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OBJECTIVES: To assess the reproducibility of radiomics features extracted from the developing lung in repeated in-vivo fetal MRI acquisitions. METHODS: In-vivo MRI (1.5 Tesla) scans of 30 fetuses, each including two axial and one coronal T2-weighted sequences of the whole lung with all other acquisition parameters kept constant, were retrospectively identified. Manual segmentation of the lungs was performed using ITK-Snap. One hundred radiomics features were extracted from fetal lung MRI data using Pyradiomics, resulting in 90 datasets. Intra-class correlation coefficients (ICC) of radiomics features were calculated between baseline and repeat axial acquisitions and between baseline axial and coronal acquisitions. RESULTS: MRI data of 30 fetuses (12 [40%] females, 18 [60%] males) at a median gestational age of 24 + 5 gestational weeks plus days (GW) (interquartile range [IQR] 3 + 3 GW, range 21 + 1 to 32 + 6 GW) were included. Median ICC of radiomics features between baseline and repeat axial MR acquisitions was 0.92 (IQR 0.13, range 0.33 to 1), with 60 features exhibiting excellent (ICC > 0.9), 27 good (> 0.75-0.9), twelve moderate (0.5-0.75), and one poor (ICC < 0.5) reproducibility. Median ICC of radiomics features between baseline axial and coronal MR acquisitions was 0.79 (IQR 0.15, range 0.2 to 1), with 20 features exhibiting excellent, 47 good, 29 moderate, and four poor reproducibility. CONCLUSION: Standardized in-vivo fetal MRI allows reproducible extraction of lung radiomics features. In the future, radiomics analysis may improve diagnostic and prognostic yield of fetal MRI in normal and pathologic lung development. KEY POINTS: ⢠Non-invasive fetal MRI acquired using a standardized protocol allows reproducible extraction of radiomics features from the developing lung for objective tissue characterization. ⢠Alteration of imaging plane between fetal MRI acquisitions has a negative impact on lung radiomics feature reproducibility. ⢠Fetal MRI radiomics features reflecting the microstructure and shape of the fetal lung could complement observed-to-expected lung volume in the prediction of postnatal outcome and optimal treatment of fetuses with abnormal lung development in the future.
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Pulmão , Imageamento por Ressonância Magnética , Masculino , Feminino , Humanos , Lactente , Estudos Retrospectivos , Reprodutibilidade dos Testes , Imageamento por Ressonância Magnética/métodos , Pulmão/diagnóstico por imagem , Feto/diagnóstico por imagemRESUMO
BACKGROUND: Congenital heart disease is associated with an increased risk of smaller brain volumes and structural brain damage, and impaired growth of supratentorial brain structures in utero has been linked to poor neurodevelopmental outcomes. However, little is known on brainstem and cerebellar volumes in fetuses with congenital heart disease. Moreover, it is not clear whether impaired infratentorial growth, if present, is associated with only certain types of fetal cardiac defects or with supratentorial brain growth, and whether altered biometry is already present before the third trimester. OBJECTIVE: This study aimed to investigate brainstem and cerebellar volumes in fetuses with congenital heart disease and to compare them to infratentorial brain volumes in fetuses with normal hearts. Secondarily, the study aimed to identify associations between infratentorial brain biometry and the type of cardiac defects, supratentorial brain volumes, and gestational age. STUDY DESIGN: In this retrospective case-control study, 141 magnetic resonance imaging studies of 135 fetuses with congenital heart disease and 141 magnetic resonance imaging studies of 125 controls with normal hearts at 20 to 37 gestational weeks (median, 25 weeks) were evaluated. All cases and controls had normal birthweight and no evidence of structural brain disease or genetic syndrome. Six types of congenital heart disease were included: tetralogy of Fallot (n=32); double-outlet right ventricle (n=22); transposition of the great arteries (n=27); aortic obstruction (n=24); hypoplastic left heart syndrome (n=22); and hypoplastic right heart syndrome (n=14). First, brainstem and cerebellar volumes of each fetus were segmented and compared between cases and controls. In addition, transverse cerebellar diameters, vermian areas, and supratentorial brain and cerebrospinal fluid volumes were quantified and differences assessed between cases and controls. Volumetric differences were further analyzed according to types of cardiac defects and supratentorial brain volumes. Finally, volume ratios were created for each brain structure ([volume in fetus with congenital heart disease/respective volume in control fetus] × 100) and correlated to gestational age. RESULTS: Brainstem (cases, 2.1 cm3 vs controls, 2.4 cm3; P<.001) and cerebellar (cases, 3.2 cm3 vs controls, 3.4 cm3; P<.001) volumes were smaller in fetuses with congenital heart disease than in controls, whereas transverse cerebellar diameters (P=.681) and vermian areas (P=.947) did not differ between groups. Brainstem and cerebellar volumes differed between types of cardiac defects. Overall, the volume ratio of cases to controls was 80.8% for the brainstem, 90.5% for the cerebellum, and 90.1% for the supratentorial brain. Fetuses with tetralogy of Fallot and transposition of the great arteries were most severely affected by total brain volume reduction. Gestational age had no effect on volume ratios. CONCLUSION: The volume of the infratentorial brain, which contains structures considered crucial to brain function, is significantly smaller in fetuses with congenital heart disease than in controls from midgestation onward. These findings suggest that impaired growth of both supra- and infratentorial brain structures in fetuses with congenital heart disease occurs in the second trimester. Further research is needed to elucidate associations between fetal brain volumes and neurodevelopmental outcomes in congenital heart disease.
