Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 37.442
Filtrar
2.
BMJ Case Rep ; 17(5)2024 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-38724211

RESUMEN

Placental mesenchymal dysplasia (PMD) is an exceptionally rare placental anomaly characterised by placentomegaly and grape-like vesicles resembling partial mole on ultrasonography, yet it can coexist with a viable fetus. We present the case of a primigravida who presented at 22 weeks gestation with a suspected partial mole but with a normally growing fetus. The differential diagnoses considered included placental mesenchymal disease, partial mole and twin pregnancy with molar pregnancy. With normal beta HCG levels and prenatal invasive testing reports, a probable diagnosis of PMD was made, and after thorough counselling, the decision was made to continue the pregnancy. The pregnancy progressed until 37 weeks, culminating in the uneventful delivery of a 2.4 kg healthy male infant. Histopathology confirmed PMD. Early recognition and management of PMD pose significant challenges, given its rarity. Prenatal identification of PMD during both early and late gestation could avert unnecessary termination of pregnancy.


Asunto(s)
Mola Hidatiforme , Enfermedades Placentarias , Placenta , Humanos , Embarazo , Femenino , Mola Hidatiforme/diagnóstico , Mola Hidatiforme/diagnóstico por imagen , Diagnóstico Diferencial , Enfermedades Placentarias/diagnóstico , Enfermedades Placentarias/diagnóstico por imagen , Placenta/patología , Placenta/diagnóstico por imagen , Adulto , Masculino , Recién Nacido , Ultrasonografía Prenatal , Resultado del Embarazo
3.
J Matern Fetal Neonatal Med ; 37(1): 2344089, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38710614

RESUMEN

OBJECTIVES: To explore the prenatal clinical utility of chromosome microarray analysis (CMA) for polyhydramnios and evaluate the short and long-term prognosis of fetuses with polyhydramnios. METHODS: A total of 600 singleton pregnancies with persistent polyhydramnios from 2014 to 2020 were retrospectively enrolled in this study. All cases received amniocentesis and were subjected to CMA results. All cases were categorized into two groups: isolated polyhydramnios and non-isolated polyhydramnios [with soft marker(s) or with sonographic structural anomalies]. All fetuses were followed up from 6 months to five years after amniocentesis to acquire short and long-term prognosis. RESULTS: The detection rates of either aneuploidy or pathogenic copy number variants in fetuses with non-isolated polyhydramnios were significantly higher than those with isolated polyhydramnios (5.0 vs. 1.5%, p = 0.0243; 3.6 vs. 0.8%, p = 0.0288). The detection rate of total chromosomal abnormalities in the structural abnormality group was significantly higher than that in the isolated group (10.0 vs. 2.3%, p = 0.0003). In the CMA-negative cases, the incidence of termination of pregnancy, neonatal and childhood death, and non-neurodevelopmental disorders in fetuses combined with structural anomalies was significantly higher than that in fetuses with isolated polyhydramnios (p < 0.05). We did not observe any difference in the prognosis between the isolated group and the combined group of ultrasound soft markers. In addition, the risk of postnatal neurodevelopmental disorders was also consistent among the three groups (1.6 vs. 1.3 vs. 1.8%). CONCLUSION: For low-risk pregnancies, invasive prenatal diagnosis of isolated polyhydramnios might be unnecessary. CMA should be considered for fetuses with structural anomalies. In CMA-negative cases, the prognosis of fetuses with isolated polyhydramnios was good, and polyhydramnios itself did not increase the risk of postnatal neurological development disorders. The worse prognosis mainly depends on the combination of polyhydramnios with structural abnormalities.


