detected by ultrasound prior to the onset of labour. METHODS: Over a 10-year period, we retrospectively identified all fetuses who had hyperextension of the fetal head reported on antenatal ultrasound. Hyperextension referred to persistence of the cervical spine in extreme extension, with an extension angle of at least 150 degrees persisting for the duration of the scan. Follow-up information was obtained from Hospital medical records and obstetrical care providers. RESULTS: Follow-up was obtained on 57 of the 65 fetuses (87.7%) identified over the study period. Ten of the 57 fetuses had normal structural fetal surveys and had sonographically identified resolution prior to delivery. All 10 patients delivered at term and had newborns with normal neonatal courses. Twenty-six of 57 fetuses had no sonographic findings other than persistent hyperextension, and 19 of these 26 fetuses (73%) had normal neonatal courses. Twenty-one of 57 fetuses (37%) had structural anomalies sonographically identified in addition to hyperextension of the fetal head. All 21 of these pregnancies ended in either termination or fetal or neonatal demize. CONCLUSIONS: Although resolution of isolated hyperextension of the fetal head is associated with a normal neonatal outcome, persistent isolated hyperextension of the fetal head can be associated with either a normal or an abnormal neonatal outcome. Fetuses with hyperextended heads and antenatally diagnosed structural anomalies have dismal outcomes. The identification of a fetus with hyperextension of the fetal head should prompt a detailed search for structural abnormalities.

Cervical Vertebrae↗

The frequency of the detection of fetal echogenic intracardiac foci with respect to maternal race.

OBJECTIVE: To determine if there is a racial difference in the frequency of identification of echogenic intracardiac foci (EIF) seen sonographically in the hearts of second-trimester fetuses. METHODS: Over a 2-month period (June 1998-August 1998), all fetuses scanned between 15 and 20 completed weeks' gestation were evaluated prospectively for the presence or absence of EIF. Pregnancies specifically referred for the presence of EIF were excluded. The sonographer performing the scan indicated maternal race as Asian, black, white, or (if maternal race was not clear) unknown. Maternal race, gestational age, and the presence or absence of EIF were prospectively documented. Follow-up of those fetuses with EIF was obtained from the referring physicians' offices. The groups were compared with respect to maternal race and presence or absence of EIF. RESULTS: There were 46, 34, 400, and nine fetuses of the Asian, black, white, and unknown mothers, respectively. The mean gestational age +/- 1 SD at examination was 18.2 +/- 1.6, 17.5 +/- 1.4, 17.7 +/- 1.5, and 17.8 +/- 1.1 weeks, for the Asian, black, white, and unknown mothers, respectively. The incidence of sonographically detected EIF was 30.4, 5.9, 10.5 and 11.1% for the Asian, black, white, and unknown mothers, respectively, P = 0.001. In a multivariate logistic regression model, Asian mothers had an odds ratio of 3.8 (95% CI, 1.8, 7.6) for having a fetus identified as having EIF, as compared with white mothers. CONCLUSIONS: The Asian patient is more likely than patients of other races to have a fetus with identified EIF. The counseling implications for Asian mothers undergoing midtrimester sonography when EIF is identified should be tempered, due to the increased frequency of EIF as a normal finding in the Asian population.

Chi-Square Distribution↗

Is a full bladder still necessary for pelvic sonography?

The objective was to determine whether a full bladder is routinely necessary for a complete sonographic evaluation of the female pelvis. Over the course of 1 month, all women having a gynecologic sonogram were scanned initially transabdominally through a full bladder by the sonographer (standard images taken). A physician then joined the sonographer and scanned the patient transvaginally without prior knowledge of the findings seen transvesically. The physician finished the examination transabdominally, with the bladder empty. The physician and sonographer then determined (1) whether the scan was sufficient transvaginally only, (2) whether the scan was sufficient transvaginally and transabdominally with an empty bladder, or (3) or whether a full bladder was necessary. Two hundred and six consecutive patients were scanned prospectively. The transvaginal scan alone was sufficient to demonstrate all findings for 172 (83.5%) patients. The transvaginal and transabdominal scans through an empty bladder were needed for 31 (15.1%) patients. Three patients (1.5%) required a full bladder in addition to the other two techniques to visualize one normal ovary each. In conclusion, transvaginal scanning with an adjunctive transabdominal empty bladder approach can replace the full bladder technique for routine pelvic sonography. The transabdominal scan with an empty bladder is necessary, particularly for patients with enlarged uteri. It is no longer reasonable, however, to subject all patients undergoing pelvic sonography to bladder distention.

