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Biomedical subjects

S Tercanli

Publications and source records attributed to S Tercanli.

At least 37 records · Page 2Linked to original sources
PubMed2001

Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound.

Increased nuchal translucency between 10 and 14 weeks of gestation has now been established as a marker for chromosomal defects in several large-scale studies. In addition, a growing number of structural defects and some rare genetic syndromes have been identified in association with this marker. We describe a case of a fetus with increased nuchal translucency at 12 weeks of gestation, in which second-trimester evaluation by ultrasound showed an enlarged cisterna magna, a ventricular septal defect and moderate signs of dysmorphia. Karyotyping by chorionic villus sampling revealed a high rate of chromosomal breaks. The diagnosis of Fanconi anemia with early onset was confirmed following the development of severe postnatal anemia 2 months after birth.

Abnormalities, Multiple↗
PubMed2001

Two case reports of rare fetal tumors: an indication for surface rendering?

Fetal tumors are rare and can be difficult to diagnose in utero. This report describes one case of an extrarenal rhabdoid tumor and one case of a giant congenital melanocytic nevus. Both presented with moderate polyhydramnios and were prenatally detected at 31 weeks of gestation with two-dimensional ultrasound. The application of the surface mode of three-dimensional ultrasound improved the visualization of these tumors especially for the parents and the multidisciplinary team. Three-dimensional sonography proved to be a valuable addition to the prenatal armamentarium for the evaluation of these fetal tumors although it is not mandatory for their assessment and clinical management.

Adult↗
PubMed2001

[Use of 3-dimensional ultrasound for assessment of intrauterine device position].

AIM OF THE STUDY: The purpose of our prospective study was to assess the accuracy of measuring and visualizing different types of IUDs with three dimensional ultrasound (3D) and two dimensional ultrasound (2D). METHODS: Ultrasound investigation was carried out in 147 patients 6 weeks after insertion of the IUD; in 127 cases a copper IUD was inserted, in 20 cases a Levonorgestrel-containing (LNG) IUD. Correct measurement was defined as the distance between top of the IUD and inner endometrium as well as IUD and myometrium (fundus) in the longitudinal plane (2D) plus the frontal plane (3D). The possibility to visualize the complete IUD was evaluated in the frontal plane and in the transparent mode after volume rendering. RESULTS: The distance measurement between copper IUD and myometrium or endometrium with 2D and 3D did not differ significantly (19.54 mm +/- 6.13 vs. 19.48 +/- 6.39, 5.58 +/- 4.57 vs. 5.21 +/- 4.57). There was no difference in the distance between LNG IUD and myometrium between the two ultrasound investigations (17.75 +/- 3.70 vs. 16.80 +/- 4.65), whereas the distance between LNG IUD and endometrium was significantly different (5.00 +/- 2.81 vs. 4.30 +/- 3.06, p = 0.03). The imaging of the LNG IUD was very clear with the 3D facilities, especially in the transparent mode. Furthermore, congenital anomalies of the uterus, like an arcuate uterus, were clearly detectable in the frontal plane (3D). CONCLUSION: Distance measurement can be obtained equal as well by 2D or 3D ultrasound. The 3D ultrasound offers the advantage of better visualization of LNG IUD and the assessment of anomalies of the uterine cavity.

Adolescent↗
PubMed2000

Prenatal diagnosis of a partial trisomy 19q.

Phenotypic anomalies due to a genetic imbalance of chromosome 19 have been reported in very rare postnatal cases. Here a case of partial trisomy 19 diagnosed prenatally by ultrasonography and cytogenetic analysis is presented. Detailed evaluation by sonography showed major anomalies which could be correlated to the typical appearance of this chromosomal anomaly. Termination of pregnancy at 21 weeks of gestation was performed, and the prenatal diagnosis was confirmed postnatally by autopsy. The syndrome in this case was caused by a duplication of the long arm of chromosome 19 (46,XY, dup(19) (q13.1-->qter).

Adult↗
PubMed2000

Complications of lost needle after suture of vaginal tear following delivery.

We present a case of a lost broken needle during repair of a vaginal tear following delivery. The woman was not informed at that time. Only twenty years later a pelvic X-ray visualised the fragment by chance. From that day on she complained about lower abdominal chronic pain and insisted on a hysterectomy. The case considers moving of foreign bodies and as a cause of chronic pain and relates to open information even 20 years later.

Adult↗
PubMed2000

Transabdominal first trimester embryofetoscopy as a potential approach to early in utero stem cell transplantation and gene therapy.

OBJECTIVE: To explore the potential of embryofetoscopy for early diagnosis and for access to the fetal circulation in the first trimester of gestation. DESIGN: Transabdominal embryofetoscopy was performed in 14 patients scheduled for termination of pregnancy using a 1-mm semirigid fibreoptic telescope with a 18 gauge examination sheath and a single-chip digital camera. A 25 gauge needle was inserted through an additional 21 gauge side port to access the fetal circulation. RESULTS: Fetal head, face, abdomen, complete upper and lower limbs could be visualized in over 80% of cases. On the contrary, the fetal back and external genitalia could be examined in detail only in some cases (35.7% and 64.3%, respectively). Injection of 10-20 ml saline improved visibility in 43% of cases. Funipuncture was successful in two of three attempts. CONCLUSIONS: Our experience suggests that embryofetoscopy is a useful tool for early diagnosis in the first trimester of pregnancy. Funipuncture is possible thus providing the means for an early intravascular stem cell application.