Asunto(s)
Aberraciones Cromosómicas , Análisis por Micromatrices , Polihidramnios , Resultado del Embarazo , Humanos , Femenino , Embarazo , Polihidramnios/genética , Polihidramnios/diagnóstico , Polihidramnios/epidemiología , Adulto , Estudios Retrospectivos , Aberraciones Cromosómicas/estadística & datos numéricos , Resultado del Embarazo/epidemiología , Diagnóstico Prenatal/métodos , Pronóstico , Amniocentesis/estadística & datos numéricos , Ultrasonografía Prenatal
4.
Sci Data ; 11(1): 436, 2024 May 02.
Artículo en Inglés | MEDLINE | ID: mdl-38698003

RESUMEN

During the process of labor, the intrapartum transperineal ultrasound examination serves as a valuable tool, allowing direct observation of the relative positional relationship between the pubic symphysis and fetal head (PSFH). Accurate assessment of fetal head descent and the prediction of the most suitable mode of delivery heavily rely on this relationship. However, achieving an objective and quantitative interpretation of the ultrasound images necessitates precise PSFH segmentation (PSFHS), a task that is both time-consuming and demanding. Integrating the potential of artificial intelligence (AI) in the field of medical ultrasound image segmentation, the development and evaluation of AI-based models rely significantly on access to comprehensive and meticulously annotated datasets. Unfortunately, publicly accessible datasets tailored for PSFHS are notably scarce. Bridging this critical gap, we introduce a PSFHS dataset comprising 1358 images, meticulously annotated at the pixel level. The annotation process adhered to standardized protocols and involved collaboration among medical experts. Remarkably, this dataset stands as the most expansive and comprehensive resource for PSFHS to date.


Asunto(s)
Inteligencia Artificial , Cabeza , Sínfisis Pubiana , Ultrasonografía Prenatal , Humanos , Sínfisis Pubiana/diagnóstico por imagen , Femenino , Embarazo , Cabeza/diagnóstico por imagen , Feto/diagnóstico por imagen
5.
Ultrasound Obstet Gynecol ; 63(5): 706-707, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38695203
6.
Ultrasound Obstet Gynecol ; 63(5): 708, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38695212
7.
Ultrasound Obstet Gynecol ; 63(5): 704-705, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38695219
9.
Comput Biol Med ; 175: 108501, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38703545

RESUMEN

The segmentation of the fetal head (FH) and pubic symphysis (PS) from intrapartum ultrasound images plays a pivotal role in monitoring labor progression and informing crucial clinical decisions. Achieving real-time segmentation with high accuracy on systems with limited hardware capabilities presents significant challenges. To address these challenges, we propose the real-time segmentation network (RTSeg-Net), a groundbreaking lightweight deep learning model that incorporates innovative distribution shifting convolutional blocks, tokenized multilayer perceptron blocks, and efficient feature fusion blocks. Designed for optimal computational efficiency, RTSeg-Net minimizes resource demand while significantly enhancing segmentation performance. Our comprehensive evaluation on two distinct intrapartum ultrasound image datasets reveals that RTSeg-Net achieves segmentation accuracy on par with more complex state-of-the-art networks, utilizing merely 1.86 M parameters-just 6 % of their hyperparameters-and operating seven times faster, achieving a remarkable rate of 31.13 frames per second on a Jetson Nano, a device known for its limited computing capacity. These achievements underscore RTSeg-Net's potential to provide accurate, real-time segmentation on low-power devices, broadening the scope for its application across various stages of labor. By facilitating real-time, accurate ultrasound image analysis on portable, low-cost devices, RTSeg-Net promises to revolutionize intrapartum monitoring, making sophisticated diagnostic tools accessible to a wider range of healthcare settings.


Asunto(s)
Cabeza , Sínfisis Pubiana , Ultrasonografía Prenatal , Humanos , Femenino , Embarazo , Cabeza/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Sínfisis Pubiana/diagnóstico por imagen , Aprendizaje Profundo , Feto/diagnóstico por imagen
10.
Cochrane Database Syst Rev ; 5: CD014715, 2024 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-38721874

