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E Beinder

Publications and source records attributed to E Beinder.

49 records · Page 3Linked to original sources

[Ultrasound detection of suspected chromosome abnormalities in the 1st and 2nd trimester. Results of a prospective study].

4053 pregnancies were studied prospectively during 4 years (July 1988 to June 1992) with regard to the sonographical recognition of indications of chromosomal anomalies from 9 to 24 weeks, irrespective of the mother's age. The morphology of the fetal organs, the phenotype, the proportions of the fetal body, biometrical data and disorders of the placenta and the amniotic fluid were scrutinised. For the prediction of a chromosomal anomaly, a high sensitivity of 86.3% and specificity of 99.8% were found; the prevalence was 1.8%. The thickening of the nuchal fold or a nuchal oedema was the most significant fetal stigma and a guiding symptom in Turner's syndrome and in trisomy 21 and 18. When suspicious facts were found during ultrasonography, karyotyping was proposed after detailed counselling, especially to mothers below the age of 35. The extended sonographical examination is considered a non-invasive tool to differentiate the statistical age related risk of a chromosomal anomaly in each individual case.

Adolescent↗

Control of skin blood flow in pre- and full-term infants.

The response of skin blood flow to local ischemia, heating and cooling was investigated at different intervals after birth in 10 healthy full-term babies and 10 preterm postincubator infants using 2 noninvasive and locally neutral methods of microcirculatory measurement: laser Doppler flowmetry and cutaneous oxygen partial pressure (cPO2) estimation with a probe temperature of 37 degrees C. Both groups of infants were capable of myogenic and neural control of skin blood flow. Higher cPO2 values under basal conditions and during reactive hyperemia suggest a raised nutritive capillary blood flow in the preterm group. The increase in cutaneous blood flow during local warming and reactive hyperemia shows that even in neonates on the first day of life no maximal skin vasodilatation is present. An increase in the periodic flow waves attributed to arteriolar vasomotion in 19- to 22-day-old infants, compared to the preterm group and younger babies, indicates that myogenic activity in skin arterioles increases with advancing age.

Blood Flow Velocity↗

Rapid karyotyping in prenatal diagnosis: a comparative study of the 'pipette method' and the 'in situ' technique for chromosome harvesting.

Rapid karyotyping in the second and third trimesters has important implications for the management of pregnancies at risk. From September 1985 to March 1992, 735 amniotic fluid samples sent to our laboratory for rapid karyotyping from 64 different diagnostic centres of the Federal Republic of Germany were included in a comparative study on harvesting for chromosome analysis using the 'pipette method' or the 'in situ' technique. The average time between preparation of the amniotic fluid and verbal notification of the analysed karyotype was 5.41 days. The 'pipette method' needed on average 4.65 days, and the 'in situ' technique 5.97 days. In comparison with other more invasive techniques available for rapid karyotyping such as cordocentesis and placental biopsy, amniocentesis and subsequent chromosome harvesting using the 'pipette method' and/or the 'in situ' technique proved very useful and efficient. The overall incidence of chromosome aberrations was 15.3 per cent. The high rate of structural chromosome aberrations and uncommon aneuploidies found in our investigation (12 per cent) indicates that for rapid karyotyping in the second and third trimesters, conventional cytogenetic techniques cannot be replaced by faster techniques based on fluorescent in situ hybridization on interphase cells in the near future.

Amniotic Fluid↗

Laser Doppler technique for the measurement of digital and segmental systolic blood pressure.

A technique is described for measuring digital and segmental systolic blood pressure by laser Doppler fluxmetry. A transparent plastic capsule contains the small sphygmomanometer cuff connected to a Statham manometer. It has a hole for positioning the probe at the very tips of fingers or toes. An advantage of this method over the conventional strain-gauge technique is that it is better suited for determinations at short digits where it is difficult to fix a strain-gauge. Moreover, it allows consecutive pressure and flux measurements at almost identical distal sites without moving the probe. The correlation between the values obtained by the conventional and laser Doppler procedures are excellent. Systolic pressures were determined on 14 extremities of 7 healthy controls and on 20 extremities of 14 patients with intermittent claudication due to peripheral arterial occlusive disease. Measuring sites were the upper arm, forearm, index finger, ankle and big toe. The values agree well with those obtained earlier by the strain-gauge technique.

Aged↗

Peripheral skin temperature and microcirculatory reactivity during pregnancy. A study with thermography.

