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OBJECTIVES: Accurate assessment of gestational age (GA) is important at both individual and population levels. The most accurate way to estimate GA in women who book late in pregnancy is unknown. The aim of this study was to externally validate the accuracy of equations for GA estimation in late pregnancy and to identify the best equation for estimating GA in women who do not receive an ultrasound scan until the second or third trimester. DESIGN: This was a prospective, observational cross-sectional study. SETTING: 57 prenatal care centres, France. PARTICIPANTS: Women with a singleton pregnancy and a previous 11-14-week dating scan that gave the observed GA were recruited over an 8-week period. They underwent a standardised ultrasound examination at one time point during the pregnancy (15-43 weeks), measuring 12 foetal biometric parameters that have previously been identified as useful for GA estimation. MAIN OUTCOME MEASURES: A total of 189 equations that estimate GA based on foetal biometry were examined and compared with GA estimation based on foetal CRL. Comparisons between the observed GA and the estimated GA were made using R2, calibration slope and intercept. RMSE, mean difference and 95% range of error were also calculated. RESULTS: A total of 2741 pregnant women were examined. After exclusions, 2339 participants were included. In the 20 best performing equations, the intercept ranged from -0.22 to 0.30, the calibration slope from 0.96 to 1.03 and the RSME from 0.67 to 0.87. Overall, multiparameter models outperformed single-parameter models. Both the 95% range of error and mean difference increased with gestation. Commonly used models based on measurement of the head circumference alone were not amongst the best performing models and were associated with higher 95% error and mean difference. CONCLUSIONS: We provide strong evidence that GA-specific equations based on multiparameter models should be used to estimate GA in late pregnancy. However, as all methods of GA assessment in late pregnancy are associated with large prediction intervals, efforts to improve access to early antenatal ultrasound must remain a priority. TRIAL REGISTRATION: The proposal for this study and the corresponding methodological review was registered on PROSPERO international register of systematic reviews (registration number: CRD4201913776).
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Open dysraphisms, that is, myelomeningocele and myeloschisis, are rare diseases associated with a risk of severe disability, including lower limb motor and sensory deficiency, sphincter deficiency, and potential intellectual deficiency. Open dysraphism is diagnosed in Europe in 93.5% of cases. In case of suspicion of fetal open dysraphism, a detailed fetal morphologic assessment is required to confirm the diagnosis and exclude associated structural anomalies, as well as genetic assessment. In case of isolated fetal open dysraphism, assessment of prognosis is based on fetal imaging including the level of the lesion, the presence or not of a sac, the presence and nature of intra cranial anomalies, and the anatomical and functional evaluation of the lower extremities. Based on these biomarkers, a personalized prognosis as well as comprehensive information about prenatal management alternatives will allow parents to decide on further management options. Standardization of prenatal assessment is essential to compare outcomes with benchmark data and make assessment of surgical innovation possible. Herein, we propose a protocol for the standardized ultrasound assessment of fetuses with isolated open dysraphism.
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Ultrasonografía Prenatal , Humanos , Femenino , Embarazo , Europa (Continente) , Ultrasonografía Prenatal/normas , Telemedicina/normas , Diagnóstico Prenatal/métodos , Diagnóstico Prenatal/normas , Espina Bífida Quística/diagnóstico por imagen , Espina Bífida Quística/diagnóstico , Discapacidad Intelectual/diagnóstico , Meningomielocele/diagnóstico , Meningomielocele/diagnóstico por imagenRESUMEN
OBJECTIVE: To describe the MR features enabling prenatal diagnosis of pontocerebellar hypoplasia (PCH). METHOD: This was a retrospective single monocentre study. The inclusion criteria were decreased cerebellar biometry on dedicated neurosonography and available fetal Magnetic Resonance Imaging (MRI) with PCH diagnosis later confirmed either genetically or clinically on post-natal MRI or by autopsy. The exclusion criteria were non-available MRI and sonographic features suggestive of a known genetic or other pathologic diagnosis. The collected data were biometric or morphological imaging parameters, clinical outcome, termination of pregnancy (TOP), pathological findings and genetic analysis (karyotyping, chromosomal microarray, DNA sequencing targeted or exome). PCH was classified as classic, non-classic, chromosomal, or unknown type. RESULTS: Forty-two fetuses were diagnosed with PCH, of which 27 were referred for decreased transverse cerebellar diameter at screening ultrasound. Neurosonography and fetal MRI were performed at a mean gestational age of 29 + 4 and 31 + 0 weeks, respectively. Termination of pregnancy occurred. Pregnancy was terminated in 24 cases. Neuropathological examination confirmed the diagnosis in 24 cases and genetic testing identified abnormalities in 29 cases (28 families, 14 chromosomal anomaly). Classic PCH is associated with pontine atrophy and small MR measurements decreasing with advancing gestation. CONCLUSION: This is the first large series of prenatally diagnosed PCHs. Our study shows the essential contribution of fetal MRI to the prenatal diagnosis of PCH. Classic PCHs are particularly severe and are associated with certain MR features.
