The increasing availability of chromosomal microarray (CMA), exome and genome analysis for prenatal diagnostic testing, together with concerns of potential legal consequences in cases of missed diagnoses, has contributed to substantial uncertainty in prenatal medicine. To support consistent and clinically meaningful use of genetic diagnostics in Austria, the working group for prenatal genetic diagnostics reviewed existing guidelines and recommendations and agreed on a consensus addressing eight key questions arising from clinical practice. Given the limited predictive value of genomic findings in structurally normal fetuses, the working group recommends a strictly phenotype-driven diagnostic approach with CMA, exome and genome analysis to be systematically offered in the presence of fetal pathologies.

Background In utero stenting of the atrial septum has been introduced for fetuses with hypoplastic left heart syndrome (HLHS) and intact atrial septum (IAS) to prevent secondary pulmonary vascular damage caused by left atrial hypertension. Previous reports revealed a high risk of significant or complete in-stent obstruction after successful intervention due to endothelial proliferation. Case Summary We report a fetus with HLHS and IAS complicated by nutmeg lung who underwent successful fetal atrial septal stenting using an everolimus-eluting stent (Xience Sierra; Abbott). The procedure resulted in immediate left atrial decompression and maintained an unrestrictive interatrial communication until delivery. Discussion The use of a drug-eluting stent resulted in sustained stent patency without evidence of endothelial overgrowth and without detectable systemic adverse effects in the fetus. Take-Home Message In utero use of an everolimus-eluting stent appears safe and may reduce the risk of in-stent obstruction in fetuses with HLHS and IAS.

4D (3D over time) fetal heart reconstruction improves detection and functional assessment of congenital malformations compared with 2D methods, but remains challenging due to the lack of publicly available 4D echocardiography datasets, the burden of full 3D/4D annotations, and the computational cost of volumetric networks. To address these challenges, we introduce a 2.5D radial-slicing paradigm that converts 3D volumes into a set of angularly structured long-axis slices, inducing a consistent U-shaped anatomical appearance that facilitates manual annotation and introduces an acquisition-induced angular symmetry as an effective inductive bias. Based on this slicing, we construct FeEcho4D, the first public benchmark for 4D fetal echocardiography (52 subjects, 1845 annotated volumes). Building on this inductive bias, we propose SCOPE-Net, a symmetry-consistent, prompt-enhanced segmentation network that encodes radial symmetry via novel learnable Flip-Consistent Radial Attention and Symmetry-induced Self-distillation through inter-slice augmentation invariance, enabling label-free representation-level self-supervision. Sparse radial segmentations are subsequently reconstructed into temporally coherent 3D meshes using graph-harmonic deformation, providing a geometry-aware alternative to volumetric segmentation and voxel-based surface extraction without requiring dense 3D annotations. Extensive experiments on FeEcho4D and the public MITEA dataset show that radial segmentation outperforms standard short-, long-axis, and volumetric views, while SCOPE-Net yields anatomically plausible 3D meshes over time. Our framework achieves an 88.8% correlation in ejection fraction, surpassing 3D volumetric segmentation (81.9%) and conventional 2D approaches (64.4%). These results indicate that geometry-aware 2.5D learning can outperform fully volumetric models for 4D fetal cardiac analysis, enabling accurate, efficient, and high-fidelity functional assessment without the need for dense 3D annotations. The FeEcho4D dataset and associated resources are publicly available at https://feecho4d.github.io/Website/.

