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Biomedical subjects

G Bernaschek

Publications and source records attributed to G Bernaschek.

At least 19 recordsLinked to original sources
PubMed2003

Fetal ovarian cysts: development and neonatal outcome.

INTRODUCTION: The aim of the study was to evaluate the outcome of fetal ovarian cysts in relation to their size and ultrasonic appearance. METHODS: We retrospectively analysed pre- and postnatal charts of 61 infants with a prenatal diagnosis of ovarian cysts between 1991 and 2000. RESULTS: In a total of 61 fetuses 65 ovarian cysts were detected by transabdominal ultrasound: 35 (57 %) cysts on the left side, 22 (36 %) on the right side and 4 fetuses (7 %) had bilateral cysts. Three patients with uncomplicated cysts were lost to follow-up and one fetus with bilateral cysts died in the 27th week of gestation. In 17 cysts treatment was necessary. 14 cysts (all complicated) were operated after delivery because of persistence or enlargement. The histological results were either follicular or theca lutein cysts in 12 cases, one lymphangioma and one teratoma. Two cysts were aspirated in utero and one after delivery. In the remaining 40 fetuses, 43 cysts where only controlled by ultrasound. 8 cysts regressed before delivery and 35 cysts after delivery independent of their sonographic appearance. The mean diameter of cysts that required treatment was significantly different from the mean diameter of cysts that resolved spontaneously (6.8 [SD 2.4] cm vs. 3.3 [SD 0.8] cm; p < 0.01). CONCLUSION: Complicated cysts which do not regress should be treated either by laparotomy or laparoscopically after delivery. Uncomplicated cysts which exceed 5 cm could be treated by in utero aspiration or aspiration after delivery to avoid further complications. Cysts smaller than 5 cm, presenting the tendency to regress, should be left untouched independent of their sonographic appearance.

Female↗
PubMed2002

Dandy-Walker malformation as sonographic marker for fetal triploidy.

Fetal triploidy is a frequent reason for early abortion, and only few fetuses survive into the second trimester of pregnancy. Common sonographic markers for triploidy in the second trimester are severe asymmetric growth restriction (triploidy of maternal origin) and partial molar changes of the placenta (triploidy of paternal origin), together with structural fetal malformations. We report prenatal sonographic findings of thirteen triploid fetuses between 18 and 34 weeks' gestational age (eleven fetuses with 69, XXX, and two fetuses with 69, XXY). Intrauterine growth restriction (11/13 fetuses), oligohydramnios (8/13), bilateral cerebral ventriculomegaly (6/13), structural heart defects (4/13), and Dandy-Walker malformation or Dandy-Walker variant (4/13) were the most frequent findings. We conclude that the Dandy-Walker malformation and Dandy-Walker variant should be considered as additional sonographic markers for fetal triploidy.

Congenital Abnormalities↗
PubMed2002

[Complication rates of invasive intrauterine procedures in a centre for prenatal diagnosis and therapy].

AIM: A retrospective analysis of all complications occurring after invasive prenatal procedures was performed in order to have exact data for patient information and quality control in our department. METHOD: During a period of two years 2256 invasive ultrasound-guided procedures were performed. With the help of a computer data base, the follow-up of 2066 patients was possible. We retrospectively investigated all cases of severe complications resulting in intrauterine foetal death or abortion within 14 days after the invasive procedure. RESULTS: Depending on the method of invasive testing there were different rates of severe complications in single pregnancies, which varied from 0.44 % up to 0.99 % (Amniocentesis [AC]): 0.74 %, late placental biopsy: 0.44 %, chorionic villi sampling: 0.99 %, cordocentesis: 0.75 %. The complication rate after AC was 1.49 % in younger, inexperienced colleagues compared to 0.58 % in specialists for prenatal medicine. The complication rate in twin pregnancies (AC) was 1.99 %. CONCLUSION: Before invasive prenatal procedures can be performed, detailed information has to be given to the patients. The exact rate of complications should be included in this information. More complicated invasive procedures should be centralized in a tertiary centre for prenatal medicine because wider experience of the investigators leads to a decreased rate of severe complications.

Abortion, Spontaneous↗
PubMed2002

The twin-twin transfusion syndrome - an unsolved problem.

AIM: We analysed the data of pregnancies with twin-twin transfusion syndrome (TTTS) in order to identify clinical factors present at the time of diagnosis which can be used to predict the outcome of the pregnancy. METHOD: We report prenatal sonographic findings, interventions and outcomes of 28 TTTS pregnancies over a three-year period. Patients were classified into stages of TTTS as follows: Stage I: bladder of donor visible, normal Doppler studies; Stage II: bladder of donor not visible, normal Doppler studies; Stage III: abnormal Doppler studies; Stage IV: hydrops. RESULTS: In nine pregnancies the infants did not survive the perinatal period (the first 28 days after delivery): the median gestational age at delivery was 24 (range 21 - 29) weeks; six of these nine pregnancies (66 %) were classified as stages III or IV. In five pregnancies one infant survived the perinatal period: the median gestational age at delivery was 28 (range 27 - 32) weeks; four of these five pregnancies (80 %) were classified as stages III or IV. In 14 pregnancies both infants survived the perinatal period: the median gestational age at delivery was 30.5 (range 28 - 39) weeks; two of these 14 pregnancies (14 %) were classified as stages III or IV. CONCLUSION: In pregnancies complicated by TTTS, the results of Doppler studies at the time of diagnosis represent the most important clinical factor predicting the outcome of the pregnancy. At the time of delivery, however, the predicted outcome is most directly linked to the gestational age.