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Cardiopatias Congênitas , Tetralogia de Fallot , Transposição dos Grandes Vasos , Encéfalo/patologia , Tronco Encefálico/diagnóstico por imagem , Estudos de Casos e Controles , Cerebelo/diagnóstico por imagem , Feminino , Feto/patologia , Idade Gestacional , Cardiopatias Congênitas/complicações , Humanos , Imageamento por Ressonância Magnética/métodos , Gravidez , Estudos Retrospectivos , Tetralogia de Fallot/complicações , Tetralogia de Fallot/patologiaRESUMO
Knowledge about structural brain asymmetries of human fetuses with body lateralization defects-congenital diseases in which visceral organs are partially or completely incorrectly positioned-can improve our understanding of the developmental origins of hemispheric brain asymmetry. This study investigated structural brain asymmetry in 21 fetuses, which were diagnosed with different types of lateralization defects; 5 fetuses with ciliopathies and 26 age-matched healthy control cases, between 22 and 34 gestational weeks of age. For this purpose, a database of 4007 fetal magnetic resonance imagings (MRIs) was accessed and searched for the corresponding diagnoses. Specific temporal lobe brain asymmetry indices were quantified using in vivo, super-resolution-processed MR brain imaging data. Results revealed that the perisylvian fetal structural brain lateralization patterns and asymmetry indices did not differ between cases with lateralization defects, ciliopathies, and normal controls. Molecular mechanisms involved in the definition of the right/left body axis-including cilium-dependent lateralization processes-appear to occur independently from those involved in the early establishment of structural human brain asymmetries. Atypically inverted early structural brain asymmetries are similarly rare in individuals with lateralization defects and may have a complex, multifactorial, and neurodevelopmental background with currently unknown postnatal functional consequences.
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Encéfalo/anormalidades , Encéfalo/embriologia , Feto/anormalidades , Lateralidade Funcional/fisiologia , Adulto , Encéfalo/diagnóstico por imagem , Mapeamento Encefálico/métodos , Cílios/fisiologia , Estudos de Coortes , Feminino , Feto/diagnóstico por imagem , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Gravidez , Terminologia como AssuntoRESUMO
BACKGROUND: Postmortem confirmation of prenatally diagnosed congenital heart disease after termination of pregnancy and evaluation of potential cardiac defects after spontaneous fetal or neonatal death are essential. Conventional autopsy rates are decreasing, and 1.5Tesla magnetic resonance imaging has demonstrated limited diagnostic accuracy for postmortem cardiovascular assessment. OBJECTIVE: This study aimed to evaluate the feasibility and image quality of cardiac 3Tesla postmortem magnetic resonance imaging and to assess its diagnostic accuracy in detecting fetal heart defects compared with conventional autopsy. Secondarily, the study aimed to explore whether clinical factors affect the quality of 3Tesla postmortem magnetic resonance imaging. STUDY DESIGN: A total of 222 consecutive fetuses between 12 and 41 weeks' gestation, who underwent 3Tesla postmortem magnetic resonance imaging and conventional autopsy after spontaneous death or termination of pregnancy for fetal malformations, were included. First, 3Tesla postmortem magnetic resonance imaging of each fetus was rated as diagnostic or nondiagnostic for fetal cardiac assessment by 2 independent raters. The image quality of individual cardiac structures was then further evaluated by visual grading analysis. Finally, the presence or absence of a congenital heart defect was assessed by 2 radiologists and compared with autopsy results. RESULTS: Overall, 87.8% of 3Tesla postmortem magnetic resonance imaging examinations were rated as diagnostic for the fetal heart. Diagnostic imaging rates of individual cardiac structures at 3Tesla postmortem magnetic resonance imaging ranged from 85.1% (atrioventricular valves) to 94.6% (pericardium), with an interrater agreement of 0.82 (0.78-0.86). Diagnostic imaging of the fetal aortic arch and the systemic veins at 3Tesla postmortem magnetic resonance imaging was possible from 12+5 weeks' gestation onward in 90.1% and 92.3% of cases, respectively. A total of 55 fetuses (24.8%) had at least 1 cardiac anomaly according to autopsy, 164 (73.9%) had a normal heart, and in 3 fetuses (1.4%), autopsy was nondiagnostic for the heart. Considering all examinations rated as diagnostic, 3Tesla postmortem magnetic resonance imaging provided high diagnostic accuracy for the detection of fetal congenital heart defects with a sensitivity of 87.8%, a specificity of 97.9%, and concordance with autopsy of 95.3%. 3Tesla postmortem magnetic resonance imaging was less accurate in young fetuses (<20 weeks compared with ≥20 weeks; P<.001), in fetuses with low birthweight (≤100 g compared with >100 g; P<.001), in cases after spontaneous fetal death (compared with other modes of death; P=.012), in cases with increasing latency between death and 3Tesla postmortem magnetic resonance imaging (P<.001), and in cases in which there was a high degree of maceration (maceration score of 3 compared with a score from 0 to 2; P=.004). CONCLUSION: Diagnostic 3Tesla postmortem magnetic resonance imaging assessment of the fetal heart is feasible in most fetuses from 12 weeks' gestation onward. In diagnostic images, sensitivity and, particularly, specificity in the detection of congenital heart disease are high compared with conventional autopsy. Owing to its high diagnostic accuracy, we suggest that 3Tesla postmortem magnetic resonance imaging may serve as a suitable imaging modality with which to direct a targeted conventional autopsy when pathology resources are limited or to provide a virtual autopsy when full autopsy is declined by the parents.