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Enfermedades Cerebelosas , Imagen por Resonancia Magnética , Diagnóstico Prenatal , Embarazo , Femenino , Humanos , Lactante , Estudios Retrospectivos , Estudios de Seguimiento , Diagnóstico Prenatal/métodos , Imagen por Resonancia Magnética/métodos , Ultrasonografía Prenatal/métodosAsunto(s)
Cardiomiopatías , Cardiopatías Congénitas , Humanos , Ácido Fólico , Alimentos Fortificados , FranciaRESUMEN
INTRODUCTION: The aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus. MATERIAL AND METHODS: This multicenter observational retrospective study includes all prenatally diagnosed cases of isolated bilateral talipes equinovarus in five fetal medicine centers from 2012 through 2021. Ultrasound data, amniocentesis results, biochemical analyses of amniotic fluid and parental blood samples to test neuromuscular diseases, pregnancy outcomes, and postnatal outcomes were collected for each patient. RESULTS: In all, 214 fetuses with isolated bilateral talipes equinovarus were analyzed. A first-degree family history of talipes equinovarus existed in 9.8% (21/214) of our cohort. Amniocentesis was proposed to 86.0% (184/214) and performed in 70.1% (129/184) of cases. Of the 184 karyotypes performed, two (1.6%) were abnormal (one trisomy 21 and one triple X syndrome). Of the 103 microarrays performed, two (1.9%) revealed a pathogenic copy number variation (one with a de novo 18p deletion and one with a de novo 22q11.2 deletion) (DiGeorge syndrome). Neuromuscular diseases (spinal muscular amyotrophy, myasthenia gravis, and Steinert disease) were tested for in 56 fetuses (27.6%); all were negative. Overall, 97.6% (165/169) of fetuses were live-born, and the diagnosis of isolated bilateral talipes equinovarus was confirmed for 98.6% (139/141). Three medical terminations of pregnancy were performed (for the fetuses diagnosed with Down syndrome, DiGeorge syndrome, and the 18p deletion). Telephone calls (at a mean follow-up age of 4.5 years) were made to all parents to collect medium-term and long-term follow-up information, and 70 (33.0%) families were successfully contacted. Two reported a rare genetic disease diagnosed postnatally (one primary microcephaly and one infantile glycine encephalopathy). Parents did not report any noticeably abnormal psychomotor development among the other children during this data collection. CONCLUSIONS: Despite the low rate of pathogenic chromosomal abnormalities diagnosed prenatally after this ultrasound diagnosis, the risk of chromosomal aberration exceeds the risks of amniocentesis. These data may be helpful in prenatal counseling situations.