RESUMEN

BACKGROUND: Prenatal ultrasound is widely used to screen for structural anomalies before birth. While this is traditionally done in the second trimester, there is an increasing use of first-trimester ultrasound for early detection of lethal and certain severe structural anomalies. OBJECTIVES: To evaluate the diagnostic accuracy of ultrasound in detecting fetal structural anomalies before 14 and 24 weeks' gestation in low-risk and unselected pregnant women and to compare the current two main prenatal screening approaches: a single second-trimester scan (single-stage screening) and a first- and second-trimester scan combined (two-stage screening) in terms of anomaly detection before 24 weeks' gestation. SEARCH METHODS: We searched MEDLINE, EMBASE, Science Citation Index Expanded (Web of Science), Social Sciences Citation Index (Web of Science), Arts & Humanities Citation Index and Emerging Sources Citation Index (Web of Science) from 1 January 1997 to 22 July 2022. We limited our search to studies published after 1997 and excluded animal studies, reviews and case reports. No further restrictions were applied. We also screened reference lists and citing articles of each of the included studies. SELECTION CRITERIA: Studies were eligible if they included low-risk or unselected pregnant women undergoing a first- and/or second-trimester fetal anomaly scan, conducted at 11 to 14 or 18 to 24 weeks' gestation, respectively. The reference standard was detection of anomalies at birth or postmortem. DATA COLLECTION AND ANALYSIS: Two review authors independently undertook study selection, quality assessment (QUADAS-2), data extraction and evaluation of the certainty of evidence (GRADE approach). We used univariate random-effects logistic regression models for the meta-analysis of sensitivity and specificity. MAIN RESULTS: Eighty-seven studies covering 7,057,859 fetuses (including 25,202 with structural anomalies) were included. No study was deemed low risk across all QUADAS-2 domains. Main methodological concerns included risk of bias in the reference standard domain and risk of partial verification. Applicability concerns were common in studies evaluating first-trimester scans and two-stage screening in terms of patient selection due to frequent recruitment from single tertiary centres without exclusion of referrals. We reported ultrasound accuracy for fetal structural anomalies overall, by severity, affected organ system and for 46 specific anomalies. Detection rates varied widely across categories, with the highest estimates of sensitivity for thoracic and abdominal wall anomalies and the lowest for gastrointestinal anomalies across all tests. The summary sensitivity of a first-trimester scan was 37.5% for detection of structural anomalies overall (95% confidence interval (CI) 31.1 to 44.3; low-certainty evidence) and 91.3% for lethal anomalies (95% CI 83.9 to 95.5; moderate-certainty evidence), with an overall specificity of 99.9% (95% CI 99.9 to 100; low-certainty evidence). Two-stage screening had a combined sensitivity of 83.8% (95% CI 74.7 to 90.1; low-certainty evidence), while single-stage screening had a sensitivity of 50.5% (95% CI 38.5 to 62.4; very low-certainty evidence). The specificity of two-stage screening was 99.9% (95% CI 99.7 to 100; low-certainty evidence) and for single-stage screening, it was 99.8% (95% CI 99.2 to 100; moderate-certainty evidence). Indirect comparisons suggested superiority of two-stage screening across all analyses regarding sensitivity, with no significant difference in specificity. However, the certainty of the evidence is very low due to the absence of direct comparisons. AUTHORS' CONCLUSIONS: A first-trimester scan has the potential to detect lethal and certain severe anomalies with high accuracy before 14 weeks' gestation, despite its limited overall sensitivity. Conversely, two-stage screening shows high accuracy in detecting most fetal structural anomalies before 24 weeks' gestation with high sensitivity and specificity. In a hypothetical cohort of 100,000 fetuses, the first-trimester scan is expected to correctly identify 113 out of 124 fetuses with lethal anomalies (91.3%) and 665 out of 1776 fetuses with any anomaly (37.5%). However, 79 false-positive diagnoses are anticipated among 98,224 fetuses (0.08%). Two-stage screening is expected to correctly identify 1448 out of 1776 cases of structural anomalies overall (83.8%), with 118 false positives (0.1%). In contrast, single-stage screening is expected to correctly identify 896 out of 1776 cases before 24 weeks' gestation (50.5%), with 205 false-positive diagnoses (0.2%). This represents a difference of 592 fewer correct identifications and 88 more false positives compared to two-stage screening. However, it is crucial to acknowledge the uncertainty surrounding the additional benefits of two-stage versus single-stage screening, as there are no studies directly comparing them. Moreover, the evidence supporting the accuracy of first-trimester ultrasound and two-stage screening approaches primarily originates from studies conducted in single tertiary care facilities, which restricts the generalisability of the results of this meta-analysis to the broader population.