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Autopsia/métodos , Coração Fetal/diagnóstico por imagem , Feto/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Feminino , Morte Fetal , Coração Fetal/fisiologia , Cardiopatias Congênitas/patologia , Humanos , Recém-Nascido , Masculino , Morte Perinatal , Estudos Retrospectivos , Sensibilidade e Especificidade , Ultrassonografia Pré-NatalRESUMO
INTRODUCTION: Fetal tumors are rare and usually followed by poor outcome. We describe our single-center experience with fetal tumors evaluated by ultrasound and magnetic resonance imaging (MRI). Our aims were to evaluate mortality and morbidity including long-term outcome and to determine which ultrasound and MRI characteristics were helpful for pre- and perinatal management. MATERIAL AND METHODS: We conducted a retrospective analysis on prenatally diagnosed tumors between 1998 and 2018. Poor outcome included fetal or neonatal death and survival with serious illness. MRI addressed tumor morphology (sacrococcygeal teratomas), compromise of surrounding structures (head and neck tumors) and early depiction of brain alterations specific to tuberous sclerosis (rhabdomyomas). RESULTS: Of 68 pregnancies, 15 (22%) were terminated and eight children (8/53, 15%) died pre- or postnatally. Of the 45 survivors (45/68, 66%), 24 (24/45, 53%) were healthy, eight (8/45, 18%) had a minor illness and 13 (13/45, 29%) a serious illness. Diffusion- and T1-weighted MRI reliably predicted tumor morphology in teratomas. To detect head and neck tumors critical to airway obstruction, MRI was superior to ultrasound in delivery planning. Rhabdomyomas were frequently associated with tuberous sclerosis, regardless of their number or size in ultrasound; MRI could depict specific brain alterations from the early third trimester onwards. For several rare tumors, MRI provided critical differential diagnoses that could not be clearly displayed in ultrasound. CONCLUSIONS: The rate of survivors with serious long-term illness among fetuses with prenatal diagnosis of a tumor was high. MRI is specifically helpful for risk stratification in fetal teratomas and delivery planning in head and neck tumors.
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Doenças Fetais/diagnóstico por imagem , Imageamento por Ressonância Magnética , Neoplasias/diagnóstico por imagem , Ultrassonografia Pré-Natal , Feminino , Doenças Fetais/mortalidade , Doenças Fetais/terapia , Seguimentos , Humanos , Recém-Nascido , Masculino , Neoplasias/mortalidade , Neoplasias/terapia , Assistência Perinatal/métodos , Gravidez , Estudos Retrospectivos , Medição de Risco , Resultado do TratamentoRESUMO
N-Glycosylation plays a fundamental role in many biological processes. Human diamine oxidase (hDAO), required for histamine catabolism, has multiple N-glycosylation sites, but their roles, for example in DAO secretion, are unclear. We recently reported that the N-glycosylation sites Asn-168, Asn-538, and Asn-745 in recombinant hDAO (rhDAO) carry complex-type glycans, whereas Asn-110 carries only mammalian-atypical oligomannosidic glycans. Here, we show that Asn-110 in native hDAO from amniotic fluid and Caco-2 cells, DAO from porcine kidneys, and rhDAO produced in two different HEK293 cell lines is also consistently occupied by oligomannosidic glycans. Glycans at Asn-168 were predominantly sialylated with bi- to tetra-antennary branches, and Asn-538 and Asn-745 had similar complex-type glycans with some tissue- and cell line-specific variations. The related copper-containing amine oxidase human vascular adhesion protein-1 also exclusively displayed high-mannose glycosylation at Asn-137. X-ray structures revealed that the residues adjacent to Asn-110 and Asn-137 form a highly conserved hydrophobic cleft interacting with the core trisaccharide. Asn-110 replacement with Gln completely abrogated rhDAO secretion and caused retention in the endoplasmic reticulum. Mutations of Asn-168, Asn-538, and Asn-745 reduced rhDAO secretion by 13, 71, and 32%, respectively. Asn-538/745 double and Asn-168/538/745 triple substitutions reduced rhDAO secretion by 85 and 94%. Because of their locations in the DAO structure, Asn-538 and Asn-745 glycosylations might be important for efficient DAO dimer formation. These functional results are reflected in the high evolutionary conservation of all four glycosylation sites. Human DAO is abundant only in the gastrointestinal tract, kidney, and placenta, and glycosylation seems essential for reaching high enzyme expression levels in these tissues.
