Magnetic resonance imaging of the normal placenta.

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.

Feto-amniotic shunting -- experience of six centres.

Aim: 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.

Patients And Methods: We made a survey of all level III ultrasound centres of German-speaking countries from 1993 to 2001.

Prenatal magnetic resonance imaging as a useful adjunctive to ultrasound-enhanced diagnosis in case of a giant foetal tumour of the neck.

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.

The clinical impact of magnetic resonance imaging in fetuses with central nervous system anomalies on ultrasound scan.

Objectives: 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.

Patients And Methods: 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.

Subtelomeric rearrangements as neutral genomic polymorphisms.

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.

Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: a new case and discussion of the literature.

Objective: 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.

Methods: Molecular cytogenetic analyses in a fetus with congenital diaphragmatic hernia (CDH).

Results: This report describes the first case of a deletion of the region q26.

Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation.

Objectives: To add to the knowledge of chromosomal abnormalities associated with Dandy-Walker malformation.

Methods: Molecular cytogenetic analyses of a chorionic villus sampling and of an amniocentesis of a fetus with Dandy-Walker malformation and abnormal somatic development.

Results: All cells examined showed a 47, XY, +idic(9p)(pter-->q12::q12-->pter) de novo karyotype.

Neurogenic cells in human amniotic fluid.

Objective: The purpose of this study was to determine whether human amniotic fluid contains cells that harbor the potential to differentiate into neurogenic cells.

Study Design: 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).

Results: 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.

Fetal skeletal deformities - the diagnostic accuracy of prenatal ultrasonography and fetal magnetic resonance imaging.

Objective: To evaluate the diagnostic accuracy of prenatal ultrasonography and fetal magnetic resonance imaging (MRI) in fetuses with skeletal deformities (SD).

Methods: 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.

Foetal facial clefts: prenatal evaluation of lip and primary palate by 2D and 3D ultrasound.

Introduction: 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).

Methods: 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.

Stem cell marker expression in human trisomy 21 amniotic fluid cells and trophoblasts.

Down Syndrome is the most frequent genetic cause of mental retardation. Deregulation of specific differentiation processes is a major cause for the neuropathological cell features typical for this syndrome. The molecular mechanisms leading to Down Syndrome are likely to be operative from the very earliest time of embryonic/fetal development.

Fetal and early postnatal magnetic resonance imaging--is there a difference?

Aim: To evaluate whether fetal magnetic resonance imaging (MRI) could replace early postnatal MRI in fetuses with central nervous system (CNS) anomalies.

Methods: 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).

Patient with partial trisomy 9q and learning disability but no pyloric stenosis.

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.

Absence of microdeletions in the azoospermia-factor region of the Y-chromosome in Viennese men seeking assisted reproduction.

Purpose: 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.

Magnetic resonance imaging and ultrasound in the assessment of the fetal central nervous system.

Ultrasound is the screening modality of choice for evaluation of the fetal central nervous system (CNS). However, in cases of difficult diagnosis further fetal investigation is desirable. Due to ultrafast magnetic resonance imaging (MRI) techniques artifacts from fetal motions are minimized.

Prenatal diagnosis of a giant foetal lymphangioma and haemangiolymphoma in the second trimester using 2D and 3D ultrasound.

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.

Longitudinal observation of antenatally detected congenital lung malformations (CLM): natural history, clinical outcome and long-term follow-up.

Objective: 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).

Methods: 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.

Magnetic resonance imaging in foetuses with bilateral moderate ventriculomegaly and suspected anomaly of the corpus callosum on ultrasound scan.

Objective: 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.

Prenatal diagnosis of a supernumerary aberrant chromosome 9.

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.

Prenatal diagnosis of a de novo inversion of chromosome (2)(p21q11).

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.

Oct-4-expressing cells in human amniotic fluid: a new source for stem cell research?

Background: 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.

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.