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Pie Equinovaro , Enfermedades Neuromusculares , Pie Zambo , Embarazo , Femenino , Niño , Humanos , Preescolar , Pie Equinovaro/diagnóstico por imagen , Pie Equinovaro/genética , Amniocentesis , Estudios Retrospectivos , Variaciones en el Número de Copia de ADN , Diagnóstico Prenatal/métodos , Aberraciones Cromosómicas , Líquido AmnióticoRESUMEN
Obstetrics and gynecology (OB/GYN) are areas of medicine that specialize in the care of women during pregnancy and childbirth and in the diagnosis of diseases of the female reproductive system. Ultrasound scanning has become ubiquitous in these branches of medicine, as breast or fetal ultrasound images can lead the sonographer and guide him through his diagnosis. However, ultrasound scan images require a lot of resources to annotate and are often unavailable for training purposes because of confidentiality reasons, which explains why deep learning methods are still not as commonly used to solve OB/GYN tasks as in other computer vision tasks. In order to tackle this lack of data for training deep neural networks in this context, we propose Prior-Guided Attribution (PGA), a novel method that takes advantage of prior spatial information during training by guiding part of its attribution towards these salient areas. Furthermore, we introduce a novel prior allocation strategy method to take into account several spatial priors at the same time while providing the model enough degrees of liberty to learn relevant features by itself. The proposed method only uses the additional information during training, without needing it during inference. After validating the different elements of the method as well as its genericity on a facial analysis problem, we demonstrate that the proposed PGA method constantly outperforms existing baselines on two ultrasound imaging OB/GYN tasks: breast cancer detection and scan plane detection with segmentation prior maps.
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Ginecología , Internado y Residencia , Obstetricia , Humanos , Embarazo , Masculino , Femenino , Ginecología/educación , Obstetricia/educación , Mama , Redes Neurales de la ComputaciónRESUMEN
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.
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Ontologías Biológicas , Humanos , Fenotipo , Genómica , Algoritmos , Enfermedades RarasRESUMEN
INTRODUCTION: The fetal biometrics charts recommended in France for ultrasound screening include measurements of head circumference (HC), biparietal diameter (BIP), abdominal circumference (AC) and femur length (FL). New international growth standards have been recommended since 2022. The aim of this work is to quantitatively describe the differences between these biometric curves. METHODS: The biometry curves from the French College for Fetal Ultrasound, OMS and INTERGROWTH-21 are pragmatically compared based on their original quantile regression equations (superposition and quantification of differences in millimeters and in proportion) for different percentiles of clinical interest. RESULTS: Compared with the new charts, CFEF underestimates HC<-3DS and AC<10eP. The proportions of differences between the CFEF and INTERGROWTH-21 or WHO curves always remained <5%. The proportions of difference of the 3rd percentile of HC and FL, 10th and 90th percentile of AC were always lower than 2%, 2%, 5% and 4% respectively, between OMS and INTERGROWTH-21. CONCLUSION: The switch to prescriptive standards suggests an improvement in the detection of fetuses with AC<10th percentile, an improvement in the detection of prenatal onset microcephaly, with no argument for a decrease in the detection rate of severe constitutional bone disease or modification of obstetrical guidelines.
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Feto , Obstetricia , Embarazo , Femenino , Humanos , Edad Gestacional , Feto/diagnóstico por imagen , Biometría , Atención Prenatal , Ultrasonografía PrenatalRESUMEN