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Amina Oxidase (contendo Cobre)/metabolismo , Oligossacarídeos/química , Oligossacarídeos/metabolismo , Polissacarídeos/química , Polissacarídeos/metabolismo , Células CACO-2 , Cristalografia por Raios X , Glicosilação , Células HEK293 , Humanos , Dobramento de ProteínaRESUMO
OBJECTIVE: Prenatal imaging has identified alterations of brain growth in fetuses with congenital heart disease. However, little is known about the timing of altered brain development and its occurrence in specific congenital heart disease subgroups. This magnetic resonance imaging study aimed to identify early (median, 25 gestational weeks [GW]) changes in fetal total brain (TBV), gray matter (GMV), and subcortical brain (SBV) volumes in Tetralogy of Fallot (TOF) cases in utero. STUDY DESIGN: Fetal magnetic resonance imaging (1.5 Tesla) was performed in 24 fetuses who were diagnosed with TOF and 24 normal age-matched control fetuses (20-34 GW). TBV, GMV, SBV, intracranial cavity, cerebellar, ventricular, and external cerebrospinal fluid volumes were quantified by manual segmentation based on coronal T2-weighted sequences. Mixed model analyses of variance and t-tests were conducted to compare cases and control fetuses. RESULTS: TBV was significantly lower (P < .001) in early (<25 GW) and late TOF cases. Both GMV (P = .003) and SBV (P = .001) were affected. The GMV-to-SBV ratio declined in fetuses with TOF (P = .026). Compared with normal fetuses, ventricular volume was increased (P = .0048). External cerebrospinal fluid was enlarged in relation to head size (P < .001). Intracranial cavity volume (P = .314) and cerebellar volume (P = .074) were not significantly reduced in fetuses with TOF. CONCLUSION: TOF is associated with smaller volumes of gray and white matter and enlarged cerebrospinal fluid spaces. These changes are present at ≤25 GW and indicate altered fetal brain growth in this pathophysiologic entity during early stages of human brain development.
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Encéfalo/embriologia , Imageamento por Ressonância Magnética , Diagnóstico Pré-Natal , Tetralogia de Fallot/embriologia , Encéfalo/patologia , Estudos de Casos e Controles , Feminino , Humanos , Modelos Estatísticos , Gravidez , Diagnóstico Pré-Natal/métodos , Estudos Retrospectivos , Tetralogia de Fallot/patologiaRESUMO
OBJECTIVE: This study aims to evaluate the prevalence of congenital heart disease (CHD) in monochorionic (MC) twin pregnancies with and without twin-to-twin transfusion syndrome (TTTS) in an unselected cohort, which underwent prenatal and postnatal echocardiography. METHOD: This was a retrospective cohort study including 451 MC twin pregnancies between 2002 and 2012. Complete outcome data were available for 381 pregnancies. All patients had prenatal echocardiography, and postnatal echocardiography was performed in all newborns with symptoms or to follow-up on prenatal findings. Data from prenatal and postnatal echocardiography and autopsy were analyzed. The classification of Houyel et al. was used for structural CHD. RESULTS: Structural CHD was diagnosed in 5.5% of all MC twins (42/762). Twins with TTTS showed a significant higher rate of CHD than unaffected twins (9.3% vs 4.7%; p = 0.03). Prenatal detection rate of CHD was 48%. Most common abnormalities were ventricular septal defects (VSD) (2.1%) followed by anomalies of the ventricular outflow tracts (1.3%) in the overall population and VSD (2.9%) and anomalies of the great arteries (2.9%) in the group with TTTS. CONCLUSION: MC twin pregnancies show a high prevalence of structural CHD (5.5%), especially those affected by TTTS. A detailed prenatal and postnatal echocardiography could be considered in these pregnancies.
