J Deutinger

Medical University of Vienna, Wien, Vienna, Austria

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Publications (207)383.48 Total impact

  • P Sieroszewski · M Perenc · E B Budecka · W Sobala · J Deutinger
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    ABSTRACT: Different sonographical and biochemical methods for the detection of an elevated risk of chromosomal abnormality are used. The aim of our study was to establish a diagnostic scheme with the highest sensitivity by means of an algorithm incorporating all parameters. In a group of 1490 pregnant women, ultrasound examination including nuchal translucency and nasal bone measurement was performed in the first trimester. Then, in the early second trimester, a second ultrasound examination combined with measuring nuchal thickness and nasal bone was carried out. The combination of the NT and NB measurement showed the highest sensitivity (94.7%), specificity (99.21%), PPV (85.7%) and NPV (99.73%). The proposed integrated test is characterised by a high predictive value for the detection of chromosomal abnormalities, low cost of performance and absolute safety for the foetus and could be offered to all pregnant women. The combination of two ultrasound examinations and biochemistry greatly increased the value of the test.
    Ultraschall in der Medizin 05/2008; 29(2):190-6. DOI:10.1055/s-2007-963294 · 4.92 Impact Factor
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    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
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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: 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
  • M Wald · K Lawrenz · J Deutinger · M Weninger
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    ABSTRACT: The accuracy of fetal ultrasound (US) in diagnosing central nervous system (CNS) malformations was assessed with the aim to define in which cases US is reliable enough to assist in decisions on medical indication for abortions without resorting to magnetic resonance imaging (MRI). Retrospective analysis of the course of 69 fetuses with anomalies of the CNS detected on prenatal US in a university hospital. General Hospital of Vienna, University of Vienna, Austria. Prenatal US diagnosis was verified by postpartal US, MRI or computed tomography (CT) in the live births, and by autopsy of the fetus in cases of pregnancy termination. Abortion was induced in 40 fetuses for anencephaly (n = 4), exencephaly (n = 6), dorsal dysraphism (n = 6), encephalocele (n = 3), pronounced hydrocephaly (n = 11), holoprosencephaly (n = 4), Dandy Walker cyst (n = 5), and 1 complex syndrome - all confirmed on autopsy. In 29 live births, hydrocephaly, meningomyelocele, and microcephaly had always been correctly identified prenatally. Four Chiari malformations had been missed. Agenesis of the corpus callosum had remained unnoticed in 4 out of 14 cases and been erroneously reported in 5. Diagnostic errors were frequent for Dandy-Walker cyst and great cerebellomedullary cistern. Transabdominal fetal US did not lead to unjustified interventions. Inaccuracy in diagnosing abnormalities of the posterior fossa and the median telencephalon as well as aetiological clarification of hydrocephalus require additional MRI of the fetal CNS in patients selected accordingly.
    Ultraschall in der Medizin 07/2004; 25(3):214-7. DOI:10.1055/s-2004-813180 · 4.92 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
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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
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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
  • 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: 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: The aim of the study was to evaluate the outcome of fetal ovarian cysts in relation to their size and ultrasonic appearance. We retrospectively analysed pre- and postnatal charts of 61 infants with a prenatal diagnosis of ovarian cysts between 1991 and 2000. 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). 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.
    Ultraschall in der Medizin 03/2003; 24(1):21-6. DOI:10.1055/s-2003-37414 · 4.92 Impact Factor
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    Ultrasound in Obstetrics and Gynecology 01/2003; 22(S1):127 - 127. DOI:10.1002/uog.676 · 3.85 Impact Factor
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    Ultrasound in Obstetrics and Gynecology 01/2003; 22(S1):56-57. DOI:10.1002/uog.413 · 3.85 Impact Factor

Publication Stats

1k Citations
383.48 Total Impact Points


  • 1987–2006
    • Medical University of Vienna
      • Department of Obstetrics and Gynecology
      Wien, Vienna, Austria
  • 1986–2005
    • University of Vienna
      • School of Dentistry
      Wien, Vienna, Austria
  • 2001
    • University of Lodz
      Łódź, Łódź Voivodeship, Poland
    • Vienna General Hospital
      Wien, Vienna, Austria