Asunto(s)
Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Ultrasonografía Prenatal , Humanos , Femenino , Embarazo , Ultrasonografía Prenatal/estadística & datos numéricos , Sensibilidad y Especificidad , Sesgo , Anomalías Congénitas/diagnóstico por imagen
11.
Am J Case Rep ; 25: e942838, 2024 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-38584385

RESUMEN

BACKGROUND Maldevelopment of the fetal bowel can result in the rare condition of intestinal atresia, which results in congenital bowel obstruction. This report describes a case of prenatal diagnosis of fetal ileal atresia at 22 weeks' gestation. CASE REPORT Here, we present a 24-year old woman who was 22 weeks into her first pregnancy when she underwent routine fetal ultrasound. She was diagnosed with gestational diabetes mellitus. Her body mass index was normal and she had normal weight gain. The ultrasonographic examination performed revealed a hyperechoic bowel and a small dilatation of the bowel. The couple was counselled for possible intestinal atresia and its postnatal implications. At 33 weeks of gestation, polyhydramnios appeared, and the intestinal distension was much more pronounced, with hyperechoic debris in the intestinal lumen (succus-entericus). After birth, surgery was performed and we concluded the patient had type II atresia, which was surgically treated. CONCLUSIONS This report has highlighted the importance of antenatal ultrasound in detecting fetal abnormalities, and has shown that rare conditions such as intestinal atresia can be accurately diagnosed and successfully managed. Surgical correction, if implemented promptly after stabilizing the general condition, can have a relatively good prognosis. Coexisting fetal ileal atresia and gestational diabetes mellitus are rare occurrences, which can make each condition even more difficult to treat.


Asunto(s)
Diabetes Gestacional , Atresia Intestinal , Intestino Delgado/anomalías , Humanos , Femenino , Embarazo , Adulto Joven , Adulto , Diabetes Gestacional/diagnóstico , Atresia Intestinal/diagnóstico por imagen , Atresia Intestinal/cirugía , Intestino Delgado/diagnóstico por imagen , Diagnóstico Prenatal , Ultrasonografía Prenatal/métodos
12.
BMC Pregnancy Childbirth ; 24(1): 264, 2024 Apr 11.
Artículo en Inglés | MEDLINE | ID: mdl-38605306

RESUMEN

BACKGROUND: Maternal diabetes adversely affects fetal cardiovascular system development. Previous studies have reported that the fetuses of mothers with diabetes exhibit both structural and functional changes; nevertheless, prior studies have not examined the association between glucose control and fetal cardiac morphology and performance. Thus, the objective was to determine the association between fetal cardiac morphology and function and maternal glucose control in type 1 diabetes and to compare the differences in measured cardiac parameters between the fetuses of mothers with diabetes and healthy controls. METHODS: In this prospective, longitudinal case-control study - including 62 pregnant women with type 1 diabetes mellitus and 30 healthy pregnant women - fetal cardiac assessment using B-mode, M-mode, and spectral pulsed-wave Doppler was performed in the second and third trimesters. In women with T1DM, glycated hemoglobin and data obtained from glucose sensors - including the percentage of time in, below, and above the range (TIR, TBR, and TAR, respectively), and coefficient of variation (CV) - were analyzed across three time periods: the last menstrual period to 13 (V1), 14-22 (V2), and 23-32 weeks (V3) of gestation. Fetal cardiac indices were compared between groups, and the correlation between glucose control and fetal cardiac indices was assessed. RESULTS: At 28-32 weeks, the fetuses of women with T1DM exhibited increased left ventricular end-diastolic length, relative interventricular septum thickness, right ventricular cardiac output, and pulmonary valve peak systolic velocity compared with healthy controls. At 18-22 weeks, pulmonary and aortic valve diameters, left and right ventricular stroke volumes, and left cardiac output inversely correlated with the CV and glycated hemoglobin levels at V1 and V2. Furthermore, at 28-32 weeks, pulmonary and aortic valve diameters, left ventricular stroke volume, cardiac output, and right/left atrioventricular valve ratio inversely correlated with the TBR at V1, V2, and V3. Moreover, diastolic functional parameters correlated with the TAR and glycated hemoglobin levels, particularly after the first trimester. CONCLUSION: In women with T1DM, maternal hyperglycemia during pregnancy correlates with fetal diastolic function, whereas glucose variability and hypoglycemia inversely correlate with fetal left ventricular systolic function in the second and third trimesters.