Female↗
PubMed2001

Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16.

Marker chromosomes are supernumerary chromosomes of unknown origin and are seldom found in prenatal diagnosis. Application of fluorescent in situ hybridization (FISH) allows the identification of the chromosomal origin of markers. Estimation of the risk of an abnormal phenotype outcome can be enabled by collecting data on phenotypes associated with markers of the same chromosomal origin. So far only very few cases of prenatal diagnosis of de novo supernumerary markers derived from chromosome 16 have been reported. Here the prenatal diagnosis of a de novo supernumerary marker chromosome 16 is described and the relevant literature discussed.

Abortion, Induced↗
PubMed2001

Limb-body wall complex: a compound anomaly pattern in body-wall defects.

Our presentation of four cases demonstrates the essential features of limb-body wall complex (LBWC), representing a compound anomaly pattern in body-wall defects. The diagnosis of this entity is based on two of the three following characteristics: (1) exencephaly/encephalocele and facial clefts; (2) thoraco- and/or abdominoschisis; and (3) limb defects. A definite association with internal anomalies and severe kyphoscoliosis makes a more distinct concept of the pathogenesis reasonable. Limb-body wall malformations result from a malfunction of the ectodermal placodes involving the early embryonic folding process. The poor prognosis of LBWC calls for early antenatal diagnosis.

Abdominal Muscles↗
PubMed2001

High levels of reticulated platelets and thrombopoietin characterize fetal thrombopoiesis.

To characterize fetal thrombopoiesis, we determined plasma thrombopoietin (TPO) and glycocalicin levels, platelet counts and reticulated platelets (RP) of fetuses and compared them with the respective values of their mothers. Percutaneous umbilical vein sampling in abnormal pregnancies revealed twofold higher thrombopoietin levels and 20-fold higher reticulated platelet counts, but lower levels of glycocalicin in fetuses compared with their mothers (P < 0.05). Neither the expression of platelet glycoprotein Ib and IIb on platelets nor the platelet counts were different between mothers and their fetuses. These data indicate enhanced thrombopoiesis and/or increased platelet turnover in fetuses.

Adult↗
PubMed2001

Influence of acupuncture on Doppler ultrasound in pregnant women.

OBJECTIVE: To evaluate the influence of acupuncture on the blood flow in the umbilical artery (UA), fetal aorta and uterine artery and on the fetal heart rate using two different acupuncture points (SP-6 (Sanyinjiao) and LI-4 (Hegu)). METHODS: In group A (n = 50), measurements (Doppler ultrasound and fetal heart rate) were performed at term after an uneventful pregnancy (#1) followed by acupuncture treatment using the acupuncture-point SP-6 bilaterally. The treatment time lasted 15 min after which the next measurement (#2) was carried out. The needles were then inserted into the LI-4 acupuncture point for a further 15 min. A third measurement at the end of acupuncture treatment (#3) completed the session. In group B (n = 25), measurements were made before (#1) and after (#4) acupuncture at LI-4 acupuncture points only. RESULTS: In group A, the mean systolic/diastolic (S/D) ratios of UA #1, UA #2 and UA #3 were 2.45, 2.38 and 2.22, respectively (P = 0.0012). The difference in mean S/D ratios between UA #1 and UA #3 as well as that between UA #2 and UA#3 were statistically significant (P = 0.0002 and P = 0.008, respectively). There was no difference between the mean S/D ratios of the uterine artery and between the mean resistance indices of the fetal aorta. In group B, the only significant difference between measurements following acupuncture treatment was in fetal heart rate (139 vs. 143 bpm, P = 0.02). CONCLUSION: Our study indicates a positive influence of acupuncture treatment on umbilical artery waveforms when using a combination of SP-6 (Sanyinjiao) and LI-4 (Hegu) acupuncture points. Acupuncture performed at these sites either individually or in combination does not seem to affect blood flow in the fetal aorta or uterine artery.

Acupuncture Therapy↗
PubMed2001

Combined prenatal ultrasound and magnetic resonance imaging in two fetuses with suspected arachnoid cysts.