Adolescent↗

Adenomyosis: sonographic findings and diagnostic accuracy.

The purposes of this study were to evaluate the accuracy of pelvic sonography in identification of adenomyosis and to characterize the most commonly seen sonographic features. We identified all patients over a 10 year period in whom a prospective diagnosis of adenomyosis was suspected on the basis of sonographic findings and who had undergone hysterectomy at a single hospital. Patients were referred for sonography based on standard indications. Sonographic features used in the diagnosis of adenomyosis consisted of two or more of the following: a mottled inhomogeneous myometrial texture, globular appearing uterus, small cystic spaces within the myometrium, and a "shaggy" indistinct endometrial stripe. Correlation was made with the pathology report on the hysterectomy specimen. Fifty-one women met the study criteria. Forty-three of 51 (84.3%) patients sonographically suspected of having adenomyosis were confirmed as having adenomyosis by pathologic examination. All patients with adenomyosis had a mottled heterogeneous appearing uterus, 95% had a globular uterus, 82% had small myometrial lucent areas, and 82% had an indistinct endometrial stripe. Eight patients (15.6%) who had been suspected of having adenomyosis by pelvic sonography did not have adenomyosis reported in the pathology specimen. Six of these eight (75%) patients had multiple small fibroids, one had stage IV endometriosis, and one had a normal uterine specimen with no evidence of pathology. Pelvic sonography provides an accurate diagnosis of adenomyosis in the majority of cases.

Adult↗

The sonographic diagnosis of Dandy-Walker and Dandy-Walker variant: associated findings and outcomes.

Outcomes of pregnancies with sonographically diagnosed Dandy-Walker (DW) or Dandy-Walker variant (DWV) syndromes vary widely. We examined our own experience with these diagnoses in an effort to identify those sonographic features that best predicted neonatal outcome. We identified 50 fetuses with DW and 49 with DWV diagnosed sonographically. Eighty-six per cent of fetuses with DW and 85% of fetuses with DWV had other sonographically identifiable anomalies, the most common being ventriculomegaly (DW: 32%; DWV: 27%) and cardiac defects (DW:38%; DWV: 41%). Forty-six per cent and 36% of available karyotypes in cases of DW and DWV, respectively, were abnormal. 50 out of 99 women in our series elected pregnancy termination. Only three pregnancies with DW resulted in a living infant, and only one of these had a normal paediatric examination at six-week follow-up. Thirteen out of 49 infants with DWV survived the neonatal period and 7 of 13 were reported initially as normal infants, including six with an isolated finding of DWV. We conclude that overall, the prognosis for these posterior fossa defects is grim but not uniformly fatal. The presence of other anomalies is associated with the worst prognosis. Isolated Dandy-Walker variant has the highest chance of leading to a normal neonate.

Abortion, Induced↗

Does the 10-MHz transvaginal transducer improve the diagnostic certainty that an intrauterine fluid collection is a true gestational sac?

PURPOSE: We studied whether a 10-MHz transvaginal transducer improves the diagnostic certainty that a small intrauterine fluid collection is a true gestational sac. METHODS: Over a 6-week period, women who presented with a positive pregnancy test and a fluid collection (devoid of any characteristics such as yolk sac or fetal pole) in the uterus seen with a standard 6-7-MHz transvaginal transducer were entered in the study. The patients were immediately rescanned with a 10-MHz transvaginal probe, and characteristics of the fluid collection using this probe were noted. Specifically, the visualization of a yolk sac or the intradecidual or double decidual sign was considered an objective improvement in the certainty that the fluid collection was a gestational sac. RESULTS: Twelve patients presented with a positive pregnancy test and a fluid collection in the uterus seen with a 6-7-MHz probe. Eight of these fluid collections were smaller than 1 cm in mean diameter, and all 8 of these patients had an objective improvement in the diagnosis of an intrauterine pregnancy using the 10-MHz probe. The other 4 patients had fluid collection 1-2 cm in mean diameter seen at 6-7 MHz. The 10-MHz probe improved the diagnostic confidence in 2 of these 4 patients. CONCLUSIONS: In patients with early pregnancies who have questionable gestational sacs on sonography with standard 6-7-MHz transducers, the 10-MHz probe improves the diagnostic confidence of the presence of an intrauterine gestational sac.