Asunto(s)
Diabetes Mellitus Tipo 1 , Diabetes Gestacional , Síndrome de Nijmegen , Embarazo , Humanos , Femenino , Diabetes Mellitus Tipo 1/complicaciones , Ecocardiografía Doppler , Glucemia , Hemoglobina Glucada , Estudios Prospectivos , Estudios de Casos y Controles , Estudios Longitudinales , Corazón Fetal/diagnóstico por imagen , Hemodinámica , Ultrasonografía Prenatal
13.
J Int Med Res ; 52(4): 3000605241244763, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38656272

RESUMEN

A high systolic/diastolic (S/D) ratio of umbilical cord blood is a manifestation of intrauterine hypoxia. However, the clinical significance of a persistently decreased S/D ratio of umbilical cord blood has not been reported. We report eight cases of a persistently decreased S/D ratio of umbilical cord blood, with two cases of umbilical thrombus, five cases of excessive torsion, and one case of a true cord knot. Fetuses with a persistently decreased S/D ratio of umbilical cord blood may be at risk, and it may be an important indication of umbilical cord lesions.


Asunto(s)
Diástole , Sangre Fetal , Cordón Umbilical , Adulto , Femenino , Humanos , Masculino , Embarazo , Hipoxia Fetal/diagnóstico , Hipoxia Fetal/fisiopatología , Sístole/fisiología , Trombosis/diagnóstico , Ultrasonografía Prenatal , Cordón Umbilical/patología
14.
Prenat Diagn ; 44(5): 614-622, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38578615

RESUMEN

OBJECTIVE: To examine parental experiences during pregnancies affected by Arthrogryposis Multiplex Congenita (AMC) by identifying commonalities, risk factors, and areas for improvement in detection rates, care protocols, and patient experience. STUDY DESIGN: An online survey was distributed via AMC support groups on Facebook. Topics included demographics, risk factors, parental recall of sonographic findings, delivery characteristics and neonatal findings. Responses were divided into antenatally detected cases (ADCs) and postnatally detected cases (PDCs). Quantitative responses were analyzed with the Fisher exact test. Qualitative data were analyzed with thematic analysis. RESULTS: The antenatal detection rate of arthrogryposis was 37%. Decreased fetal movement was reported by 53% and early bleeding by 21%. Sonographic findings in ADCs included clubfoot (83%), clenched hand (51%), decreased fetal movement (50%), elbow contracture (51%), and knee contracture (46%). Among ADCs, 29% delivered vaginally and 71% delivered by cesarean versus PDCs (44% vaginal, 56% cesarean). Neonatal intensive care unit admission rate was 63%. Bone fracture occurred in 9%. Detection led to a planned change in delivery mode in 33% and location in 50%. Among ADCs, 17% felt their concerns were not adequately addressed versus 43% of PDCs. CONCLUSIONS: Antenatal detection of arthrogryposis was low. We propose enhanced screening criteria to aid prenatal diagnosis and promote utilization of more robust practice guidelines.