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Cardiomegalia/congênito , Cardiomiopatia Hipertrófica Familiar/etiologia , Transfusão Feto-Fetal/complicações , Adulto , Áustria/epidemiologia , Cardiomegalia/epidemiologia , Cardiomiopatia Hipertrófica Familiar/epidemiologia , Estudos de Coortes , Feminino , Transfusão Feto-Fetal/epidemiologia , Humanos , Gravidez , Prevalência , Estudos Retrospectivos , Gêmeos Monozigóticos , Adulto JovemRESUMO
Fetal dysrhythmias are common abnormalities, which can be categorized into three types: rhythm irregularities, tachyarrhythmias, and bradyarrhythmias. Fetal arrhythmias, especially in high-risk pregnancies, require special monitoring and treatment. The aim of this study was to assess the stillbirth and early and late neonatal mortality rates for pregnancies complicated by fetal dysrhythmias from one single tertiary referral center from 2000 to 2022. Of the 1018 fetuses with congenital heart disease, 157 (15.42%) were evaluated in this analysis. Seventy-four (46.7%) fetuses had bradyarrhythmias, 51 (32.5%) tachyarrhythmias, and 32 (20.4%) had rhythm irregularities. Additional structural heart defects were detected in 40 (25.3%) fetuses and extracardiac anomalies in 29 (18.4%) fetuses. Thirteen (8.2%) families opted for termination of the pregnancy. Eleven (7.6%), out of 144 continued pregnancies ended in spontaneous intrauterine fetal death (IUFD). Neonatal death was observed in nine cases (5.7%), whereas three (1.9%) died within the first 7 days of life. Although most intrauterine fetal deaths occurred in pregnancies with fetal bradyarrhythmia, neonatal death was observed more often in fetuses with tachyarrhythmia (8.5%). The presence of extracardiac anomalies, congenital heart disease (CHD), and Ro-antibodies are predictive factors for the occurrence of IUFD. Rhythm irregularities without any other risk factor do not present higher risks of adverse perinatal outcome.
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PURPOSE: To investigate the reproducibility of radiomics features extracted from two-dimensional regions of interest (2D ROIs) versus whole lung (3D) ROIs in repeated in-vivo fetal magnetic resonance imaging (MRI) acquisitions. METHODS: Thirty fetal MRI scans including two axial T2-weighted acquisitions of the lungs were analysed. 2D (lung at the level of the carina) and 3D (whole lung) ROIs were manually segmented using ITK-Snap. Ninety-five radiomics features were extracted from 2 and 3D ROIs in initial and repeat acquisitions using Pyradiomics. Radiomics feature intra-class correlation coefficients (ICC) were calculated between 2 and 3D ROIs in the initial acquisition, and between 2 and 3D ROIs in repeated acquisitions, respectively. RESULTS: MRI data of 11 (36.7%) female and 19 (63.3%) male fetuses acquired at a median 25 + 0 gestational weeks plus days (GW) (interquartile range [IQR] 23 + 4 - 27 + 0 GW) were assessed. Median radiomics feature ICC between 2 and 3D ROIs in the initial MRI acquisition was 0.733 (IQR 0.313-0.814, range 0.018-0.970). ICCs between radiomics features extracted using 3D ROIs in initial and repeat acquisitions (median 0.908 [IQR 0.824-0.929, range 0.335-0.996]) were significantly higher compared to 2D ROIs (0.771 [0.699-0.835, 0.048-0.965]) (p < 0.001). CONCLUSION: Fetal MRI radiomics features extracted from 3D whole lung segmentation masks showed significantly higher reproducibility across repeat acquisitions compared to 2D ROIs. Therefore, fetal MRI whole lung radiomics features are robust diagnostic and potentially prognostic tools in the image-based in-vivo quantitative assessment of lung development.
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Objective: Cardiac and extra-cardiac anomalies in 46 pre-natally diagnosed cases of heterotaxy were compared to post-natal anatomical patterns in order to reveal discordant findings. Second, the outcome of these fetuses was evaluated. Methods: Fetuses with heterotaxy, diagnosed in a tertiary referral centre, were analysed retrospectively. Based on the foetal abdominal situs view, right atrial isomerism (RAI) and left atrial isomerism (LAI) were defined as foetal sub-types. Post-natally, discordant anatomical patterns for broncho-pulmonary branching, atrial appendage morphology, and splenic status were further clarified with CT scans. In summary, the spectrum of pre-natally and post-natally detected cardiac and extra-cardiac anomalies is systematically reviewed. Necessary surgical interventions and mid-long-term outcomes were compared between the two sub-types in surviving infants. Results: A total of 46 fetuses with heterotaxy were included; LAI was diagnosed in 29 (63%) fetuses and RAI was diagnosed in 17 (37%) fetuses. Extra-cardiac anomalies were noted in 35% of fetuses. Seven out of the 29 fetuses (24%) with LAI had atrio-ventricular block (AVB) and four of these cases presented with hydrops. Twenty nine out of the 46 participating fetuses (63%) were live births, with 62% in the LAI group and 65% in the RAI group. Five fetuses were lost to follow-up. At the age of 1 year, the overall survival of live births [estimate (95% CI)] was 67% (48; 92%) in patients with LAI and 55% (32; 94%) in patients with RAI. At the age of 5 years, the estimates were 67% (48; 92%) in the LAI group and 46% (24-87%) in the RAI group. The median survival (first quartile; third quartile) was 11.1 (0.1; 14) years for patients with LAI and 1.3 (0.09; NA) years for patients with RAI. Of 17 children who had undergone cardiac surgery, five (29%) children achieved a bi-ventricular repair and 12 (70%) children achieved a uni-ventricular palliation. Three were primarily palliated, but converted to bi-ventricular thereafter. Foetal subtype definition of heterotaxy based on the abdominal situs and post-natal thoracic imaging studies showed a discordant pattern of broncho-pulmonary branching and atrial appendage anatomy in 40% of our live-born children. Conclusion: Heterotaxy is a rare and complex condition with significant morbidity and mortality related to severe cardiac and extra-cardiac associations. Accurate pre-natal diagnosis can help identify the fetuses at risk and allow for timely intervention in a multi-disciplinary setting. Further studies are warranted to shed light on the exact sub-type definition in fetuses with heterotaxy and the presence of discordant post-natal patterns.