Diagnosis, Differential↗

Amnion-chorion separation after 17 weeks' gestation.

OBJECTIVE: To evaluate the cause of and perinatal outcomes of amnion-chorion separation that is apparent sonographically after 17 weeks' gestation. METHODS: We searched our ultrasound database over 7 years for information on pregnant women who had live fetuses and complete separation between amnion and chorion that persisted beyond 17 weeks' gestation. For inclusion in the study, the women had to have amnion separated from chorion on at least three sides of the gestational sac. Medical records were reviewed for whether women had amniocenteses, results of the amniocenteses, and outcomes of the pregnancies. RESULTS: Of 15 pregnant women with live fetuses, ten had amniocenteses before identification of amnion-chorion separation and five did not. Three had fetuses with Down syndrome, two of whom had amnion-chorion separation evident before amniocentesis, and all three had other sonographic findings suggestive of aneuploidy. Three fetuses died. The other pregnancies were complicated by one or more adverse events, including two fetuses with growth restriction, five preterm deliveries, two with oligohydramnios, and one with abruptio placentae. Five infants were delivered at term and are alive and well. Overall, ten of 15 pregnancies resulted in live newborns, one of whom had Down syndrome. CONCLUSION: Complete amnion-chorion separation that persisted after 17 weeks' gestation is associated with a variety of adverse perinatal outcomes, including aneuploidy.

Extraembryonic Membranes↗

Genetic sonogram scoring index: accuracy and clinical utility.

We sought to evaluate the accuracy of the genetic sonogram scoring index in detecting Down syndrome fetuses in a high-risk population. Women referred for genetic sonogram scoring index based on increased risk for aneuploidy were prospectively evaluated. Each fetus was assigned a score based on our previously published genetic sonogram scoring index. A score of 1 or greater was an indication for karyotype determination. Of 1076 patients (1118 fetuses) in the study group, follow-up data were available for 1030 (92%), eight of whom had Down syndrome (prevalence 0.8%). Three fetuses with Down syndrome had a genetic sonogram scoring index of 0, and for one of these the mother was 42 years old. One affected fetus had a score of 1 and the other four had scores of 2 or greater. Using a genetic sonogram scoring index of 1 or greater (age not considered), five of eight fetuses with Down syndrome (62.5%) were identified, as well as 150 of 1030 (14.6%) of normals. Down syndrome was undetected in three fetuses of 1030 (1 in 343) or 0.29%. In addition, when all women 40 years old or older underwent karyotype testing regardless of their sonographic findings, six of eight Down syndrome fetuses were identified (75%), as well as 271 of 1030 (26.3%) of normals. The number of cases of Down syndrome not detected was two in 1030 (1 in 515) or 0.19%. In conclusion, the genetic sonogram scoring index was used to identify approximately 75% of fetuses with Down syndrome, with amniocentesis being recommended in 26.7% of a high-risk population.

Adult↗

Sonographic finding of undescended testes in fetuses at 35-40 weeks: significance and outcome.

PURPOSE: We evaluated the outcome of fetuses with prenatally diagnosed undescended testes at 35 weeks or more of gestation. METHODS: We identified the fetuses in our database in whom undescended testes were identified sonographically in the last month of pregnancy and for whom outcome information could be obtained. Associated sonographic abnormalities were tabulated from the original reports. Outcomes were obtained through reviews of the pediatric medical records and pathology reports. RESULTS: Six fetuses in 5 patients (1 had twins) were identified as having an empty scrotum at 35 weeks or later. In 3 fetuses, this finding was the only prenatal sonographic abnormality. One of these fetuses had isolated undescended testes at birth; the twins were found at birth to be females with congenital adrenal hyperplasia and severe masculinization of the genitals. The other 3 fetuses had other malformations seen prenatally, including omphalocele and macroglossia (Beckwith-Wiedemann syndrome), a left diaphragmatic hernia, and multiple congenital abnormalities. CONCLUSIONS: Although the finding of undescended testes in late gestation may be noted in an otherwise normal fetus, it may also be associated with a potential risk for perinatal problems ranging from severe multiple congenital abnormalities to incorrect sex assignment due to masculinization of female genitalia.