BACKGROUND: Testicular sperm extraction (TESE) is an essential therapeutic tool for the management of male infertility. However, it is an invasive procedure with a success rate up to 50%. To date, no model based on clinical and laboratory parameters is sufficiently powerful to accurately predict the success of sperm retrieval in TESE. OBJECTIVE: The aim of this study is to compare a wide range of predictive models under similar conditions for TESE outcomes in patients with nonobstructive azoospermia (NOA) to identify the correct mathematical approach to apply, most appropriate study size, and relevance of the input biomarkers. METHODS: We analyzed 201 patients who underwent TESE at Tenon Hospital (Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris), distributed in a retrospective training cohort of 175 patients (January 2012 to April 2021) and a prospective testing cohort (May 2021 to December 2021) of 26 patients. Preoperative data (according to the French standard exploration of male infertility, 16 variables) including urogenital history, hormonal data, genetic data, and TESE outcomes (representing the target variable) were collected. A TESE was considered positive if we obtained sufficient spermatozoa for intracytoplasmic sperm injection. After preprocessing the raw data, 8 machine learning (ML) models were trained and optimized on the retrospective training cohort data set: The hyperparameter tuning was performed by random search. Finally, the prospective testing cohort data set was used for the model evaluation. The metrics used to evaluate and compare the models were the following: sensitivity, specificity, area under the receiver operating characteristic curve (AUC-ROC), and accuracy. The importance of each variable in the model was assessed using the permutation feature importance technique, and the optimal number of patients to include in the study was assessed using the learning curve. RESULTS: The ensemble models, based on decision trees, showed the best performance, especially the random forest model, which yielded the following results: AUC=0.90, sensitivity=100%, and specificity=69.2%. Furthermore, a study size of 120 patients seemed sufficient to properly exploit the preoperative data in the modeling process, since increasing the number of patients beyond 120 during model training did not bring any performance improvement. Furthermore, inhibin B and a history of varicoceles exhibited the highest predictive capacity. CONCLUSIONS: An ML algorithm based on an appropriate approach can predict successful sperm retrieval in men with NOA undergoing TESE, with promising performance. However, although this study is consistent with the first step of this process, a subsequent formal prospective multicentric validation study should be undertaken before any clinical applications. As future work, we consider the use of recent and clinically relevant data sets (including seminal plasma biomarkers, especially noncoding RNAs, as markers of residual spermatogenesis in NOA patients) to improve our results even more.
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Azoospermia , Infertilidad Masculina , Humanos , Masculino , Azoospermia/diagnóstico , Azoospermia/terapia , Semen , Estudios Retrospectivos , Estudios Prospectivos , Espermatozoides , AlgoritmosRESUMEN
INTRODUCTION: We aim to correlate pre- and postnatal data regarding the cleft type and surgical prognostic factors associated to orofacial clefts. METHODS: Retrospective study concerning all cases of orofacial cleft evaluated prenatally (US+/-MRI) between 2015 and 2020 with available postnatal outcomes. We compared prenatal imaging (cleft type and surgical prognostic factors) with postnatal findings. RESULTS: 48 fetuses were included. Median gestational age at first US/MRI examination: 29+2 WG and 31+6 WG, respectively. The prenatal diagnosis was in accordance with postnatal findings with regard to the cleft type in 88% of the cases (n = 42/48) for US and/or MRI, 84% (n = 38/45) for US only, and 90% (n = 37/41) for MRI only. The nasal septum deviation and nostril collapse were underestimated by prenatal US in 48% (n = 12/25) and 44% (n = 11/25) of cases, respectively (Cohen's kappa of 0.22 and 0.32, respectively). Pre- and postnatal examinations were in accordance with 75% of cases (n = 8) regarding evaluation of anteroposterior maxillary shift in case of unilateral alveolar cleft and in 90% and 80% of cases (n = 10) regarding the degree of protrusion/deviation of the premaxillary protrusion in case of bilateral cleft, respectively. CONCLUSION: Prenatal imaging can accurately assess the type of orofacial cleft and evaluate maxillary shift and deviation of the premaxilla. It underestimates the nose deformity.