Adult↗
PubMed2000

Differentiation and management of endometrium abnormalities and leiomyomas by hydrosonography.

Transvaginal sonography is an established method for numerous clinical indications in the assessment of endometrium pathology. The investigation of the endometrium consists of the measurement of the thickness, the visualization of the echogenity and echotexture and of the demonstration of focal masses. However, evaluation of the uterine cavity by transvaginal sonography is limited and an abnormal ultrasound of the endometrium may reflect benign or malignant conditions. Furthermore, small structures can be missed or overlooked. If indicated, hydrosonography offers various advantages compared to dilatation and curettage and hysteroscopy in terms of costs, availability and risks. Additional informations obtained after hydrosonography may influence the management before consideration of curettage or hysteroscopy.

Antineoplastic Agents, Hormonal↗
PubMed1999

Three dimensional volume measurement of the cervix during pregnancy compared to conventional 2D-sonography.

OBJECTIVE: To compare the three dimensional (3D) volume assessment of the cervix with the conventional two-dimensional cervical length measurement in a low and a high risk group for cervical incompetence. METHODS: In an observational study, we investigated a group A of low risk pregnancies (no preterm contractions, no vaginal bleeding or vaginal infections and no history of preterm delivery) and a group B of high risk pregnancies (preterm contractions or PROM). All patients underwent a transvaginal ultrasound investigation with a 7.5 MHz probe using a three-dimensional ultrasound system (Combison 530, Kretztechnik, Austria). After measuring the cervical length, the internal os and the funneling with the B-mode, 3D-volume was recorded twice by the same investigator using the same machine. Since 2D-length measurement of the cervix has been established to be predictive for spontaneous preterm delivery, we wanted to test whether 3D-volume assessment has a better discriminative power to differentiate a high-risk from a low-risk group. Therefore the 2D and 3D measurements (mm, resp. cm3) were compared between patient groups A and B using the two tailed Student t-test and Fisher's Exact test. RESULTS: In 2D cervical length measurement the mean cervical length in group A was significantly longer than in group B: 41.1 +/- 8.61 mm and 27.77 +/- 10.42 mm, P = 0.00000017. In 3D-sonography the mean cervical volume was larger in group A, but the difference compared to group B was not significant: 47.71 +/- 18.38 mm and 39.90 +/- 12.57 mm, P = 0.07. CONCLUSION: Contrary to our hypothesis cervical length measurement therefore was superior to cervical volume measurement assessed by 3D ultrasound for identifying women with increased risk of spontaneous preterm delivery. This may be due to the larger distribution of measurement values in the 3D group.

Adult↗
PubMed1999

Approximately half of the erythroblasts in maternal blood are of fetal origin.

The enrichment of fetal erythroblasts from the peripheral blood of pregnant women is currently actively pursued for the development of a non-invasive means of prenatal diagnosis. Since erythroblasts in maternal blood are not all of fetal origin, and currently no reliable method exists to distinguish between the maternal and fetal erythroblasts, their use for prenatal diagnosis is not without uncertainty. The purpose of this study was to determine the percentage of fetal erythroblasts in maternal blood at the single cell level and to what extent such cells can reproducibly be used for polymerase chain reaction (PCR)-based prenatal diagnostic analyses. Erythroblasts were enriched from the peripheral blood of rhesus negative pregnant women using magnetic cell sorting (MACS). Single erythroblasts identified morphologically were individually micromanipulated and analysed by a multiplex PCR reaction for the fetal SRY and rhesus D genes. As a control for the PCR reaction the beta-globin gene was used. The PCR results were validated by the results obtained by invasive procedures. In all instances where single erythroblasts were examined, the correct fetal genotype for the two fetal specific loci was detected. Furthermore, our results indicate that approximately 50% of the enriched erythroblasts are of fetal origin.

DNA-Binding Proteins↗
PubMed1998

In vitro volume measurement by three-dimensional ultrasound: comparison of two different systems.

The aim of this study was to compare volumetric capabilities in vitro between two different three-dimensional technical modalities with a transvaginal transducer. We intended to evaluate the effect of different sizes and shapes on the accuracy of the measurements, and to establish criteria for choosing the appropriate system for three-dimensional volume measurement. We did not find significant differences between the two systems, either in the results or in their operation. We confirmed the high accuracy of three-dimensional volume measurements in vitro.

Analysis of Variance↗
PubMed1997

Cystic hygroma as an early first-trimester ultrasound marker for recurrent Fryns' syndrome.

