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Biomedical subjects

B R Benacerraf

Publications and source records attributed to B R Benacerraf.

At least 19 recordsLinked to original sources
PubMed2006

Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome.

We present a case of Fryns' syndrome diagnosed prenatally using three-dimensional (3D) ultrasonography and magnetic resonance imaging (MRI). A cleft of the soft palate was diagnosed using 3D thick-slice ultrasonography. Other sonographic findings included a right diaphragmatic hernia, enlarged echogenic kidneys and severe polyhydramnios. The detection of the cleft palate was instrumental in suggesting the diagnosis of Fryns' syndrome in a fetus which also had a diaphragmatic hernia. These findings were also demonstrated with prenatal MRI. The technique of imaging the soft palate en face using a thick-slice technique is presented.

Abnormalities, Multiple↗
PubMed2001

Evaluation of the woman with postmenopausal bleeding: Society of Radiologists in Ultrasound-Sponsored Consensus Conference statement.

OBJECTIVES: A panel of 14 physicians practicing medicine in the United States with expertise in radiology, obstetrics and gynecology, gynecologic oncology, hysteroscopy, epidemiology, and pathology was convened by the Society of Radiologists in Ultrasound to discuss the role of sonography in women with postmenopausal bleeding. Broad objectives of this conference were (1) to advance understanding of the utility of different diagnostic techniques for evaluating the endometrium in women with postmenopausal bleeding; (2) to formulate useful and practical guidelines for evaluation of women with postmenopausal bleeding, specifically as it relates to the use of sonography; and (3) to offer suggestions for future research projects. SETTING: October 24 and 25, 2000, Washington, DC, preceding the annual Society of Radiologists in Ultrasound Advances in Sonography conference. PROCEDURE: Specific questions to the panel included the following: (1) What are the relative effectiveness and cost-effectiveness of using transvaginal sonography versus office (nondirected) endometrial biopsy as the initial examination for a woman with postmenopausal bleeding? (2) What are the sonographic standards for evaluating a woman with postmenopausal bleeding? (3) What are the abnormal sonographic findings in a woman with postmenopausal bleeding? (4) When should saline infusion sonohysterography or hysteroscopy be used in the evaluation of postmenopausal bleeding? (5) Should the diagnostic approach be modified for patients taking hormone replacement medications, tamoxifen, or other selective estrogen receptor modulators? CONCLUSIONS: Consensus recommendations were used to create an algorithm for evaluating women with postmenopausal bleeding. All panelists agreed that because postmenopausal bleeding is the most common presenting symptom of endometrial cancer, when postmenopausal bleeding occurs, clinical evaluation is indicated. The panelists also agreed that either transvaginal sonography or endometrial biopsy could be used safely and effectively as the first diagnostic step. Whether sonography or endometrial biopsy is used initially depends on the physician's assessment of patient risk, the nature of the physician's practice, the availability of high-quality sonography, and patient preference. Similar sensitivities for detecting endometrial carcinoma are reported for transvaginal sonography when an endometrial thickness of greater than 5 mm is considered abnormal and for endometrial biopsy when "sufficient" tissue is obtained. Currently, with respect to mortality, morbidity, and quality-of-life end points, there are insufficient data to comment as to which approach is more effective. The conference concluded by identifying several important unanswered questions and suggestions that could be addressed by future research projects.

Algorithms↗
PubMed2000

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↗
PubMed2000

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↗
PubMed1999

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↗
PubMed1999

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↗
PubMed1999

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↗
PubMed1998

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↗
PubMed1998

The significance of prenatally identified isolated clubfoot: is amniocentesis indicated?

OBJECTIVE: Our purpose was to determine the significance of finding an isolated clubfoot on a prenatal sonogram. STUDY DESIGN: All fetuses found to have an isolated congenital clubfoot over a 9-year period were retrospectively identified. Fetuses with associated anomalies were excluded. Review of medical records for obstetric and neonatal outcome and pathologic and cytogenic results were tabulated. RESULTS: Eighty-seven fetuses were identified from our database as having isolated clubfoot on prenatal ultrasonography, with complete follow-up available for 68 fetuses. Sixty of the 68 fetuses were confirmed as having clubfoot after delivery (false-positive rate = 11.8%). The male/female ratio was 2:1. Four fetuses (5.9%) had abnormal karyotypes: 47,XXY, 47,XXX, trisomy 18, and trisomy 21. Nine fetuses had hip or other limb abnormalities noted after birth. Other anomalies not detected until delivery included a unilateral undescended testis, ventriculoseptal defects (n = 2), hypospadias (n = 2), early renal dysplasia, mild posterior urethral valves, and a two-vessel cord. Five of the 68 patients (including those with aneuploidy) had pregnancy terminations. Eleven patients were delivered preterm. CONCLUSION: Karyotypic evaluation is recommended when isolated clubfoot is identified on prenatal sonogram because other subtle associated malformations may not be detected ultrasonographically in the early second trimester.

Abnormalities, Multiple↗
PubMed1998

Intra-abdominal sacrococcygeal mature teratoma or fetus in fetu in a third-trimester fetus.

This case report describes a fetus with a large intra-abdominal, complex, vascular mass, displacing the normal intra-abdominal organs due to its large size. Extension to the presacral area was also identified, facilitating the diagnosis of a sacrococcygeal teratoma. Because of its highly mature nature, this was considered a fetus in fetu which was totally intra-abdominal.

Abdominal Neoplasms↗