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Labio Leporino , Fisura del Paladar , Femenino , Embarazo , Humanos , Fisura del Paladar/diagnóstico por imagen , Labio Leporino/diagnóstico por imagen , Estudios Retrospectivos , Diagnóstico Prenatal/métodos , ConsejoRESUMEN
BACKGROUND: Renal oligohydramnios (ROH) is caused by bilateral congenital abnormalities, either of renal parenchymal or obstructive origin. ROH is a poor prognostic factor of neonatal survival; lung hypoplasia is reported to be the main cause of mortality. We aimed to describe the fetal morbidity and pre- and postnatal mortality in case of ROH due to renal congenital pathologies and to find predictive risk factors for morbidity and mortality. METHODS: All data were collected in Trousseau Hospital in the obstetric, neonatology, and pediatric nephrology units, from 2008 to 2020. RESULTS: We included 66 fetuses with renal parenchymal pathologies posterior urethral valves (PUV) (N = 25), bilateral kidney agenesis (N = 10), hypodysplasia (N = 16), and polycystic kidney disease (N = 10) causing oligohydramnios identified on antenatal ultrasound. Total pre- and postnatal mortality was 76% (50/66). Mortality, excepting termination of pregnancy (TOP), was 65%. The presence of pneumomediastinum and pneumothorax was not different in survivors and non-survivors. Fetuses with kidneys having features of hypodysplasia on ultrasound at T2 and those with oligohydramnios before 32 weeks GA had a higher risk of death. There was a significant difference in plasma creatinine of the surviving patients compared to the deceased patients, from day 3 onwards (183 µmol/L [88; 255] vs. 295 µmol/L [247; 326]; p = 0.038). CONCLUSIONS: The main differences between survivors and non-survivors among patients with "renal oligohydramnios" were oligohydramnios detection before 32 weeks GA, dysplasia detection on the second trimester ultrasound, and increase of serum creatinine from day 3 onwards. A higher resolution version of the Graphical abstract is available as Supplementary information.
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Oligohidramnios , Enfermedades Renales Poliquísticas , Sistema Urinario , Recién Nacido , Niño , Humanos , Femenino , Embarazo , Oligohidramnios/diagnóstico por imagen , Oligohidramnios/etiología , Riñón/diagnóstico por imagen , Riñón/anomalías , Sistema Urinario/anomalías , Segundo Trimestre del Embarazo , Ultrasonografía Prenatal/efectos adversosRESUMEN
BACKGROUND: Pyruvate Kinase (PK) deficiency is the most common enzyme defect of glycolysis, leading to congenital hemolytic anemia, which can occur during the neonatal period. STUDY DESIGN AND METHODS: We report the prenatal management of fetal anemia related to PK deficiency in a family with a severe proband. RESULTS: The couple had a first child born with hydrops, whose PK deficiency was diagnosed at 18 months of life. He was treated with allogeneic bone marrow transplantation. The second child was free from disease. For the third pregnancy, the amniocentesis revealed a PK deficiency. Weekly ultrasound monitoring of the middle cerebral artery velocity allowed the detection of severe fetal anemia. Two intrauterine red blood cell transfusions (IUTs) were performed, raising the fetal hemoglobin from 6.6 to 14.5 g/dl at 28 weeks' gestation and from 8.9 to 15.3 g/dl at 31 weeks. A hematopoietic stem cell allograft was discussed prenatally but not chosen, as it would not have significantly changed the perinatal prognosis. The patient delivered a 2730 g girl at 37 weeks, with hemoglobin of 13.6 g/dl. The child presented with neonatal jaundice treated with phototherapy and received postnatal transfusions. DISCUSSION: When a proband is identified in a family, fetal investigation is warranted, to set up third-trimester ultrasound surveillance and perinatal management. In case of fetal severe anemia of unknown etiology, the workup on fetal blood sampling before IUT should comprise the search for erythrocytes enzymopathies, such as PK deficiency. IUTs allow safer full-term delivery in cases with PK deficiency.
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Anemia Hemolítica Congénita no Esferocítica , Anemia , Enfermedades Fetales , Embarazo , Recién Nacido , Masculino , Niño , Femenino , Humanos , Piruvato Quinasa , Transfusión de Sangre Intrauterina/efectos adversos , Anemia/etiología , Anemia/terapia , Anemia Hemolítica Congénita no Esferocítica/complicaciones , Anemia Hemolítica Congénita no Esferocítica/terapia , Anemia Hemolítica Congénita no Esferocítica/diagnóstico , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/terapiaRESUMEN
OBJECTIVES: To select, present, and summarize the best papers in the field of Knowledge Representation and Management (KRM) published in 2021. METHODS: Following the International Medical Informatics Association (IMIA) Yearbook guidelines, a comprehensive and standardized review of the biomedical informatics literature was performed to select the best KRM papers published in 2021, based on PubMed queries. RESULTS: A total of 1,231 publications were retrieved from PubMed. We nominated 15 candidate best papers, and four of them were finally selected as the best papers in the KRM section. The topics covered by these papers include knowledge graph, ontology development, ontology alignment, and the International Classification of Diseases. CONCLUSION: In the KRM best paper selection for 2021, the candidate best papers covered a wider spectrum of topics compared to the last year's significant focus on ontology curation. In particular, ontology development for specific domains (e.g., Alzheimer's disease, infectious diseases, bioethics) has received the most attention.