Asunto(s)
Artrogriposis , Padres , Humanos , Artrogriposis/diagnóstico , Artrogriposis/epidemiología , Femenino , Embarazo , Estudios Retrospectivos , Padres/psicología , Diagnóstico Prenatal/métodos , Diagnóstico Prenatal/estadística & datos numéricos , Diagnóstico Prenatal/psicología , Adulto , Encuestas y Cuestionarios , Recién Nacido , Ultrasonografía Prenatal/estadística & datos numéricos
15.
PLoS One ; 19(4): e0298365, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38648215

RESUMEN

BACKGROUND: Echogenic Intracardiac Foci (EIF) are non-structural markers identified during the routine 18-20-week foetal anomaly ultrasound scan yet their clinical significance on future outcomes for the infant is unclear. OBJECTIVE: To examine the association between EIF and risk of preterm birth, chromosomal abnormalities, and cardiac abnormalities. DESIGN: A review across four databases to identify English language journal articles of EIF using a cohort study design. All studies were reviewed for quality using the Critical Appraisal Skills Programme (CASP) checklist and data extracted for comparison and analysis. RESULTS: 19 papers from 9 different countries were included. Combining these studies showed 4.6% (95% CI = 4.55-4.65%) of all pregnancies had EIF which was on the left in 86% of cases, on the right in 3% of cases and bilaterally in 10%. There was no evidence that EIF was associated with higher rates of preterm birth. However, it is possible that infants with EIF were more likely to be terminated rather than be born preterm as there was a 2.1% (range 0.3-4.2%) rate of termination or death of the foetus after week 20 among those with EIF. There was no evidence that EIF alone is highly predictive of chromosomal abnormalities. There was evidence that EIF is associated with higher rates of minor cardiac abnormalities (e.g. ventricular septal defect, tricuspid regurgitation or mitral regurgitation)) with 5.1% (224 of 4385) of those with EIF showing cardiac abnormalities (3.08% in retrospective studies and 17.85% in prospective studies). However, the risk of cardiac defects was only higher with right-sided EIF and where the EIF persisted into the third trimester. However, this is a rare event and would be seen in an estimated 4 per 10,000 pregnancies. CONCLUSION: EIF alone was not associated with adverse outcomes for the infant. Only persistent EIF on the right side showed evidence of carrying a higher risk of cardiac abnormality and would warrant further follow-up.


Asunto(s)
Cardiopatías Congénitas , Segundo Trimestre del Embarazo , Ultrasonografía Prenatal , Femenino , Humanos , Embarazo , Aberraciones Cromosómicas , Cardiopatías Congénitas/diagnóstico por imagen , Resultado del Embarazo , Nacimiento Prematuro , Ultrasonografía Prenatal/métodos
16.
Sci Rep ; 14(1): 8894, 2024 04 17.
Artículo en Inglés | MEDLINE | ID: mdl-38632453

RESUMEN

To assess the diagnostic performance of three cardiothoracic (CT) ratio techniques, including diameter, circumference, and area, for predicting hemoglobin (Hb) Bart's disease between 17 and 22 weeks' gestation, and to create a multivariable scoring system using multiple ultrasound markers. Before invasive testing, three CT ratio techniques and other ultrasound markers were obtained in 151 singleton pregnancies at risk of Hb Bart's disease. CT diameter ratio demonstrated the highest sensitivity among the other techniques. Significant predictors included CT diameter ratio > 0.5, middle cerebral artery-peak systolic velocity (MCA-PSV) > 1.5 multiples of the median, and placental thickness > 3 cm. MCA-PSV exhibited the highest sensitivity (97.8%) in predicting affected fetuses. A multivariable scoring achieved excellent sensitivity (100%) and specificity (84.9%) for disease prediction. CT diameter ratio exhibited slightly outperforming the other techniques. Increased MCA-PSV was the most valuable ultrasound marker. Multivariable scoring surpassed single-parameter analysis in predictive capabilities.


Asunto(s)
Hemoglobinas Anormales , Talasemia alfa , Embarazo , Femenino , Humanos , Hidropesía Fetal , Placenta/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Talasemia alfa/diagnóstico , Biomarcadores
17.
BMC Pregnancy Childbirth ; 24(1): 288, 2024 Apr 18.
Artículo en Inglés | MEDLINE | ID: mdl-38637738