Accurate reconstruction of three-dimensional (3D) fetal cardiac geometry from ultrasound is useful for assessing structural and functional development, yet remains challenging due to image sparsity, low contrast, and the high cost of dense 3D annotation. To address these limitations, we build upon our FeEcho4D dataset, a benchmark for fetal echocardiography, and present S2M-Net (Sparse Slice-to-Mesh Network), an end-to-end framework that reconstructs the left-ventricular myocardium mesh directly from sparse radial ultrasound slices without volumetric supervision. Each slice is encoded by a lightweight multi-view encoder, while a hybrid radial positional encoding and cross-slice transformer capture global angular dependencies and anatomical continuity. A geometric projection head predicts graph-harmonic basis coefficients and transformation parameters for differentiable mesh reconstruction. By leveraging radial sparsity and anatomical symmetry priors, S2M-Net produces anatomically consistent and topologically smooth 3D meshes with high efficiency. On the FeEcho4D dataset, the method achieves accurate 3D reconstruction, with a Dice score of 89.3% and an IoU of 80.8%. Further evaluations on FeEcho4D and MITEA show strong agreement with reference clinical measurements, with ejection fraction correlation coefficients of 82.6% and 75.0%, and global longitudinal strain correlations of 94.0% and 94.8%, respectively. These results demonstrate that S2M-Net captures physiologically meaningful cardiac deformation and provides a scalable and generalizable solution for ultrasound-based fetal heart modeling. Code is publicly available at https://github.com/QifengWang0702/S2M-Net.

Introduction:It is still difficult to predict the outcome of preeclampsia and determine the individual procedure with regards to the time of birth. Cut-offs of the sFlt-1/PlGF ratio with a high risk for imminent delivery have been previously published and analyzed by our study group, but could not be confirmed. The aim of the current study is to re-evaluate the described cut-off values again in a new period of time. Materials and Methods:We performed a retrospective analysis (IRB 1279/2020) including all preeclampsia patients delivering in our department over a 3-year period. Patients were divided into 2 groups - gestational week 24+0-33+6 with an s-Flt1/PlGF > 655.2 and 34+0-37+0 weeks with an sFlt-1/PlGF > 201 and were compared with preeclampsia patients of the same weeks with sFlt-1/PlGF values below the described cut-offs. Correlation between sFlt-1/PlGF ratio and time to delivery was assessed. Results:The association between sFlt-1/PlGF above the threshold and delivery within 48 h is significant for the high ratio early group (p < 0.01) but not for the high ratio late group (p = 0.62). In the early group, 60% of patients with sFlt-1/PlGF > 655.2 but only 8% in the low ratio group delivered within 48 h. In both the early and the late preeclampsia group, a high number of patients remained pregnant even though they showed elevated ratios. Conclusion:High sFlt-1/PlGF ratios seem to correlate with a shorter pregnancy duration to some extent. Nevertheless, not all patients need to be delivered within 48 h, so the decision should never be based on the laboratory test alone.

Introduction: Fetuses with hypoplastic left heart syndrome (HLHS) and intact atrial septum (IAS) have an overall poor prognosis and a high risk of neonatal death due to severe secondary lung damage. Intrauterine stenting of the atrial septum was introduced in these patients to enable survival. Case Presentation: We present a case of a HLHS fetus with IAS and signs of incipient nutmeg lung, in whom at 30 weeks gestation an atrial stent was successfully placed but continuously developed subtotal stent-obstruction over the next weeks. Conclusion: Continuous obstruction of placed atrial septum stents until delivery is possible and requires close monitoring of successfully treated fetuses.

Purpose To detect sonographic abnormalities of the supratentorial structures of the brain - future cavum septum pellucidum, cavum velum interpositum, third ventricle, ganglionic eminence and thalamus/hypothalamus - in fetuses with a crown-rump length of 45-84 mm in high-risk pregnancies. Materials and Methods This study presents the retrospective analysis of transvaginally recorded 3D volumes of the fetal brain of 64 fetuses whose mothers consulted our ambulatory department for fetomaternal medicine for organic and/or genetic changes of their fetuses at GW 12-14. For this study we selected fetuses with 3D volume blocks of the fetal brain at best sonographic quality enabling detailed analysis and measurement of the supratentorial brain structures to correlate the results with the results of genetic analysis, ultrasound controls in later weeks of pregnancy, and fetal outcome. Results Of 44 fetuses with genetic changes and 20 fetuses with syndromic changes, structural brain changes were found in 27 fetuses, analyzed by correlating the brain structures with the recently published structures of the brain at gestational week 12-14 in early pregnancy, presenting new details of early pathological brain development - migration disorders, milder variants of holoprosencephaly (lobar, MIH), corpus callosum agenesis, for the first time in early pregnancy. Conclusion Supratentorial defects of the brain can be detected and analyzed in GW 12-14 in detail by direct analysis of sonopathology and visualization of pathological measurements using transvaginal 3D sonography in high quality.