The aim of the study was to compare gradients of skin surface temperature on the arm and hand and to evaluate differences in the skin microcirculation reactivity between pregnant and non-pregnant women. We used the prototype of a highly sensitive thermograph system for the measurements. Eight healthy, non-pregnant women (mean age 27.9 years) and eleven pregnant women in the 14th-40th gestational week with normal pregnancies (mean age 28.7 years) were examined. Compared with the control collective, there were the following differences found in the pregnant group: --Skin temperature (ST) difference from the hand to the forearm was 2.6 +/- 0.8 degrees C instead of 0.6 +/- 1.2 degrees C (p less than or equal to 0.01). --There was a higher ST in the hand (p less than or equal to 0.01), but not in the proximal forearm. --An increase of the ST in the hand and the occurrence of a temperature difference compared with the forearm could be seen even in the early stages of pregnancy. --The skin temperature decrease was less marked in pregnant than in non-pregnant women after application of a cold stimulus (p less than or equal to 0.01) and after venous occlusion (not significant). The results obtained by telethermography indicate that during pregnancy there is a greater increase in the arteriovenous shunt blood flow (represented especially in the skin of the acral regions) than in capillary perfusion (represented mainly in the skin of the trunk and proximal extremities).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

[Diagnosis of aneuploidy with fluorescence in situ hybridization (FISH); value in pregnancies with increased risk for chromosome aberrations].

BACKGROUND: In the case of abnormal ultrasound findings, abnormal serum-screening and age-risk in advanced pregnancy a rapid diagnosis or exclusion of a chromosomal aneuploidy of the fetus is of great value for the clinical management. With fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells the detection of the most common aneuploidies, which account for about 2/3 of all chromosomal aberrations [1], is possible within 24 hours. The aim was to evaluate if the FISH-technique in combination with karyotyping after cell culturing could replace other methods like diagnostics form umbilical cord blood or placental biopsies. MATERIALS AND METHODS: For the FISH assays commercially available directly with fluorochromes labelled DNA-probes (Vysis, Stuttgart) were used. FISH assays were performed on amniotic fluid samples from pregnancies at risk for fetal chromosome aberrations parallel to standard cytogenetic analysis. The method was performed on 230 samples of amniotic fluid. We tried to optimize the method concerning preparation of the cell material, the denaturation- and hybridization-steps and well as stringency of post-hybridization washes. RESULTS: All trisomies 13, 18, 21 and the sex chromosome aneuploidies (n = 34) which were diagnosed by conventional cytogenetics were identified correctly by FISH analysis with the exception of one case of trisomy 21 mosaicism, in which hybridization failed. As structural chromosome aberrations and mosaicisms cannot be detected with this method, six additional chromosome aberrations were identified exclusively by cytogenetic analysis. The mean frequency of nuclei with abnormal signal pattern in the aneuploid cases was 89%. A minimum of 50 nuclei for each DNA-probe could be counted in 86% of the samples. The results of 12 cases were classified as uninformative, because only less than 15 hybridized nuclei or no hybridization signals could be scored. Maternal contamination was found in 17.4% of the samples. CONCLUSIONS: In clinical cases with a high risk for an abnormal fetal karyotype and the need of quick clinical consequences, methods which make possible a karyotyping within shortest time should be preferred to amniocentesis and FISH-analysis, because Chromosomal mosaicism and structural aberrations, which represent up to 20% of all chromosomal abnormalities in this group, cannot be detected, uninformative cases can occur in up to 15% of all investigated samples and There is a risk for false-negative results through contamination of the sample with cells of maternal origin. In comparison with methods which permit rapid karyotyping from umbilical cord blood or placental biopsies, a delay in the diagnostic procedure has to be accepted, when the result of the FISH-analysis has to be confirmed by cell culturing and standard cytogenetic analysis.

Amniocentesis↗

Intrauterine treatment of fetal goitrous hypothyroidism controlled by determination of thyroid-stimulating hormone in fetal serum. A case report and review of the literature.

We report a rare case of fetal goitrous hypothyroidism complicated by polyhydramnios and preterm labor in a mother without thyroid gland pathology. The diagnosis was made in the 26th week by ultrasound and cordocentesis [TSH 170 microU/ml, free T(4) 0.2 ng/dl]. The therapeutic regime required repeated fetal blood sampling for determination of thyroid hormones. Five intra-amniotic administrations of 250 microg levothyroxine (LT4) weekly were initiated. Because of the persisting goiter and the elevated level of TSH (128 microU/ml in 32 weeks) in the fetal serum the dosage had to be adjusted to 500 microg LT4 in the next five injections. TSH in fetal serum declined to 49.2 microU/ml in 36 weeks. Normal fetal growth and an uncomplicated course of pregnancy between the 27th and 37th week of gestation were observed. Monitoring of intrauterine therapy by determination of TSH in fetal serum may provide more reliable data than measuring TSH in amniotic fluid. A review of 15 cases of fetal goitrous hypothyroidism in the English literature is presented.

Adult↗

[Rate of prenatal detection of congenital right heart defects].