We present a case of a fetus who at a 12-week ultrasound examination was shown to have a large cystic hygroma. Fryns' syndrome was suspected because the mother's previous pregnancy had been affected by the condition. Pathological examination confirmed the diagnosis at this early stage of gestation. In families with increased risk for Fryns' syndrome, first-trimester ultrasound screening should be offered to exclude cystic hygroma as an ultrasound marker for this most often lethal malformation.

Abnormalities, Multiple↗
PubMed1997

Prenatal diagnosis of a highly undifferentiated brain tumour--a case report and review of the literature.

Intracranial tumours, often presenting with progressive hydrocephalus, are rare congenital diseases accounting for 0.5-1.5 per cent of all cases of brain tumours diagnosed during childhood. The differential diagnosis includes vascular malformations, infarctions, and haemorrhages. Sonographic signs suggestive of glioblastoma, teratoma, and astrocytoma do not establish the histological diagnosis, however. We report a case of an undifferentiated fetal glioma detected at 29 weeks' gestation. The diagnosis of an undifferentiated brain tumour was suspected by sonography because of the lack of normal brain structures in conjunction with a diffuse echogenic central lesion and an external hydrocephalus. Because of the very poor prognosis, we induced labour by intravaginal and intravenous administration of prostaglandin E2 and achieved the vaginal delivery of a stillborn child whose head circumference corresponded to 38 weeks of pregnancy. Histological and immunochemical features of this undifferentiated congenital glioma (glioblastoma) are presented.

Adult↗
PubMed1996

[Ultrasound endometrium diagnosis].

Ultrasound has been gaining significance in the recent past as diagnostic tool not only in obstetrics but also in general gynecology. Improvements of image resolution by transvaginal sonography [TVS] allow the investigation of even delicate anatomical structures such as the endometrium. Various diagnostic criteria including thickness of endometrium, internal structure and myometrial involvement help to identify endometrial abnormality. The benefits of new technologies such as colour Doppler and 3D sonography are currently being assessed. In the postmenopausal patient without hormonal substitution endometrial carcinoma may be diagnosed by measuring endometrial thickness alone. In women with postmenopausal bleeding endometrial atrophy as the must common cause has been differentiated from endometrial cancer with a high success rate. Considering that more than 70% of diagnostic currettages reveal benign sonography may significantly reduce the number of these procedures. In patients with hormonal replacement therapy the measurement of endometrial thickness is not reliable because the endometrium is subject to cyclical changes. Advantageous in this situation is the examination of the endo/myometrial borderline. The potential of sonography in reducing the number of currettages has to be assessed in larger scale prospective studies. Therefore a general screening for endometrial carcinoma is not advocated for the time being and should be restricted to high risk patients.

Adolescent↗
PubMed1995

Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatally.

The parental origin of the additional chromosome complement in a total of 17 cases of triploidy was determined mainly using highly polymorphic microsatellites. Maternal origin of the triploidy was demonstrated in most cases. To the best of our knowledge, this is the first systematic evaluation of the parental origin of chromosome sets in fetuses who survived until a cytogenetic diagnosis was established. In contrast to previous investigations this study documented a predominance of maternal origin of the extra haploid set mainly due to longer survival time for digynic triploidies. The concept of 2 distinct fetal phenotypes in triploidy is clearly supported by this study.

Adult↗
PubMed1995

Direct fetal administration of adenosine for the termination of incessant supraventricular tachycardia.

BACKGROUND: Adenosine terminates supraventricular reentry tachycardia safely and effectively in the pediatric age group. CASE: The recurrence of pretreated incessant tachycardia led to severe hydrops in a 28-week-old fetus. The tachycardia was terminated instantly with direct fetal administration of adenosine via the umbilical vein. Normal heart rate and rhythm were then preserved temporarily with digoxin and flecainide. CONCLUSION: Direct fetal adenosine administration might be helpful in the treatment of fetal reentry tachycardias if the sinus rhythm achieved quickly can be preserved by long-acting antiarrhythmic drugs. Such a combined therapeutic approach might be especially advantageous in hydropic fetuses.

Adenosine↗
PubMed1995

Prenatal sonographic diagnosis of a vein of Galen aneurysm: relevance of associated malformations for timing and mode of delivery.

The term 'aneurysm of the vein of Galen' encompasses a range of different midline arteriovenous fistula malformations. Prenatal real-time and Doppler sonography can contribute to the differential diagnosis of fetal cerebral cystic lesions of various origins, pineal and choroid tumors, and intracerebral hematoma. Regardless of the type of treatment, perinatal morbidity and mortality are high, often due to cardiac failure. A case of spontaneous delivery at 36 weeks of gestation by a 30-year-old woman presenting with a fetal aneurysm of the vein of Galen is described. As the extrauterine cardiac function was normal and a steal phenomenon was not present, expectant management was justified. Five arterial embolizations within the following 4 years were performed as a means of treating the primary lesion. Our case illustrates the fact that elective spontaneous vaginal delivery followed by serial embolization is possible in cases of arteriovenous fistula malformation without signs of cardiac insufficiency.

Adult↗