Introduction: Fetal cardiac interventions (FCIs) were introduced to change the natural history of some congenital heart defects. The aim of this study was to analyze the complications and management strategies associated with FCI at our institution. Methods: The local FCI database was retrospectively reviewed for all fetuses who underwent FCI in our center since 2000 regarding complications and fetal outcome. Results: 213 FCIs have been performed in 165 fetuses since October 2000: 60 with fetal pulmonary valvuloplasty, 4 with atrial septostomy, 7 with atrial septal stents, and 142 with fetal aortic valvuloplasty (FAV). The median gestational age at intervention was 27+1/7 weeks (21+4/7–38+3/7) for all interventions. The most common complications needing treatment were bradycardia (37%) and pericardial effusions (12%). FAV procedure-related mortality was significantly lower in the recent period since 2014 (14% early vs. 4% recent era, p = 0.03) due to a learning curve and improved management strategies. There were no relevant maternal complications. Premature deliveries occurred in 22.8% percent of all patients. Conclusions: Complications during FCI were frequent and must be expected. Strategies to reduce their prevalence as well as timely and correct treatment are mandatory to keep mortality rates low.

Objectives To show the development of the third ventricle, commissural plate, future cavum septi pellucidi, and cavum veli interpositi in weeks 12-14 by transvaginal 3D ultrasound. Methods This is a prospective transvaginal 3D study carried out to define the third ventricle and the diencephalic midline structures surrounding it. 93 of 387 fetuses in which the commissural plate with the future cavum septi pellucidi, cavum veli interpositi, and the roof of the third ventricle could be well visualized, were selected with the choroid plexus of the third ventricle and the pituitary gland serving as leading structures. In a small number of fetuses, the optic chiasm could also be displayed. In addition, the following measurements were performed: third ventricle craniocaudal and anteroposterior, roof of the third ventricle/cavum veli interpositi, and fcsp. Results The sonomorphologic characteristics of the commissural plate, the future cavum septi pellucidi, and the cavum veli interpositi are described IN 9% OF THE FETUSES examined. Measurements of the third ventricle, cavum veli interpositi, and the roof of the third ventricle show the following results: 3rd V cc = 3.895 + 0.091*CRL mm; 3rd V ap = 4.175 + 0.036*CRL mm; CVI ap = 2.223 + 0.029*CRL mm; CVI cc = 0.139 + 0.02*CRL mm. Conclusion Transvaginal neurosonography enables visualization and measurement of the normal fetal third ventricle at 12-14 weeks of gestation including visualization of the future cavum septi pellucidi and the cavum veli interpositi. BEFORE USE IN PATIENTS CAN BE CONSIDERED, FURTHER SCIENTIFIC WORK IS REQUIRED.

Objective: To demonstrate sonographic detectable abnormalities of the posterior fossa in fetuses with a crown-rump length of 45-84 mm in high-risk pregnancies. Methods: This was a prospective, observational study including 47 fetuses with known outcome, whose mothers attended our centers for first trimester tests and showed an abnormal first trimester ultrasound scan. In these fetuses, we examined transvaginal acquired three-dimensional volume blocks for abnormalities of the fetal posterior fossa. In these fetuses, the measurements of the cerebellar vermis (VE) and of the anterior membranous area (AMA) were compared with published reference ranges. Results: There were 8 fetuses with a ver-mian length below the 5th centile. In 5 of these fetuses, the AMA was also elongated and in 4 of these fetuses, pathology was confirmed. One case with a normal vermian length and normal AMA had a hypoplastic VE later on in the confirmatory test. Conclusion: Pathology of the posterior fossa can be directly diagnosed by assessing the VE and the AMA at the first trimester scan by examining transvaginal acquired volume blocks.

