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Biomedical subjects

R J Benzie

Publications and source records attributed to R J Benzie.

At least 37 records · Page 2Linked to original sources

Genetic amniocentesis in seventy twin pregnancies.

Genetic amniocenteses were performed in 70 twin pregnancies over an 11-year period. Both sacs were successfully sampled in 49 of 62 patients (79%). The success rate was decreased (68%) with two placentas (anterior and posterior) and was improved with gestational age greater than or equal to 17 weeks (88%) and with ultrasound visualization of the septum (86%). Of three spontaneous abortions, two were attributed to amniocentesis (chorioamnionitis). When twin pregnancy is diagnosed in a patient with an indication for genetic amniocentesis, a careful reevaluation and discussion of risk factors with the couple are recommended.

Adult↗

Fetoscopy in prenatal diagnosis of the Majewski and the Saldino-Noonan types of the Short Rib-Polydactyly syndromes.

Fetoscopy was performed in three pregnancies at risk for the Majewski syndrome and in one pregnancy at risk for the Saldino-Noonan syndrome of the fetus. One case of Majewski syndrome and two normal fetuses were correctly diagnosed. In the remaining case the amniotic fluid was blood-stained and the fetus could not be visualized. Patients previously carrying a fetus with a Short Rib-Polydactyly syndrome of the Majewski or Saldino-Noonan types are at a high risk of recurrence (25%) and should be offered prenatal diagnosis in subsequent pregnancies. Polydactyly is consistently present in these syndromes, and is easily seen through the fetoscope. Fetoscopy offers a safe and instant diagnosis as early as 15-16 weeks of gestation.

Adult↗

Fetal cephalometry by ultrasound as a screening procedure for the prenatal detection of Down's syndrome.

Infants and children with Down's syndrome have a cephalic index (ratio of biparietal to occipitofrontal diameter) higher than that in normal children. To determine whether this difference is present and detectable by ultrasound measurement of the second-trimester fetal head, we calculated the cephalic indices for 308 normal fetuses and eight fetuses with a 47, +21 karyotype. The mean cephalic index in the fetuses with Down's syndrome (0.829, SD 0.033) was indistinguishable from that in the normal fetuses (0.825, SD 0.042). These data suggest that the documented difference in mean cephalic index between liveborn children with Down's syndrome and normal control children is not detectable in the mid-gestation fetus and that ultrasound cephalometry alone is unlikely to discriminate reliably between normal and affected fetuses.

Adult↗

Alpha-fetoprotein and ultrasound scanning in the prenatal diagnosis of Turner's syndrome.

Based on data from 5 cases of fetal cystic hygroma (4 cases of Turner's Syndrome and one case of Trisomy 18) and one case of Down's Syndrome with severe subcutaneous oedema, it is concluded that amniotic fluid alpha-fetoprotein (AFP) is normal or only slightly elevated in such cases whereas AFP in fluid from the cystic structures is very high. Reported high values of 'amniotic fluid' AFP are therefore likely to have been obtained from fluids accidentally drawn from the cystic structures. Fluids from the two sources cannot be distinguished from each other visually. In support of this theory is that the maternal serum AFP was found to be normal in all cases where investigated. In the diagnosis of cystic hygromata detailed ultrasound scanning will reveal the correct diagnosis.

Adult↗

Fetoscopy.

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Biopsy↗

Hypertonic saline as an abortifacient in a select group of patients.

The clinical course of 40 patients with a uterine scar who were undergoing second-trimester abortion induced with either hypertonic saline or prostaglandin F2 alpha, was reviewed. In the 38 patients with a previous cesarean scar, and in the 2 patients with a hysterotomy scar, the uterine contents were evacuated with no evidence of uterine rupture. A review of the literature dealing with uterine rupture subsequent to induced midtrimester abortion revealed that the typical multiparous uterus was more prone to rupture if oxytocin was used in conjunction with or a few hours after instillation of the abortifacient, or if oxytocin was used continuously for more than 12 hours. Although rupture after use of prostaglandin in a previously scarred uterus has been reported, there is no case reported of rupture after use of hypertonic saline. This review and the authors' experience lead them to conclude that hypertonic saline is a safe abortifacient during the second trimester, especially between 18 and 22 weeks' gestation, in a previously scarred uterus when careful monitoring is employed and oxytocic agents are used judiciously.