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Fetal congenital heart disease (CHD) is often associated with chromosomal abnormalities. Our primary aim was to assess stillbirth and neonatal mortality rates for pregnancies complicated by trisomies 13, 18, and 21 in the presence of CHD, from a single tertiary referral center during 2000-2020 in a retrospective cohort study. The secondary aims were to investigate maternal morbidity in these pregnancies, and to study the gestational or neonatal age when mortality occurred. Inclusion criteria were the prenatal diagnosis of at least one structural CHD, together with prenatally diagnosed fetal trisomy 13, 18, or 21. One-hundred and sixty patients with fetal trisomy 13 (14.4%), fetal trisomy 18 (28.8%), and fetal trisomy 21 (56.9%) were evaluated. In total, 98 (61.3%) families opted for the termination of pregnancy (TOP). Of the remaining 62 (38.8%) pregnancies, 16 (25.8%) resulted in intrauterine fetal death/death during delivery. Ten out of twenty-one (47.6%) infants with trisomy 13 or 18 were born alive. The livebirth rate was 87.8% (36/41) for infants with trisomy 21. Early neonatal death was observed in nine (19.6%) infants. Thirty-one (86.1%) infants with trisomy 21 survived the first year of life. These data may be helpful for counseling affected parents when the decision to terminate or continue the pregnancy should be considered.
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OBJECTIVE: To investigate whether women with red blood cell (RBC)1 alloimmunization are more likely to experience bleeding complications during pregnancy or delivery than women without RBC alloimmunization. STUDY DESIGN: Retrospective study involving all singleton pregnancies affected by RBC alloimmunization and without pre-existing maternal bleeding disorders or placenta previa, from 1 July 1999 to 30 June 2019 ("cases"). Only bleedings not related to invasive procedures (amnio- or cordocenteses) were included. Patients who were already at increased risk of pre- or perinatal bleeding due to their medical history (pre-existing bleeding disorders, antithrombotic therapy), or known obstetrics parameters (placental abnormalities etc.) were not included a priori. Cases were compared to controls without RBC alloimmunization, matched for maternal age and body mass index, from the same tertiary referral center in Austria. RESULTS: 130 cases were compared to 130 controls. Cases had significantly more previous pregnancies and miscarriages and their newborns had lower birthweight and were more often transferred to the intensive care unit than newborns of controls. 18/130 (13.8%) cases, compared to 8/130 (6.2%) controls experienced any bleeding during pregnancy or delivery (p = 0.061). Bleeding most often happened during the third trimester (cases: 4.6% vs. controls 0.8%, p = 0.12) and during or after delivery (cases: 7.7% vs. controls: 4.6%, p = 0.168). Binary logistic regression for the prediction of any bleeding complication during pregnancy, delivery or postpartum revealed immunization against RBC antigens as the only independent contributor (p = 0.04). Age, smoking, or previous obstetric history had no influence on the likelihood of maternal bleeding complications. Neither RBC antibody specificity nor titers were predictive of maternal bleeding during pregnancy or delivery. CONCLUSION: Pregnancies affected by RBC alloimmunization might be at increased risk of maternal bleeding complications during pregnancy and delivery.
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Placenta Prévia , Placenta , Eritrócitos , Feminino , Humanos , Recém-Nascido , Idade Materna , Gravidez , Estudos RetrospectivosRESUMO
Trisomy 13, trisomy 18, and triploidy belong to the chromosomal abnormalities which are compatible with life, but which are also associated with a high rate of spontaneous abortion, intrauterine death, and a short life span. This study was conducted to analyze natural outcome after prenatal diagnosis of these disorders. Between January 1, 1999 and December 31, 2009, we investigated all amniocenteses and chorionic villus biopsies carried out at our department. All cases with fetal diagnosis of triploidy, trisomy 13, and 18 were analyzed, with a focus on cases with natural outcome. Overall, 83 (78%) cases of pregnancy termination and 24 (22%) patients with natural outcome (NO) were identified. The NO group included 15 cases of trisomy 18, six cases of triploidy, and three cases of trisomy 13. No case of triploidy was born alive. The live birth rate was 13% for trisomy 18 and 33% for trisomy 13. The three live-born infants with trisomy 13 and 18 died early after a maximum of 87 hr postpartum. Our data are consistent with the literature concerning outcome of triploidy, with none or only a few live births. Analyzes of trisomy 13 and 18 indicate a very short postnatal life span. Different study designs and diverse treatment strategies greatly affect the fetal and neonatal outcome of fetuses with triploidy, trisomy 13, and 18. More studies analyzing natural outcome after prenatal diagnosis of these chromosomal abnormalities are needed. Non-termination of these pregnancies remains an option, and specialists advising parents need accurate data for counseling.