RESUMEN

BACKGROUND: Uniparental disomy is the inheritance of a homologous chromosome pair or part of homologous chromosomes from only one parent. However, the clinical significance of uniparental disomy and the difference among the prognosis of involvement of different chromosomes remain unclear. OBJECTIVE: To assess the associated prenatal ultrasound presentations and clinical outcomes of uniparental disomy on different chromosomes and to analyze the relationship between prenatal ultrasound markers and clinical outcomes. STUDY DESIGN: We retrospectively analyzed data from fetuses with uniparental disomy diagnosed using chromosome microarray analysis with the Affymetrix CytoScan HD array at our institution between January 2013 and September 2022. The relationship between prenatal ultrasound findings, the involved chromosome(s), and clinical outcomes was evaluated. RESULTS: During the study period, 36 fetuses with uniparental disomy were diagnosed, and two cases were excluded for non-available postnatal data. Finally, 34 fetuses were included in our study, of which 30 (88.2%) had uniparental disomy occurring on a single chromosome, while four (11.8%) were identified with uniparental disomy on different chromosomes. The most frequently involved chromosomes were chromosomes 16, X and 2, which presented in 8 (23.5%), 5 (14.7%) and 4 (11.8%), respectively. Prenatal ultrasound abnormalities were detected in 21 fetuses, with the most common category being multiple abnormalities (12 (57.1%)). Fetal growth restriction was identified in 14 (41.2%) fetuses, all of which coexisted with other abnormal findings. The rate of adverse perinatal outcomes in patients with uniparental disomy and fetal abnormalities was significantly higher than those without abnormalities (76.2% versus 15.4%, P = 0.002). The incidence of fetal or neonatal death was significantly higher in fetuses with fetal growth restriction than those without (85.7% versus 30.0%, P = 0.004). CONCLUSIONS: The prognosis of fetuses with uniparental disomy combined with fetal abnormalities, especially fetal growth restriction, was much poorer than those without.


Asunto(s)
Anomalías Múltiples , Disomía Uniparental , Femenino , Recién Nacido , Embarazo , Humanos , Disomía Uniparental/genética , Estudios Retrospectivos , Retardo del Crecimiento Fetal/genética , Ultrasonografía Prenatal , Diagnóstico Prenatal
18.
Sci Rep ; 14(1): 9013, 2024 04 19.
Artículo en Inglés | MEDLINE | ID: mdl-38641713

RESUMEN

Deep learning algorithms have demonstrated remarkable potential in clinical diagnostics, particularly in the field of medical imaging. In this study, we investigated the application of deep learning models in early detection of fetal kidney anomalies. To provide an enhanced interpretation of those models' predictions, we proposed an adapted two-class representation and developed a multi-class model interpretation approach for problems with more than two labels and variable hierarchical grouping of labels. Additionally, we employed the explainable AI (XAI) visualization tools Grad-CAM and HiResCAM, to gain insights into model predictions and identify reasons for misclassifications. The study dataset consisted of 969 ultrasound images from unique patients; 646 control images and 323 cases of kidney anomalies, including 259 cases of unilateral urinary tract dilation and 64 cases of unilateral multicystic dysplastic kidney. The best performing model achieved a cross-validated area under the ROC curve of 91.28% ± 0.52%, with an overall accuracy of 84.03% ± 0.76%, sensitivity of 77.39% ± 1.99%, and specificity of 87.35% ± 1.28%. Our findings emphasize the potential of deep learning models in predicting kidney anomalies from limited prenatal ultrasound imagery. The proposed adaptations in model representation and interpretation represent a novel solution to multi-class prediction problems.


Asunto(s)
Aprendizaje Profundo , Enfermedades Renales , Sistema Urinario , Embarazo , Femenino , Humanos , Ultrasonografía Prenatal/métodos , Diagnóstico Prenatal/métodos , Enfermedades Renales/diagnóstico por imagen , Sistema Urinario/anomalías
19.
Pediatr Cardiol ; 45(5): 1036-1047, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38570366

