Publications by authors named "Bettelheim D"

Background: Intrauterine transfusions (IUTs) are a life-saving treatment for fetal anemia. However, with each transfusion, iron bypasses uptake regulation through the placenta and accumulates in fetal organs. Unlike other imaging modalities, fetal magnetic resonance imaging (MRI) is capable of non-invasively assessing fetal liver disease and/or organ iron overload.

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Article Synopsis
  • Current standard genetic testing methods struggle to provide detailed information on duplications and balanced structural variants (SV), which can be crucial for clinical assessment.
  • A retrospective study from 2023 examined cases where SVs detected by standard methods were further analyzed using optical genome mapping (OGM), revealing that OGM successfully resolved six out of seven cases.
  • The study concludes that OGM is a valuable tool for characterizing SVs, providing essential information in certain clinical situations, particularly in prenatal cases or when family analysis is not feasible.
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Background And Purpose: The radiologic evaluation of ongoing myelination is currently limited prenatally. Novel quantitative MR imaging modalities provide relaxometric properties that are linked to myelinogenesis. In this retrospective postmortem imaging study, the capability of Synthetic MR imaging and MR fingerprinting-derived relaxometry for tracking fetal myelin development was investigated.

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Objective: To investigate human femur development in fetal growth restriction (FGR) by analyzing femur morphometrics and distal epimetaphyseal features on prenatal magnetic resonance imaging (MRI).

Methods: This was a retrospective study of 111 fetuses (mean gestational age (GA), 27 + 2 weeks (range, 19-35 weeks)) with FGR associated with placental insufficiency without other major abnormalities and 111 GA-matched normal controls. On 1.

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In this study we compare temporal lobe (TL) signal intensity (SI) profiles, along with the average thicknesses of the transient zones obtained from postmortem MRI (pMRI) scans and corresponding histological slices, to the frontal lobe (FL) SI and zone thicknesses, in normal fetal brains. The purpose was to assess the synchronization of the corticogenetic processes in different brain lobes. Nine postmortem human fetal brains without cerebral pathologies, from 19 to 24 weeks of gestation (GW) were analyzed on T2-weighted 3T pMRI, at the coronal level of the thalamus and basal ganglia.

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Background And Purpose: On the basis of a single multidynamic multiecho sequence acquisition, SyMRI generates a variety of quantitative image data that can characterize tissue-specific properties. The aim of this retrospective study was to evaluate the feasibility of SyMRI for the qualitative and quantitative assessment of fetal brain maturation.

Materials And Methods: In 52 fetuses, multidynamic multiecho sequence acquisitions were available.

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Purpose: To explore whether epidemiological shifts regarding reproduction and pregnancy have influenced the spectrum of indications for late termination of singleton pregnancies (TOP) above 17 weeks of gestation and to evaluate temporal changes in maternal demographics and fetal indications over the last 16 years.

Methods: Retrospective single-center cohort study involving all late TOPs preceded by feticide between 1 January 2004 and 31 December 2019 at a tertiary referral hospital in Austria. Outcome variables were retrieved and a time trend assessed between two 8-year intervals (2004-2011 versus 2012-2019).

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Background And Purpose: Although "corpus callosum agenesis" is an umbrella term for multiple entities, prenatal counseling is based reductively on the presence (associated) or absence (isolated) of additional abnormalities. Our aim was to test the applicability of a fetal MR neuroimaging score in a cohort of fetuses with prenatally diagnosed isolated corpus callosum agenesis and associated corpus callosum agenesis and correlate it with neurodevelopmental outcomes.

Materials And Methods: We performed a single-center retrospective analysis of a cohort of cases of consecutive corpus callosum agenesis collected between January 2011 and July 2019.

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The purpose of the study was to investigate the interrelation of the signal intensities and thicknesses of the transient developmental zones in the cingulate and neocortical telencephalic wall, using T2-weighted 3 T-magnetic resonance imaging (MRI) and histological scans from the same brain hemisphere. The study encompassed 24 postmortem fetal brains (15-35 postconceptional weeks, PCW). The measurements were performed using Fiji and NDP.

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Objective: In this retrospective study, we describe the clinical course, ultrasound findings and genetic investigations of fetuses affected by fetal akinesia.

Materials And Methods: We enrolled 22 eukaryotic fetuses of 18 families, diagnosed with fetal akinesia between 2008 and 2016 at the Department of Obstetrics and Feto-Maternal Medicine at the Medical University of Vienna. Routine genetic evaluation included karyotyping and chromosomal microarray analysis.

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Objectives: Corpus callosal agenesis (CCA) is one of the most common brain malformations and is generally associated with a good outcome when isolated. However, up to 25% of patients are at risk of neurodevelopmental delay, which currently available clinical and imaging parameters are inadequate to predict. The objectives of this study were to apply and validate a fetal magnetic resonance imaging (MRI) anatomical scoring system in a cohort of fetuses with isolated CCA and to evaluate the correlation with postnatal neurodevelopmental outcome.

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The subplate (SP) is a transient structure of the human fetal brain that becomes the most prominent layer of the developing pallium during the late second trimester. It is important in the formation of thalamocortical and cortico-cortical connections. The SP is vulnerable in perinatal brain injury and may play a role in complex neurodevelopmental disorders, such as schizophrenia and autism.

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Obstetric imaging, subserving fetal evaluation, may yield incidental maternal findings. Based on prenatal magnetic resonance (MR) imaging, this study aims to investigate incidental intervertebral disc degeneration and displacement in young, pregnant women. This retrospective study included the sagittal 1.

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Background: Congenital limb malformations are rare, and their perinatal outcomes are not well described. This study analyzed the perinatal outcomes of infants with congenital limb malformations.

Methods: All infants with congenital limb malformations who underwent prenatal assessment and delivery at our tertiary referral center from 2004 through 2017 were retrospectively identified.

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Objective: Normal cognitive development usually requires a structurally intact and complete cerebellar vermis. The aim of this study was to evaluate whether quantification by fetal magnetic resonance imaging (MRI) of vermis- and brainstem-specific imaging markers improves the definition of cystic posterior fossa malformations (cPFM).

Methods: Fetuses diagnosed with cPFM that had an available midsagittal plane on T2-weighted MRI were identified retrospectively and compared with gestational-age (GA) matched brain-normal controls.

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Background The cortical plate (future cortex) is readily identifiable in utero at MRI. However, MRI evaluation of the remaining brain layers is limited by the poor T2 contrast between the subplate and the underlying intermediate zone (IZ). Purpose To compare the delineation of fetal brain lamination between T2-weighted single-shot fast spin-echo (SSFSE) and echo-planar imaging (EPI) fluid-attenuated inversion recovery (FLAIR) images, and to quantify differences in the depiction of brain layering between the two sequences.

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Objective: To assess the value of increased nuchal translucency (NT) at first-trimester screening (FTS) despite the superiority of noninvasive prenatal testing with cell-free DNA (cfDNA) for the detection of fetal aneuploidies.

Methods: Retrospective analysis of all FTS data from 2005 to 2015 in our department. Only cases with increased NT and euploid karyotype were considered eligible for inclusion.

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Objective: To evaluate the rate of live birth and the duration of survival after termination of pregnancy without feticide.

Methods: We conducted a retrospective analysis of 241 terminations of pregnancy without feticide for fetal anomalies or genetic abnormalities between 20 0/7 and 24 0/7 weeks of gestation at a single tertiary care referral center in Europe between February 2003 and May 2017. A multivariate binary regression model was used to evaluate factors associated with live birth.

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Objectives: To optimize the imaging assessment of fetal hindbrain malformations, this observational magnetic resonance imaging (MRI) study aimed to assess whether fetal vermian lobulation can be quantified accurately and whether the relative growth of vermian lobules is uniform.

Methods: This retrospective study included singleton fetuses which underwent T2-weighted MRI in vivo with a 1.5-Tesla (T) scanner or within 24 h postmortem with a 3-T scanner between January 2007 and November 2016 at the Medical University of Vienna.

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Congenital upper limb differences are frequently associated with complex syndromes. Ultrasonography is considered as the first-line diagnostic modality, and fetal MRI can be useful to further evaluate ill-defined areas. Genetic and non-invasive prenatal testing help to identify the underlying genetic disorder.

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Diffusion tensor imaging (DTI) and tractography offer the unique possibility to visualize the developing white matter macroanatomy of the human fetal brain in vivo and in utero and are currently under investigation for their potential use in the diagnosis of developmental pathologies of the human central nervous system. However, in order to establish in utero DTI as a clinical imaging tool, an independent comparison between macroscopic imaging and microscopic histology data in the same subject is needed. The present study aimed to cross-validate normal as well as abnormal in utero tractography results of commissural and internal capsule fibers in human fetal brains using postmortem histological structure tensor (ST) analysis.

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Objectives: This prenatal MRI study evaluated the potential of diffusion tensor imaging (DTI) metrics to identify changes in the midbrain of fetuses with Chiari II malformations compared to fetuses with mild ventriculomegaly, hydrocephalus and normal CNS development.

Methods: Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated from a region of interest (ROI) in the midbrain of 46 fetuses with normal CNS, 15 with Chiari II malformations, eight with hydrocephalus and 12 with mild ventriculomegaly. Fetuses with different diagnoses were compared group-wise after age-matching.

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Objective: To determine the association between isolated mid-trimester short fetal femur length and adverse perinatal outcome.

Methods: This is a retrospective cohort study of patients with singleton gestations routinely assessed by second trimester ultrasound examination during 2006-2013. A fetal isolated short femur was defined as a femur length (FL) below the 5th percentile in a fetus with an abdominal circumference greater than the 10th percentile.

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Objective: To evaluate if isolated single umbilical artery (SUA) diagnosed on second-trimester ultrasound has an independent risk association with adverse pregnancy outcomes.

Study Design: We compared 136 singleton pregnancies with isolated SUA with 500 consecutive singleton pregnancies with a three-vessel cord (3 VC). Pregnancies complicated by chromosomal abnormalities and other congenital malformations were excluded.

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Objectives: In cases of "spina bifida," a detailed prenatal imaging assessment of the exact morphology of neural tube defects (NTD) is often limited. Due to the diverse clinical prognosis and prenatal treatment options, imaging parameters that support the prenatal differentiation between open and closed neural tube defects (ONTDs and CNTDs) are required. This fetal MR study aims to evaluate the clivus-supraocciput angle (CSA) and the maximum transverse diameter of the posterior fossa (TDPF) as morphometric parameters to aid in the reliable diagnosis of either ONTDs or CNTDs.

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