Publications by authors named "E Krampl-Bettelheim"
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.
Introduction: This study aimed to assess the visibility of the indusium griseum (IG) in magnetic resonance (MR) scans of the human fetal brain and to evaluate its reliability as an imaging biomarker of the normality of brain midline development.
Material And Methods: The retrospective observational study encompassed T2-w 3T MR images from 90 post-mortem fetal brains and immunohistochemical sections from 41 fetal brains (16-40 gestational weeks) without cerebral pathology. Three raters independently inspected and evaluated the visibility of IG in post-mortem and in vivo MR scans.
This case report presents a patient with a monochorionic twin pregnancy, development of twin-twin transfusion-syndrome (TTTS) and polymicrogyria (PMG) of one fetus. Due to TTTS grade 3, fetoscopic laser ablation was performed at gestational week 16+1. Sonographic follow-up showed a cortical malformation of the right parietal lobe in the former donor, which was identified as PMG by MRI scans.
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- Fetal growth restriction (FGR) is linked to higher risks of stillbirth and developmental issues, making early prediction important for better treatment options and outcomes.
- A study analyzed 1,930 singleton pregnancies with low estimated fetal weight and found that lower levels of pregnancy-associated plasma protein A (PAPP-A) and higher uterine artery Doppler pulsatility index are associated with FGR.
- The results suggest that monitoring PAPP-A and pulsatility index in the first trimester can help predict cases of FGR, potentially leading to improved care for affected pregnancies.
Prenatal alcohol exposure (PAE) can change the normal trajectory of human fetal brain development and may lead to long-lasting neurodevelopmental changes in the form of fetal alcohol spectrum disorders. Currently, early prenatal patterns of alcohol-related central nervous system changes are unclear and it is unknown if small amounts of PAE may result in early detectable brain anomalies. This super-resolution fetal magnetic resonance imaging (MRI) study aimed to identify regional effects of PAE on human brain structure.
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