RESUMEN

To estimate if there is an association between partial AVSD with chromosomal abnormalities, cardiac and extracardiac malformations, and to report the outcomes of prenatally diagnosed AVSD in a large, contemporary cohort. This is a retrospective cohort study of 190 prenatally diagnosed fetal AVSD between 2014 and 2023. Type of AVSD (complete vs partial), additional cardiac findings, extracardiac findings, presence of a heterotaxy, results of prenatal karyotype, and pregnancy outcomes were documented and analyzed. A total of 190 cases of fetal AVSD were analyzed. Complete AVSDs comprised 141 (74.2%) of the cohort, while partial AVSDs comprised 49 (25.7%). Karyotype was completed in 131 cases, and in 98 (74.8%) cases chromosomal abnormalities were identified, with trisomy 21 being the most common (53/131, 40.5%). Complete AVSDs were associated with trisomy 21 (45.5%, p = 0.04), Isolated cases of complete AVSDs (p = 0.03). Partial AVSDs were associated with trisomy 18 (53.1%, p < 0.001). In cases of partial AVSDs with aneuploidies, 7 (70%) had an ostium primum defect and 20 (90.9%) of AV canal type VSD. Isolated partial AVSD had no clear association with aneuploidies. There were additional cardiac anomalies in 96 (50.5%) and extracardiac anomalies in 134 (70.5%) of the cohort. There were no differences between partial and complete AVSD in rate of additional cardiac and extracardiac anomalies. AVSD was part of a heterotaxy in 47 (24.7%) of cases, and heterotaxy was associated with complete AVSD in the majority of cases (43/47, 91.4%, p = 0.003). Fetal partial AVSDs are associated with trisomy 18. Fetal complete AVSDs, even isolated, are associated with trisomy 21. There were no differences in association of other aneuploidies, additional cardiac findings, or extracardiac anomalies between prenatally diagnosed complete AVSDs and partial AVSDs.


Asunto(s)
Aberraciones Cromosómicas , Síndrome de Down , Ultrasonografía Prenatal , Humanos , Femenino , Estudios Retrospectivos , Embarazo , Síndrome de Down/genética , Defectos de los Tabiques Cardíacos/genética , Adulto , Cariotipificación , Resultado del Embarazo , Diagnóstico Prenatal/métodos , Masculino , Cardiopatías Congénitas/genética
20.
Ultrason Imaging ; 46(3): 164-177, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38597330

RESUMEN

Three-dimensional (3D) ultrasonic imaging can enable post-facto plane of interest selection. It can be performed with devices such as wobbler probes, matrix probes, and sensor-based probes. Ultrasound systems that support 3D-imaging are expensive with added hardware complexity compared to 2D-imaging systems. An inertial measurement unit (IMU) can potentially be used for 3D-imaging by using it to track the motion of a one-dimensional array probe and constraining its motion in one degree of freedom (1-DoF) rotation (swept-fan). This work demonstrates the feasibility of an affordable IMU-assisted manual 3D-ultrasound scanner (IAM3US). A consumer-grade IMU-assisted 3D scanner prototype is designed with two support structures for swept-fan. After proper IMU calibration, an appropriate KF-based algorithm estimates the probe orientation during the swept-fan. An improved scanline-based reconstruction method is used for volume reconstruction. The evaluation of the IAM3US system is done by imaging a tennis ball filled with water and the head region of a fetal phantom. From fetal phantom reconstructed volumes, suitable 2D planes are extracted for biparietal diameter (BPD) manual measurements. Later, in-vivo data is collected. The novel contributions of this paper are (1) the application of a recently proposed algorithm for orientation estimation of swept-fan for 3D imaging, chosen based on the noise characteristics of selected consumer grade IMU (2) assessment of the quality of the 1-DoF swept-fan scan with a deflection detector along with monitoring of maximum angular rate during the scan and (3) two probe holder designs to aid the operator in performing the 1-DoF rotational motion and (4) end-to-end 3D-imaging system-integration. Phantom studies and preliminary in-vivo obstetric scans performed on two patients illustrate the usability of the system for diagnosis purposes.


Asunto(s)
Imagenología Tridimensional , Fantasmas de Imagen , Ultrasonografía , Imagenología Tridimensional/métodos , Humanos , Ultrasonografía/métodos , Algoritmos , Estudios de Factibilidad , Diseño de Equipo , Movimiento (Física) , Ultrasonografía Prenatal/métodos
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA