G Bernaschek

Medical University of Vienna, Wien, Vienna, Austria

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Publications (288)651.29 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: The goal of this study was to provide a representative description of the normal placenta with contrast medium-free magnetic resonance imaging (MRI) in order to determine a standard of reference. One hundred consecutive singleton pregnancies were investigated by MRI without application of a contrast medium. The mean gestational age (GA) at the time of investigation was 29.5 weeks (range 19-40). Patients with suspected utero-placental insufficiency (UPI) or placental anomalies were excluded. Signal intensities were assessed and correlated with the respective GA. Antenatal MRI without contrast medium was able to depict placental status and morphological changes during gestation. A regular homogeneous structure was found in weeks 19-23. Subsequently, sporadic, slightly marked lobules appeared, which increased in number and markedness with ongoing gestation. Stratification of the lobules was observed after 36 weeks. The ratio of placental and amniotic fluid signal intensities decreased significantly with higher GA and with placental grading. MRI is well suited as an imaging method for the placenta. Our data may be used as a reference in the assessment of the placenta on MRI, and may have further clinical impact with respect to the determination of UPI.
    European Journal of Radiology 03/2006; 57(2):256-60. DOI:10.1016/j.ejrad.2005.11.025 · 2.37 Impact Factor
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    ABSTRACT: Foeto-amniotic shunting is an ultrasound-guided, therapeutic intervention for drainage of persistent intracavital fluid retention in severely affected foetuses with a high risk of mortality. In order to weigh up the comparatively high risk of intervention against the possible benefit, we evaluated the value of different indications, the complication rate and the time span of drains in situ. We made a survey of all level III ultrasound centres of German-speaking countries from 1993 to 2001. Six level III centres returned the questionnaire: forty-seven foeto-amniotic shunting procedures were performed in 30 foetuses [megacystis in 18 foetuses (three of these with urinary ascites), hydrothorax in eight foetuses, hydronephrosis in two foetuses, cystic adenomatoid malformation of the lung in one foetus, ovarian cyst in one foetus]. The median gestational age at time of shunting was 23.5 (range 16 - 33) weeks, at time of delivery 35 (range 23 - 41) weeks. The median time span of drains in situ was 19 (range 0 - 170) days. Altogether 18 of 30 foetuses (60 %) had a benefit of foeto-amniotic shunting. The best possible selection of pregnancies which might profit from foeto-amniotic shunting is required. The decisive criteria are the underlying defect as well as the severity and progression of the disorder.
    Ultraschall in der Medizin 05/2005; 26(2):134-41. DOI:10.1055/s-2005-858121 · 4.92 Impact Factor
  • C Mittermayer · P C Brugger · A Lee · E Horcher · M Hayde · G Bernaschek · D Prayer ·
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    ABSTRACT: Large cervical masses in the prenatal period are rare and can cause life threatening situations after birth. All available diagnostic techniques should therefore be used to determine the best mode of delivery in the case of such malformation. A large cervical mass was detected by ultrasound in a 41-year-old women, gravida 4, para 3, at 29 + 5 weeks of gestation. US imaging was most consistent with the diagnosis of a large cervical teratoma, but it was not possible to sufficiently evaluate the cervical anatomy of the oropharynx and trachea. An MRI scan demonstrated a distorted oropharynx and a trachea displaced to the right and posteriorly, but not detectable from the middle of the neck up to the larynx. Based on these facts, an EXIT procedure was planned and performed at 30 + 5 weeks of gestation. Foetal MRI provided valuable anatomical information for all specialists deciding on the indication and the pre-therapeutic planning of the EXIT procedure.
    Ultraschall in der Medizin 03/2005; 26(1):46-50. DOI:10.1055/s-2005-857947 · 4.92 Impact Factor
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    ABSTRACT: Submicroscopic chromosomal rearrangements affecting telomeres are important aetiological contributors to the development of mental retardation. Results from over 2,500 analysed patients with mental retardation demonstrated that about 5% have a subtelomeric aberration. However, some subtelomeric rearrangements have no phenotypic consequences. Due to the heterogeneity of such rearrangements and to the limited information about which monosomy or trisomy can be tolerated without phenotypic effect, conclusions about the association of a specific aberration and the phenotypical consequences are often hard to draw. We performed a study of subtelomeric aberrations with the aim to provide more insights into the understanding of such rearrangements as neutral genomic polymorphisms. We found two new polymorphisms: a duplication or triplication of the subtelomeric region of the long arm of chromosome 4 and a trisomy of the subtelomeric region of the short arm of chromosome 6 owing to a transposition to chromosome 22. These new data are presented and discussed in the context of the published literature.
    American Journal of Medical Genetics Part A 03/2005; 133A(1):48-52. DOI:10.1002/ajmg.a.30520 · 2.16 Impact Factor
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    ABSTRACT: Magnetic resonance imaging (MRI) was performed on fetuses with sonographically diagnosed central nervous system (CNS) anomalies to determine frequency and type of cases in which fetal MRI adds clinically relevant information. Forty-three cases presenting with CNS anomalies by ultrasonography were investigated by MRI. The potential effect of MRI on parental counseling and pre- or postnatal management were the main endpoints. Fetal MRI confirmed the sonographic diagnosis in 28 of 43 cases, showed additional findings in 14 of 43 cases, and was inferior to sonography in 1 of 43 cases. The MRI diagnosis had therapeutic consequences in 11 of 43 patients, with the fetal MRI diagnosis influencing parental counseling in 8 of these 11 patients. Prenatal patient care was not influenced by the additional investigation with fetal MRI. MRI is well suited as additional imaging method in fetuses with CNS anomalies. Additional fetal MRI is particularly indicated if the findings might have a therapeutic consequence.
    Ultraschall in der Medizin 03/2005; 26(1):29-35. DOI:10.1055/s-2004-813382 · 4.92 Impact Factor
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    ABSTRACT: To provide new insights into how chromosomal aberrations affect fetal development, as well as for the counseling of parents in comparable situations, it is important to characterize and report the genotypes of fetuses with clinical anomalies. Molecular cytogenetic analyses in a fetus with congenital diaphragmatic hernia (CDH). This report describes the first case of a deletion of the region q26.1-ter on chromosome 15 occurring as a de novo event associated with CDH. A detailed review of the literature provides further evidence of a functional association between deletions within the chromosomal region 15q24-ter and the development of CDH. The obtained data argue that detection of such a deletion in the region 15q24-ter associated with CDH likely predicts a poor prognosis. This report highlights the importance of giving special diagnostic attention to the chromosomal region 15q24-ter when prenatal ultrasound examination provides evidence of a CDH and warrants further research to identify genetic elements within the chromosomal region 15q24-ter related to the development of diaphragmatic hernia.
    Fetal Diagnosis and Therapy 11/2004; 19(6):510-2. DOI:10.1159/000080164 · 2.94 Impact Factor

  • Ultraschall in der Medizin 09/2004; 25(4):299-301. DOI:10.1055/s-2004-813176 · 4.92 Impact Factor
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    ABSTRACT: The purpose of this study was to determine whether human amniotic fluid contains cells that harbor the potential to differentiate into neurogenic cells. Amniotic fluid cells (uncultivated or cultivated in standard or in neurogenic differentiation medium) were analyzed for morphologic neurogenic differentiation and for expression of cluster of differentiation 133 (marker for neuronal stem cells), nestin (neuronal progenitor cells), neurofilament (neurons), the p75 common neurotrophin receptor, the brain-derived neurotrophic factor and neurotrophin-3 and cyclic nucleotide phosphodiesterase (oligodendrocytes). The appearance of neurogenic cells was not detected in uncultivated cells, was sporadic after cultivation in standard medium but strongly increased in neurogenic differentiation medium, and was accompanied by the induction of the expression of the analyzed marker genes. For the first time, this study provides evidence that human amniotic fluid contains cells that express markers for neuronal stem and progenitor cells, which harbor the potential to differentiate into neurogenic cells.
    American Journal of Obstetrics and Gynecology 08/2004; 191(1):309-14. DOI:10.1016/j.ajog.2003.12.014 · 4.70 Impact Factor
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    ABSTRACT: To add to the knowledge of chromosomal abnormalities associated with Dandy-Walker malformation. Molecular cytogenetic analyses of a chorionic villus sampling and of an amniocentesis of a fetus with Dandy-Walker malformation and abnormal somatic development. All cells examined showed a 47, XY, +idic(9p)(pter-->q12::q12-->pter) de novo karyotype. This report describes the fourth case of a tetrasomy 9p associated with Dandy-Walker malformation. This case, together with the three previously reported cases of an association with a tetrasomy 9p, indicate that this chromosomal aberration should be looked for when Dandy-Walker malformation is detected via prenatal ultrasonography.
    Prenatal Diagnosis 08/2004; 24(8):623-6. DOI:10.1002/pd.933 · 3.27 Impact Factor
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    ABSTRACT: To evaluate the diagnostic accuracy of prenatal ultrasonography and fetal magnetic resonance imaging (MRI) in fetuses with skeletal deformities (SD). Fourteen pregnant women of 21 - 34 weeks of gestation whose fetuses had SD on prenatal ultrasound (seven fetuses with spina bifida, four with complex malformation syndrome, two with scoliosis, and one with chondrodysplasia) were additionally investigated by fetal MRI using a 1.5T superconducting system with T1-and T2-weighted sequences in three section-planes. Main outcome measures were diagnostic accuracy, potential effect on parental counselling and influence on perinatal management of the additional investigation with fetal MRI. In 10 cases ultrasound had a better diagnostic accuracy than MRI concerning the diagnosis of SD. In four cases with spina bifida MRI provided additional information towards preoperative evaluation for neurosurgery. In five cases parental counselling was improved. There was no influence on perinatal management. MRI may provide additional information to ultrasound scan in fetuses with spina bifida and consecutive neurosurgery; in fetuses with other skeletal deformities additional information may be expected only in rare cases.
    Ultraschall in der Medizin 07/2004; 25(3):195-9. DOI:10.1055/s-2004-812946 · 4.92 Impact Factor
  • C Mittermayer · W Blaicher · P C Brugger · G Bernaschek · A Lee ·
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    ABSTRACT: To examine whether three-dimensional ultrasound (3D US) is an accurate diagnostic method of clinical use in the ability to define the location and extent of facial clefting prenatally, compared to two-dimensional ultrasound (2D US). 18 foetuses suspected or diagnosed to suffer from a facial cleft by 2D US were examined with a targeted 3D US. 2D US and 3D US results were compared with postnatal outcome. Comparison of the number of foetuses with a cleft lip + primary palate diagnosed correctly with 2D US with the results of adjunctive 3D US (true positive + true negative) showed that adjunctive 3D US correctly diagnosed more cleft lips (100 %; 15/15 foetuses vs. 66 %; 12/18 foetuses) and more cleft primary palates (100 %; 12/12 foetuses vs. 58 %; 7/12 foetuses). Interactive review of standardised 3D multiplanar images allows to systematically evaluate lip defects and abnormalities of the maxillary tooth-bearing alveolar ridge. The accuracy of adjunctive 3D ultrasound is superior to 2D ultrasound alone for extensive prenatal diagnosis of cleft lip with or without cleft primary palate.
    Ultraschall in der Medizin 05/2004; 25(2):120-5. DOI:10.1055/s-2004-813102 · 4.92 Impact Factor
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    ABSTRACT: To evaluate whether fetal magnetic resonance imaging (MRI) could replace early postnatal MRI in fetuses with central nervous system (CNS) anomalies. Thirteen pregnancies presenting with fetal CNS anomalies were investigated using MRI. Indications included ventriculomegaly combined with additional CNS anomaly (n=5), isolated ventriculomegaly (n=2), arachnoid cyst (n=2), holoprosencephaly (n=1), complex malformation syndrome (n=1), Dandy walker malformation (n=1) and midline cyst (n=1). Early postnatal MRI followed within the first six weeks of life. Investigation with early postnatal MRI confirmed the fetal MRI diagnosis in all cases. Investigation with postnatal MRI presented additional information in two cases. However, there was no change in patient care. Fetal MRI should replace early postnatal MRI in infants with CNS anomalies.
    Journal of Perinatal Medicine 02/2004; 32(1):53-7. DOI:10.1515/JPM.2004.009 · 1.36 Impact Factor
  • C Mittermayer · W Blaicher · J Deutinger · G Bernaschek · A Lee ·
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    ABSTRACT: Lymphangiomas are benign tumours of the lymphatic system. Early prenatal diagnosis is important to permit a planned delivery and provide adequate postnatal care. It thereby improves prognosis and allows the option of terminating the pregnancy if poor outcome is predicted. We report two cases, a giant haemangiolymphoma and a lymphangioma. 2D and 3D US findings are presented and differential diagnosis, therapeutic options and prognosis are discussed.
    Ultraschall in der Medizin 01/2004; 24(6):404-9. DOI:10.1055/s-2003-45218 · 4.92 Impact Factor
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    ABSTRACT: Partial trisomy of the long arm of chromosome 9 represents a very rare and heterogeneous group of chromosomal aberrations. Associated clinical features include learning disability and pyloric stenosis. We present the first patient to be reported with a duplication of the chromosome region 9q22.1-->q33. The patient (female, age 17 years) presented with growth retardation, microcephaly, facial dysmorphia, oesophageal atresia, aortic stenosis, ventricular septal defect, atrial septal defect II, hypothyroidism, and learning disability, but no pyloric stenosis. A review of all cases of partial trisomy 9q reported in the literature demonstrates that learning disability is a characteristic feature of this group of chromosomal aberrations. However, there are cases of duplications of the same chromosome 9 material, with and without pyloric stenosis. This study provides new information for future genetic counselling, especially in cases of prenatal diagnosis of partial trisomy 9q.
    Developmental Medicine & Child Neurology 01/2004; 46(1):57-9. DOI:10.1111/j.1469-8749.2004.tb00435.x · 3.51 Impact Factor
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    ABSTRACT: The azoospermia-factor region of the Y-chromosome is essential for spermatogenesis in humans. In the literature, a wide range is given for the frequency of microdeletions in this region. The purpose of this study was to evaluate our own population of patients. During a two-year period at Vienna Medical School, all male patients (n = 383) seeking assisted reproduction were screened for microdeletions. Thirty-three men had azoospermia and 154 severe oligozoospermia. Genomic DNA was prepared from peripheral lymphocytes and polymerase chain reaction analysis of the azoospermia-factor region was performed using the Promega kit. No case tested positive for azoospermia-factor microdeletions. In all cases amplification of 18 non-polymorphic sequence tagged sites was obtained. Y-chromosome microdeletions do not seem to be an important factor for male infertility in our patients. This suggests that screening should be restricted to men with azoospermia or severe oligozoospermia only.
    Wiener klinische Wochenschrift 01/2004; 115(23):831-4. DOI:10.1007/BF03041043 · 0.84 Impact Factor
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    ABSTRACT: The objective of the study is to present longitudinal observations in antenatally detected congenital lung malformations (CLM), particularly pulmonary sequestration (PS) and cystic adenomatoid malformation (CAM). Fetuses found to have a CLM on prenatal ultrasound (US) were included in this study and followed up until delivery. In all newborns radiographs and computerized tomography (CT) studies of the thorax were performed. Surgical procedures included sequesterectomy, lobectomy, segmentectomy, and non-anatomic resection. Based on prenatal US findings, intrauterine course, postpartum chest radiographs and CT scans, as well as clinical signs and surgical findings patients were divided into six groups. Over a period of 6 years, routine prenatal US revealed suggestion of CLM in a series of 35 consecutive fetuses. In six cases pregnancy was terminated or the fetuses suffered fetal demise. Another four fetuses became symptomatic in utero when sequential scanning revealed hydrops, hydrothorax, and enlargement of cysts or polyhydramnios. Three cases in this group received serial therapeutic amniocentesis and serial puncture of either the hydrothorax or intrapulmonary cysts. After postpartum treatment in the intensive care unit surgical procedures were performed uneventfully and confirmed the diagnosis of CAM, PS or hybrid type lesions. In 11 patients US findings were considered to demonstrate spontaneous resolution of the lesion, but disappearance without sequelae could be confirmed only in six infants. Five infants were shown to have persistent CLM on postpartum CT scans. These infants underwent resection of the lesion within the first year of life. In 11 fetuses CLM were continuously demonstrated during pregnancy with only slight changes in size and structure. Postpartum the infants were asymptomatic and were subjected to a systematic plan of diagnostic work-up and treatment. Surgery in these infants revealed a large number of hybrid type lesions (n=5). In three infants, the primary diagnosis of PS or CAM had to be corrected during the diagnostic and therapeutic work-up. CLM are diagnosed antenatally with an increasing frequency and are shown to be quite different from previously applied concepts. The expected clinical outcome is far better than thought to be possible.
    European Journal of Cardio-Thoracic Surgery 12/2003; 24(5):703-11. DOI:10.1016/j.ejcts.2003.08.001 · 3.30 Impact Factor
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    ABSTRACT: For counselling of parents, as well as to basically understand how chromosome aneuploidies affect embryonic or fetal development, it is of great importance to analyse and collect genotypes of fetuses with clinical anomalies. This report describes the first prenatal diagnosis of a supernumerary chromosome 9 with deletion of the chromosome region 9q34. Ultrasound examination in the 13th week of gestation detected increased nuchal translucency of 6.9 mm, fetal ascites and a pronounced facial anomaly. Hysteroscopic examination before curettage made it possible to describe this facial anomaly as a double-sided, median defect of the superior lip with protrusion of parts of intersegments. This report provides evidence that the absence of trisomy 9 in 9q34 does not prevent abnormal facial development.
    Archives of Gynecology and Obstetrics 09/2003; 268(3):248-50. DOI:10.1007/s00404-002-0355-y · 1.36 Impact Factor
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    ABSTRACT: The diagnosis of anomalies of the corpus callosum (ACC) in foetuses with bilateral moderate ventriculomegaly (BMV) is difficult by means of ultrasound scan. The aim of this study was to examine the value of the additional investigation with magnetic resonance imaging (MRI) in foetuses with BMV and suspected ACC on ultrasound scan. Pathogenesis and clinical presentation of BMV and ACC are discussed. 41 foetuses with central nervous system (CNS) anomalies on ultrasound scan were assessed by ultrasonography and MRI from 1999 to 2001. Eight of these 41 foetuses presented with BMV and suspected ACC on ultrasound scan and were prospectively included in the study. Foetal investigations with sonography and MRI were analysed with regard to diagnostic confidence; results were correlated with post partum findings. Six of these 41 foetuses presented with BMV without suspected ACC on ultrasound scan and were retrospectively analysed. Ultrasonography suspected ACC in 8 foetuses with BMV. MRI confirmed the presence of ACC in 4 of these 8 cases. MRI additionally showed ACC in two of the six retrospectively analysed foetuses with BMV without suspected ACC on ultrasound scan. Prenatal MRI diagnosis was confirmed after delivery in all cases. MRI is more sensitive than ultrasonography in the evaluation of ACC in foetuses with BMV. For prenatal screening ultrasound still remains the investigation of choice.
    Ultraschall in der Medizin 09/2003; 24(4):255-60. DOI:10.1055/s-2003-41709 · 4.92 Impact Factor
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    ABSTRACT: Prenatal diagnosis of "apparently balanced" chromosomal rearrangements, if not inherited from a parent, are problematic for genetic counsellors and families. Although the parents need to be informed about the increased risk of multiple congenital anomalies, the anomalies that the fetus is at risk can not be discussed unless a similar breakpoint and accompanying phenotype have been reported in the literature. In the reported case prenatal ultrasound examination revealed a massive hydrocephalus internus and IUGR. The karyotype of the fetus was inv(2)(p21q11) de novo. Postmortem examination revealed short palpebral fissures, hypertelorism, atypical nasiolabial configuration, microgenia, extended position of the fingers, atypical proximal inserted first toe, hydrocephalus internus, hypoplasia of the cerebellum and bulbi olfactorii, bilateral hypoplastic lungs, atrial septal defect II, small right ventricle, dysplasia of the pulmonary valve, hypoplastic pulmonary artery, right proximal ureterostenosis, hypoplastic gall bladder. This is the first description of a de novo inversion (2)(p21q11) in a fetus with multiple malformations.
    Archives of Gynecology and Obstetrics 09/2003; 268(3):230-2. DOI:10.1007/s00404-002-0313-8 · 1.36 Impact Factor
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    ABSTRACT: It is the hope of investigators and patients alike that in future the isolation of pluripotent human stem cells will allow the establishment of therapeutic concepts for a wide variety of diseases. A major aim in this respect is the identification of new sources for pluripotent stem cells. Oct-4 is a marker for pluripotent human stem cells so far known to be expressed in embryonal carcinoma cells, embryonic stem cells and embryonic germ cells. Cells from human amniotic fluid samples were analysed for mRNA expression of Oct-4, stem cell factor, vimentin and alkaline phosphatase via RT-PCR. Oct-4 protein expression was investigated by Western blot analysis and immunocytochemistry. Oct-4-positive cells were also analysed for the expression of cyclin A protein via double immunostaining. Performing RT-PCR, Western blot and immunocytochemical analyses revealed that in human amniotic fluid in the background of Oct-4-negative cells a distinct population of cells can be found, which express Oct-4 in the nucleus. Oct-4-positive amniotic fluid cell samples also express stem cell factor, vimentin and alkaline phosphatase mRNA. The Oct-4-positive amniotic fluid cells are actively dividing, proven by the detection of cyclin A expression. The results presented here suggest that human amniotic fluid may represent a new source for the isolation of human Oct-4-positive stem cells without raising the ethical concerns associated with human embryonic research.
    Human Reproduction 08/2003; 18(7):1489-93. DOI:10.1093/humrep/deg279 · 4.57 Impact Factor

Publication Stats

3k Citations
651.29 Total Impact Points


  • 1988-2006
    • Medical University of Vienna
      • Department of Obstetrics and Gynecology
      Wien, Vienna, Austria
    • IST Austria
      Klosterneuberg, Lower Austria, Austria
  • 1983-2004
    • University of Vienna
      • • School of Dentistry
      • • Department of Gynecology
      Wien, Vienna, Austria
  • 2001
    • Vienna General Hospital
      Wien, Vienna, Austria
  • 2000
    • Children´s Hospital Association
      Overland Park, Kansas, United States
  • 1999
    • University of Iowa Children's Hospital
      Iowa City, Iowa, United States