Congenital right heart lesions (including tetralogy of Fallot, pulmonary valve stenosis, pulmonary atresia with intact ventricular septum, Ebstein's anomaly and dysplastic tricuspid valve) account for about 19% of congenital cardiac anomalies. We performed a retrospective study in order to assess the percentage of patients with significant right heart lesions (requiring therapy in the first year of life), which is detected prenatally and referred to a centre for perinatal treatment. From 1/1990 until 12/1997 congenital right heart lesions were diagnosed in 21 fetuses and 190 infants (211 patients. The majority of patients had tetralogy of Fallot (64%), less frequently we found critical pulmonary valve stenosis (9%), pulmonary atresia with intact ventricular septum (9%), tricuspid atresia (14%) and Ebstein's anomaly or dysplastic tricuspid valve (4%). Prenatally the cardiac anomaly was diagnosed in all 21 cases who were referred to our center (10%). The highest referral and detection rate was found among fetuses with Ebstein's anomaly or dysplastic tricuspid valve (5/8 patients = 63%) followed by fetuses with pulmonary atresia and intact ventricular septum (5/20 = 25%), critical pulmonary stenosis (4/18 = 22%) or tricuspid atresia (4/29 = 14%). The prenatal referral rate was disappointing in children with tetralogy of Fallot (3/136 = 2.2%). A higher prenatal detection rate of congenital right heart lesions can be achieved only by an improvement of prenatal screening including the 4-chamber view and the origin of the great arteries. A first step would be the inclusion of the fetal 4-chamber view into the routine examination during the 18th-20th week of pregnancy (stage 1 of a multistage concept of prenatal screening) and by assessment of the outflow tracts and the great arteries in pregnancies associated with risk factors or anomalies of the fetus (stage 2 and 3 of a multistage concept).

Echocardiography↗

[Screening for fetal heart defects in the four chamber view with evaluation of larger arteries: possibilities and limits].

The four-chamber view and the visualization of the root of the left and right ventricular outflow tracts has been proposed as a screening method for the detection of congenital heart disease in the fetus. In order to study the diagnostical value of the method we investigated 1600 fetuses between the 17th and 40th gestational week without anamnestic risk for congenital heart disease with this screening method in a two years' period. We found 33 fetuses to have an abnormality either in the four-chamber view or in the ventricular outflow tracts. The sensitivity of the method in the detection of congenital heart disease was found to be 81%, the specificity 99% and the positive predictive value 88%. Women at high risk for congenital heart disease in the fetus should still undergo a more detailed echocardiographic examination to maximize the sensitivity in the detection of structural heart defects. Nevertheless, the described screening procedure is an effective and feasible method to detect fetuses with severe congenital heart disease, whose prognosis may be improved by the delivery in a perinatological center.

Aorta, Thoracic↗

[Perinatal management of children with prenatal diagnosis of congenital heart defects].

During the recent years an increasing number of patients with congenital heart disease has been diagnosed prenatally by fetal echocardiography. The purpose of this study was to answer the question, which consequences will result from this prenatal information concerning the timing and mode of delivery as well as the neonatal treatment in these patients. From 12/1990 until 10/1994 21 neonates were treated in our center who had prenatal diagnosis of congenital cardiac malformation. In none of these patients we decided to change the timing or mode of delivery based on the hemodynamic findings of the cardiac malformation. Postnatally there was no evidence that this mode of delivery had a negative impact on the outcome in one of these neonates. All children, however, were delivered in a perinatal centre providing optimal perinatal care and early involvement of a pediatric cardiologist in the postnatal treatment. The perinatal treatment of patients with isolated ventricular or atrioventricular septal defects did not require specific intensive care measurements. On the other hand the majority of neonates with left heart, right heart or complex cardiac malformations required early intubation (81%), mechanical ventilation and intravenous administration of prostaglandin E1 (69%). Due to the prenatal diagnosis these measures were started before the adverse effects of ductal closure could lead to a hemodynamic deterioration in these patients. Despite this treatment 11/21 patients (52%) died in the neonatal period or in early infancy. Based on our experience we do not propose a change in the mode of delivery in the majority of children with prenatal diagnosis of congenital cardiac malformations. For further improvement in the perinatal treatment of children with congenital heart disease a close cooperation of gynecologists, neonatologists and pediatric cardiologists as well as concentration of those patients to perinatal centres will be necessary.

Echocardiography↗

[Monstrous fetal lymphangioma of the thoracic wall bilaterally. Case report and discussion of diagnosis and perinatal management].

Prenatal diagnosis, perinatal management, and surgical treatment of children with lymphangioma can cause considerable difficulties. This paper presents a case of a thoracic wall lymphangioma diagnosed in the seventeenth week of pregnancy, with quickly developed monstrous dimensions. The postnatal phase was complicated by preterm delivery in the 32nd week or pregnancy, bleeding in the tumor and mechanical compression of the thorax by the huge masses. Pediatric intensive care and surgical treatment save the child. Cosmetic result is convenient. By example of the presented case the literature, problems of diagnosis, perinatal management and nomenclature of lymphangioma are discussed.

Adult↗