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Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 18/genética , Resultado da Gravidez/genética , Diagnóstico Pré-Natal , Triploidia , Trissomia/diagnóstico , Aborto Induzido/estatística & dados numéricos , Adulto , Amniocentese , Coeficiente de Natalidade , Amostra da Vilosidade Coriônica/estatística & dados numéricos , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/mortalidade , Cromossomos Humanos Par 13/genética , Feminino , Morte Fetal/genética , Idade Gestacional , Humanos , Recém-Nascido , Cariótipo , Masculino , Pessoa de Meia-Idade , Gravidez , Trissomia/genética , Síndrome da Trissomia do Cromossomo 13 , Adulto JovemRESUMO
Although fetal tachyarrhythmias are relatively rare, they are an important causes of fetal morbidity and mortality. We report a 30-week pregnant woman with fetal tachycardia, fetal hydrops and ascites. Fetal heart rate was 230 bpm. Fetal heart rate was 230 bpm. M-mode echocardiography revealed a tachycardia with a 1:1 relationship between atrial and ventricular conduction and a short time interval between ventricular and atrial contraction. These findings suggested a diagnosis of atrioventricular re-entrant tachycardia. On the third day digoxin treatment, the fetal heart rate was still 225 bpm with a 1:1 relationship between atrial and ventricular conduction. At this time, no flow across the foramen ovale was detected. Functional closure of the foramen ovale was suspected.
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Cardiomiopatias/diagnóstico por imagem , Ecocardiografia , Doenças Fetais/diagnóstico por imagem , Forame Oval Patente/diagnóstico por imagem , Taquicardia por Reentrada no Nó Atrioventricular/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Cesárea , Feminino , Seguimentos , Humanos , Hidropisia Fetal/diagnóstico por imagem , Lactente , Recém-Nascido , Derrame Pericárdico/diagnóstico por imagem , Gravidez , Terceiro Trimestre da Gravidez , Choque Cardiogênico/diagnóstico por imagem , Ultrassonografia Doppler , Disfunção Ventricular Esquerda/diagnóstico por imagemRESUMO
BACKGROUND: Prenatally diagnosed pericardial teratoma present a rare finding with an unfavourable prognosis due to frequently associated Foetal hydrops and limited treatment options. We report a successful surgical resection of a prenatally diagnosed cardiac teratoma in a 1160 g neonate with severe Foetal hydrops and cardiac deterioration. CASE SUMMARY: The patient was transferred in utero to our institution due to prior diagnosed pericardial mass and severe foetal hydrops, which necessitated caesarean section one day after arrival at a gestational age of 28 + 0 weeks. After intubation, the patient was stabilized by surgical drainage of 60 mL of pericardial effusion. Further clinical worsening of the patient on the day of life 12 demanded urgent intervention, so that in toto resection of the tumour was performed at a bodyweight of 1160 g. Histopathological analysis revealed a teratoma and the patient is in excellent clinical condition one year after surgery. DISCUSSION: This case report demonstrates that an interdisciplinary, two-staged approach can be a feasible and promising treatment option in patients with prenatally diagnosed teratoma and severe Foetal hydrops in a critical circulatory state. Furthermore, it illustrated that resection of pericardial masses can be successfully performed at a bodyweight as low as 1160 g.
RESUMO
Limited data exist regarding the course of abnormally invasive placentation (AIP) (=placenta accreta spectrum (PAS)) during the 2nd and 3rd trimester, although this knowledge would be important for optimal patient care. In this retrospective single-center longitudinal cohort study, potential aggravation of AIP was evaluated in 37 patients with ultrasound (US) pictures stored on a minimum of two visits. Five raters, blinded to diagnosis and gestational age, judged the degree of AIP as recommended by the International Society for PAS. The probability of invasiveness was estimated as absent, low, intermediate, severe (0-3 points), the extent as absent, focal, diffuse (0-2 points), and the presence and appearance of each US-sign as absent, mild, severe (0-3 points). None of the 10 judged signs appeared more severe (p ≥ 0.41) with progressing pregnancy. Neither the number of positively scored US-signs (earlier scan; 6.14 ± 2.06, later scan; 5.94 ± 2.16; p = 0.28), nor the estimated probability & extent of AIP rose (3.69 ± 1.15 vs. 3.67 ± 1.22; p = 1.0). Test-retest reliability corroborated excellent agreement between visits (mean number of positive US-signs ICC (3,1) = 0.94, 95% CI 0.91-0.97; p < 0.0001). Overall, there was no clinically detectable increase in invasiveness over the course of the 2nd and 3rd trimester. This should be further evaluated in prospective studies.