Abstract Background This case report is to show the details of the face of a very rare ethmocephaly at 14 weeks of gestation. Case presentation After the regular transabdominal two-dimensional (2D) scan for nuchal translucency we could describe the following malformations: holoprosencephaly, proboscis and an abnormal face, omphalocele containing bowel, hyperechoic kidneys and megacystis. In addition, we acquired transvaginal three-dimensional (3D) ultrasound volume blocks of the fetal head, scanned with different insonation angles and stored them for later analysis. Using the multiplanar mode the volume blocks taken from the front show all details of the face: proboscis, hypotelorism, microphthalmia, cleft palate, accelerated development of the frontal bones and premature closure of the metopic suture. The volume blocks taken through the squamosal suture show all details of the fossa posterior and brain: fused thalami surrounded by the typical monoventricle, normal brain stem, elongation of anterior membranous area. Render mode shows a precise 3D image of the face. To better demonstrate the changes of the fetal face a post-mortem photo of the fetal face is included. Conclusion This case report can demonstarte the typical changes of ethmocephaly in the first trimester using transvaginal 3D scan.

When a cytomegalovirus infection occurs within the first 16 weeks of pregnancy, leading to intrauterine transmission, it has severe implications for the fetus. The risk of a transplacental infection in the first trimester is 40 %, and 10–15 % of these infected children show symptoms after birth. 80 % of infected children suffer from severe impairment. We present a rare case of the infection of one fetus in a diamniotic-dichorionic twin pregnancy.

Objective: The study aimed to describe reference values for structures of the posterior fossa in fetuses with a crown-rump length (CRL) between 45 and 84 mm. Materials and Methods: This was a prospective, cross-sectional study including 216 normal appearing fetuses. In transvaginal acquired 3-dimensional volume blocks, the longest diameter of the vermis (VE), posterior membranous area (PMA), medulla-oblongata-pons angle (MOPA), diameters of the medulla oblongata (MO) and pons (PO), and the area of Blake’s pouch (BP) were measured. Polynomial or linear regression analysis were performed to calculate the mean, 5th and 95th centile according to CRL. In 20 fetuses, intra- and interobserver repeatability were calculated. Results: There is a curvilinear correlation between CRL and PO (PO [mean] = 1.3893 + 0.004356 × CRL + 0.000002610 × CRL3; SD = 1.6818 – 0.03765 × CRL + 0.000003831 × CRL3; R2 = 0.489); CRL and MO (MO [mean] = 1.5959–0.001905 × CRL + 0.000003362*CRL3; SD = –0.1417 + 0.005404 × CRL + 0.0000004988 × CRL3; R2 = 0.525); CRL and VE (VE [mean] = –0.3640 + 0.04302 × CRL+ 0.000001486 × CRL3; SD = 0.5854 – 0.004812 × CRL + 0.0000005896 × CRL3; R2 = 0.643); CRL and PMA (PMA [mean] = 0.6901 + 0.04307 × CRL – 0.0000008459 × CRL3; SD = –0.4232 + 0.02026 × CRL – 0.000001320 × CRL3; R2 = 0.272); CRL and BP (mm2; BP [mean] –12.2067 + 0.3334 × CRL – 0.00001262 × CRL3; SD = –1.6431 + 0.06380 × CRL+ 0.0000003257 × CRL3; R2 = 0.289). The relation between CRL and MOPA (°) is best described by a linear regression (MOPA [mean] = 79.6332 + 0.6122 × CRL; SD = 4.8453 + 0.07333 × CRL; R2 = 0.318). Conclusion: We provide reference values for anatomical structures of the posterior fossa of fetuses between 45 and 84 mm CRL. The established reference values might ease the diagnosis of fetal malformations in early pregnancy.

Eine 36-jährige Zweitgravida stellt sich mit einem – bei einem Routineorganscreening in der 20. SSW diagnostizierten – Herztumor von 21 × 25 × 28 mm vor. Die Schwangerschaft verlief bis dahin komplikationslos, das Ersttrimesterscreening war unauffällig.

To describe the sonographic appearance and temporal changes of the structures of the posterior cranial fossa in fetuses at a crown–rump length (CRL) between 45 and 84 mm in transvaginal acquired three‐dimensional volume blocks.