Abortifacient Agents↗

Ultrasound and amniotic fluid alpha-fetoprotein in the prenatal diagnosis of spina bifida.

Amniotic fluid alpha-fetoprotein (AFP) assays and detailed ultrasound examinations were performed in 376 prenatal patients at risk for a neural tube defect (high-risk group). In addition, 2436 patients who underwent amniocentesis for other indications underwent preamniocentesis ultrasound screening and amniotic fluid AFP assays (low-risk group). There were 10 neural tube defects in the high-risk group (7 open and 3 closed) and 3 in the low-risk group (all open). Two of the 3 closed defects were detected prenatally. The predictive value of an elevated AFP level for an abnormal fetus was much higher in the high-risk (6 of 6, 100%) than in the low-risk group (1 of 6, 17%). When both ultrasound and AFP assay results were normal, the chance of a normal outcome was very high in both the high- and low-risk groups (99.7 and 100%, respectively). It was of particular interest that in the low-risk group, the likelihood of an abnormal outcome in women with elevated AFP and a normal ultrasonogram was low (0 of 5).

Amniocentesis↗

Antenatal genetic diagnosis: current status and future prospects.

The current status of antenatal genetic diagnosis is reviewed and the limitations of present techniques are discussed. It is suggested that multidisciplinary clinics are the most efficient means of providing this aspect of health care. Advances in cell culture techniques, in ultrasonography and in fetoscopy will extend the services available, and the impact of this will be felt by the community. Education of the medical profession and the public in this area is necessary so that informed decision-making can take place.

Abortion, Therapeutic↗

Natural history of placenta previa ascertained by diagnostic ultrasound.

Placental localization by diagnostic ultrasound was performed at 16 to 18 weeks' gestation in 1,098 patients prior to amniocentesis for genetic indications. Placenta previa was diagnosed in 58 patients, 47 of whom went on to delivery uncomplicated by placenta previa. There were five patients with placenta previa at delivery, four of whom had third-trimester bleeding. One patient was diagnosed as having a normal placental implantation at midtrimester but placenta previa was demonstrated at delivery. The incidence of placenta previa at 16 to 18 weeks' was 5.3% and fell to 0.58% at delivery, indicating a 90% conversion rate. Thus the vast majority of cases of asymptomatic placenta previa remain so and convert before delivery. These patients should be observed with serial ultrasound at 6 to 8 week intervals until delivery or unequivocal conversion. No restriction in activity seems indicated unless the placenta previa persists beyond 30 weeks or becomes clinically manifest.

Adult↗

Amniotic fluid lecithin/sphingomyelin ratio, palmitic acid, palmitic acid/stearic acid ratio, total cortisol, creatinine, and percentage of lipid-positive cells in assessment of fetal maturity and fetal pulmonary maturity: a comparison.

Lecithin/sphingomyelin (L/S) ratio, creatinine, percentage of lipid-positive cells, palmitic acid, palmitic acid/stearic acid (P/S) ratio, and total cortisol were analyzed as tests for fetal maturity and fetal pulmonary maturity in 164 samples of amniotic fluid from 121 patients. Fifty samples were taken within 72 hours of delivery. The best tests for fetal maturity (37 weeks) with differential percentages were L/S ratio, palmitic acid, and P/S ratio. In the assessment of fetal pulmonary maturity, we studied an additional 174 samples in which only L/S ratio, creatinine, and lipid-positive cells were analyzed. All tests showed a high predictive value of an immature (positive) result was much less for all six parameters; the three best tests were total cortisol (33%), lipid-positive cells (26%) and L/S ratio (14%).

Amniotic Fluid↗

Ultrasonic assessment of the fetal spine before 20 weeks' gestation.

The ultrasonic appearance of the normal and abnormal fetal spine before 20 weeks' gestation was reviewed in 121 pregnances. A model was constructed to establish the mechanism of production in the various configurations seen. The relative roles of ultrasonography, alpha fetoprotein assay, and fetoscopy in the diagnosis of spina bifida are discussed.

Female↗

Fetoscopy.

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Adult↗