RESUMO
BACKGROUND: Knowledge about extracardiac anomalies (ECA) in fetal congenital heart disease (CHD) can improve our understanding of the developmental origins of various outcomes in these infants. The prevalence and spectrum of ECA, including structural brain anomalies (SBA), on magnetic resonance imaging (MRI) in fetuses with different types of CHD and at different gestational ages, is unknown. OBJECTIVES: The purpose of this study was to evaluate ECA rates and types on MRI in fetuses with different types of CHD and across gestation. METHODS: A total of 429 consecutive fetuses with CHD and MRI between 17 and 38 gestational weeks were evaluated. ECA and SBA rates were assessed for each type of CHD and classified by gestational age (<25 or ≥25 weeks) at MRI. RESULTS: Of all 429 fetuses with CHD, 243 (56.6%) had ECA on MRI, and 109 (25.4%) had SBA. Among the 191 fetuses with normal genetic testing results, the ECA rate was 54.5% and the SBA rate 19.4%. Besides SBA, extrafetal (21.2%) and urogenital anomalies (10.7%) were the most prevalent ECA on MRI in all types of CHD. Predominant SBA were anomalies of hindbrain-midbrain (11.0% of all CHD), dorsal prosencephalon (10.0%) development, and abnormal cerebrospinal fluid spaces (10.5%). There was no difference in the prevalence or pattern of ECA between early (<25 weeks; 45.7%) and late (≥25 weeks; 54.3%) fetal MRI. CONCLUSIONS: ECA and SBA rates on fetal MRI are high across all types of CHD studied, and ECA as well as SBA are already present from midgestation onward.
Assuntos
Doenças Fetais/diagnóstico , Coração Fetal/anormalidades , Cardiopatias Congênitas/embriologia , Imagem Cinética por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Feminino , Coração Fetal/diagnóstico por imagem , Coração Fetal/embriologia , Seguimentos , Idade Gestacional , Cardiopatias Congênitas/diagnóstico , Humanos , Gravidez , Estudos ProspectivosRESUMO
Previous reports suggest that massive hormonal changes that accompany the peripartum period may trigger perinatal depression. We investigated the relationship between magnitude of change and total level of estrogen and progesterone and grade of peripartal depression and depressive symptoms. One hundred and ninety two women were assessed in the 38th week of pregnancy (SDS scores), peripartum period (DSM-III-R diagnosis (n=105); SDS scores) and 6 months postpartum (EPDS; n=89) regarding diagnosis of depression, self-ratings of depressive symptoms and levels of estrogen and progesterone. The comparison of three diagnostic groups (lifetime major depressive disorder MDD (N=7), MDD at birth (N=12), healthy controls (N=70) showed that there were no differences in the magnitude of decline of estrogen and progesterone from day 1 to day 3 after birth . With respect to total levels of estrogen and progesterone, estrogen on day 3 was significantly higher [F(2,92)=6.6, p<0.05] in women with current MDD than in those with lifetime MDD or normal controls. Depression scores were significantly higher at the end of pregnancy (12.6% self-identified as depressed) than in postpartum period (5.8% day 3 p<.0004; 9.2% day 5 p<.008), whereas 13.3% of women received a DSM-III -R diagnosis for MDD 5 days postpartum. The results were in contrast to the current hypotheses of estrogen withdrawal or hypogonadal levels as an etiological factor for peripartum depression. But a limitation of the actual study is the low number of subjects with depression; therefore the current non-significant findings should be interpreted with great caution.
Assuntos
Depressão Pós-Parto/sangue , Estrogênios/sangue , Progestinas/sangue , Adolescente , Adulto , Análise de Variância , Feminino , Humanos , Escalas de Graduação Psiquiátrica , Fatores de TempoRESUMO
Normal fetal brain maturation can be studied by in vivo magnetic resonance imaging (MRI) from the 18th gestational week (GW) to term, and relies primarily on T2-weighted and diffusion-weighted (DW) sequences. These maturational changes must be interpreted with a knowledge of the histological background and the temporal course of the respective developmental steps. In addition, MR presentation of developing and transient structures must be considered. Signal changes associated with maturational processes can mainly be ascribed to the following changes in tissue composition and organization, which occur at the histological level: (1) a decrease in water content and increasing cell-density can be recognized as a shortening of T1- and T2-relaxation times, leading to increased T1-weighted and decreased T2-weighted intensity, respectively; (2) the arrangement of microanatomical structures to create a symmetrical or asymmetrical environment, leading to structural differences that may be demonstrated by DW-anisotropy; (3) changes in non-structural qualities, such as the onset of a membrane potential in premyelinating axons. The latter process also influences the appearance of a structure on DW sequences. Thus, we will review the in vivo MR appearance of different maturational states of the fetal brain and relate these maturational states to anatomical, histological, and in vitro MRI data. Then, the development of the cerebral cortex, white matter, temporal lobe, and cerebellum will be reviewed, and the MR appearance of transient structures of the fetal brain will be shown. Emphasis will be placed on the appearance of the different structures with the various sequences. In addition, the possible utility of dynamic fetal sequences in assessing spontaneous fetal movements is discussed.