Cryptorchidism↗

The second-trimester fetal iliac angle as a sign of Down's syndrome.

OBJECTIVE: To determine whether the iliac angle of second-trimester fetuses is a useful sonographic marker for the detection of fetuses with Down's syndrome. METHODS: We prospectively measured the iliac angle for all fetuses karyotyped over a 17-month period. A transverse view of the upper fetal pelvis was obtained at the time of amniocentesis and, by means of a protractor, the angle between the two iliac bones was measured. The angles of all those fetuses with Down's syndrome and the first 500 fetuses with normal karyotypes were compared, as was gestational age and maternal age. RESULTS: Nineteen fetuses with Down's syndrome and 1167 fetuses with normal karyotypes underwent genetic amniocentesis over the study period. The mean gestational age of the fetuses with Down's syndrome was 16.6 weeks (+/- 1.9 weeks), and for the controls, 16.1 weeks (+/- 1.4 weeks) (p = 0.3). The mean maternal ages were 34.7 years (+/- 4.8 years) and 35.4 years (+/- 4.1 years) for those pregnancies with Down's syndrome and with normal karyotypes, respectively (p = 0.5). The mean iliac angle was 80.1 degrees (+/- 19.7 degrees) for those fetuses with Down's syndrome, and 63.1 degrees (+/- 20.3 degrees) for those fetuses with normal karyotypes (p = 0.0004). The iliac angle was at least 90 degrees in 36.8% (seven of 19 fetuses) with Down's syndrome and in 12.8% (64 of 500 fetuses) with normal karyotypes (p = 0.003). CONCLUSION: Fetuses with Down's syndrome have a significantly larger iliac angle than fetuses with normal karyotypes. Use of an iliac angle cut-off point of 90 degrees would identify over one-third of second-trimester fetuses with Down's syndrome. However, because of the high false-positive rate (12.8%), the iliac angle is not useful in a high-risk population as a screening test when used in isolation.

Adult↗

Significance of an echogenic intracardiac focus in fetuses at high and low risk for aneuploidy.

Our objective was to evaluate the significance of an echogenic intracardiac focus in a mixed population of fetuses at high and low risk for aneuploidy. Over a 1 year period, we prospectively identified all fetuses with an echogenic intracardiac focus seen during prenatal sonography. A detailed structural evaluation was performed on each fetus as permitted by gestational age. The location and number of foci were tabulated prospectively, as were associated abnormalities. Follow-up was obtained by review of the medical record. Of the 290 fetuses who had an echogenic intracardiac focus, 14 of them were aneuploid (4.8%). Of the 290 mothers, 125 women were aged 35 years or older and 165 women were younger than 35 years old. Among the 125 fetuses born to women 35 years or older, eight were aneuploid fetuses (6.4%), while among the 165 fetuses of younger mothers, six were aneuploid fetuses (3.6%) (rate ratio = 1.8; 95% confidence interval [extremes] = 0.6, 4.9). Only one of the 14 aneuploid fetuses had an echogenic intracardiac focus as the only sonographic finding, and this occurred in a woman aged 41 years. The majority of the echogenic intracardiac foci (87.6%) were located in the left ventricle, while 4.8% of the foci were right-sided and 7.6% were bilateral. Among the 14 aneuploid fetuses, 14% had bilateral echogenic intracardiac foci and 7% had right-sided foci. Among the euploid fetuses, 7.3% had bilateral echogenic intracardiac foci and 4.7% had right-sided foci. In conclusion, we have shown that the presence of an echogenic intracardiac focus does raise the risk that the fetus has a chromosomal abnormality, most commonly Down syndrome, although all but one aneuploid fetus in our study had other sonographic findings.

Adult↗