Sonography and ultrafast magnetic resonance imaging were used in the prenatal assessment of two fetuses with sonographically suspected arachnoid cysts. In one case magnetic resonance imaging confirmed the ultrasound diagnosis, in the other case magnetic resonance imaging revealed the presence of a midline cyst associated with dysgenesis of the corpus callosum. Ultrafast magnetic resonance imaging is a useful supplementary imaging method in the evaluation of pregnancies complicated by fetal cerebral anomalies.

Adult↗
PubMed2001

[Prenatal diagnosis of full, non mosaic trisomy 22 in the third trimester].

A 31-year-old Caucasian women was referred to our department after IUGR was suspected by her gynaecologist at 29 weeks' amenorrhea in her second pregnancy. Multiple anomalies were detected by prenatal ultrasound in the 29th week of gestation. Chordocentesis was performed and revealed a Trisomy 22 in all fetal blood cells. The pregnancy was terminated. Post-mortem investigations excluded chromosomal mosaicism. Prenatal ultrasound findings and post-mortem features are presented.

Abnormalities, Multiple↗
PubMed2001

Evaluation of first trimester pregnancy in cases of threatened abortion by means of doppler sonography.

OBJECTIVE: Threatened abortion is one of the major problems in Obstetrics and applies to (1/3) of all pregnancies. The aim of this study was to establish normal ranges for Doppler indices of the flow velocity waveforms in uterine arteries (S/D, RI, PI) and ss-hCG serum concentrations in a control group in the first trimester of pregnancy. The obtained values were compared with those obtained in pregnancies threatened by abortion (6 - 11 weeks). METHODS: Investigated groups: 55 controls and 47 with symptoms of threatened abortion, 27 of them aborted. Ultrasound examinations were carried out by means of an endovaginal probe. Serum ss-hCG was determined by immunoenzymatic method. The standards for measured values were established based on means from measurements obtained in the control group in the corresponding week of pregnancy. RESULTS: We observed negative correlation between gestational age and RI and negative tendencies for S/D and PI indices in the control group. Positive correlation (p < 0.05) was found between ss-hCG serum concentration and gestational age (up to 9(th) week) and significant differences in ss-hCG concentrations between both examined groups. There were also statistical differences for S/D, RI and PI indices in both analyzed groups for each week of pregnancy. CONCLUSION: We conclude that measurement of the quality parameters of the flow velocity waveforms in uterine arteries and calculation of beta-hCG concentration in serum are useful methods in diagnosis of threatened abortion in the first trimester of pregnancy.

Abortion, Threatened↗
PubMed2000

The TSC1 gene product, hamartin, negatively regulates cell proliferation.

Tuberous sclerosis is an autosomal dominant hereditary disease caused by mutations in either the TSC1 or the TSC2 tumor suppressor gene. The TSC1 gene on chromosome 9q34 encodes a 130 kDa protein named hamartin, and the TSC2 gene on chromosome 16p13.3 codes for tuberin, a 200 kDa protein. Here we show that expression of hamartin, assayed by immunoblot analyses, is high in G(0)-arrested cells and hamartin is expressed throughout the entire ongoing cell cycle. An interaction of hamartin and tuberin can be detected in every phase of the cell cycle. Ectopic expression of high levels of hamartin attenuates cellular proliferation. We provide evidence that this effect could depend on a coiled-coil region earlier proposed to be involved in binding of hamartin to tuberin. Further investigations revealed that hamartin affects cell proliferation via deregulation of G(1) phase. Our data have a clear impact on understanding the role of hamartin during development of this disease.

Animals↗
PubMed2000

Association of fetal and maternal carboxyhemoglobin levels in normal and Rh-alloimmune pregnancies.

OBJECTIVE: To compare paired antepartum fetal/maternal COHb ratios in whole blood from control and alloimmunized pregnancies and to examine the relationships between fetal and maternal COHb. METHODS: COHb levels were measured in paired fetal and maternal blood samples obtained at cordocentesis in 47 control and 16 Rh-alloimmunized pregnancies. COHb was determined by gas chromatography. Results were analyzed by t-test, regression and analysis of covariance. RESULTS: Although fetal/maternal COHb ratios for control and alloimmunized pregnancies were not statistically significantly different, i.e. 1. 11+/-0.04 and 1.26+/-0.09, respectively (P=0.09), fetal COHb levels were higher in Rh-alloimmunized fetuses (P=0.0002). Fetal COHb levels were also higher than paired maternal levels among the alloimmunized group (P=0.011), but not among the control group (1. 04+/-0.04, P=ns). In univariate regression analysis, fetal and maternal COHb levels were significantly correlated with one another in both control (r=0.52, P=0.0002) and alloimmunized pregnancy groups (r=0.52, P=0.05). Comparison of the slopes of the fetal versus maternal COHb plots for the two groups showed a significant difference (P=0.02), with the alloimmunized group having the steeper slope. CONCLUSION: Differences in the antepartum fetal-maternal COHb relationships in control and alloimmunized groups likely reflect increased endogenous CO production among alloimmunized fetuses as a result of pathologic hemolysis.

Adult↗