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Bioética , Informática Médica , Clasificación Internacional de Enfermedades , Gestión del ConocimientoRESUMEN
Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal genetic disease can help to strategize treatment options and clinical preventive measures during the perinatal period, to plan in utero therapies, and to inform parental decision-making. Fetal phenotypes of genetic diseases are often unique and at present are not well understood; more comprehensive knowledge about prenatal phenotypes and computational resources have an enormous potential to improve diagnostics and translational research. The Human Phenotype Ontology (HPO) has been widely used to support diagnostics and translational research in human genetics. To better support prenatal usage, the HPO consortium conducted a series of workshops with a group of domain experts in a variety of medical specialties, diagnostic techniques, as well as diseases and phenotypes related to prenatal medicine, including perinatal pathology, musculoskeletal anomalies, neurology, medical genetics, hydrops fetalis, craniofacial malformations, cardiology, neonatal-perinatal medicine, fetal medicine, placental pathology, prenatal imaging, and bioinformatics. We expanded the representation of prenatal phenotypes in HPO by adding 95 new phenotype terms under the Abnormality of prenatal development or birth (HP:0001197) grouping term, and revised definitions, synonyms, and disease annotations for most of the 152 terms that existed before the beginning of this effort. The expansion of prenatal phenotypes in HPO will support phenotype-driven prenatal exome and genome sequencing for precision genetic diagnostics of rare diseases to support prenatal care.
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Biología Computacional , Placenta , Recién Nacido , Humanos , Femenino , Embarazo , Biología Computacional/métodos , Fenotipo , Enfermedades Raras , Secuenciación del ExomaRESUMEN
Biomedical ontologies define concepts having biomedical significance and the semantic relations among them. Developing high-quality and reusable ontologies in the biomedical domain is a challenging task. Pattern-based ontology design is considered a promising approach to overcome the challenges. Ontology Design Patterns (ODPs) are reusable modeling solutions to facilitate ontology development. This study relies on ODPs to semantically enrich biomedical ontologies by assigning logical definitions to ontological entities. Specifically, pattern-based logical definitions grounded on dispositions are given to prenatal disorders. The proposed approach is performed under the supervision of fetal domain experts.
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Ontologías Biológicas , Lógica , SemánticaRESUMEN
BACKGROUND: The applications of artificial intelligence (AI) processes have grown significantly in all medical disciplines during the last decades. Two main types of AI have been applied in medicine: symbolic AI (eg, knowledge base and ontologies) and nonsymbolic AI (eg, machine learning and artificial neural networks). Consequently, AI has also been applied across most obstetrics and gynecology (OB/GYN) domains, including general obstetrics, gynecology surgery, fetal ultrasound, and assisted reproductive medicine, among others. OBJECTIVE: The aim of this study was to provide a systematic review to establish the actual contributions of AI reported in OB/GYN discipline journals. METHODS: The PubMed database was searched for citations indexed with "artificial intelligence" and at least one of the following medical subject heading (MeSH) terms between January 1, 2000, and April 30, 2020: "obstetrics"; "gynecology"; "reproductive techniques, assisted"; or "pregnancy." All publications in OB/GYN core disciplines journals were considered. The selection of journals was based on disciplines defined in Web of Science. The publications were excluded if no AI process was used in the study. Review, editorial, and commentary articles were also excluded. The study analysis comprised (1) classification of publications into OB/GYN domains, (2) description of AI methods, (3) description of AI algorithms, (4) description of data sets, (5) description of AI contributions, and (6) description of the validation of the AI process. RESULTS: The PubMed search retrieved 579 citations and 66 publications met the selection criteria. All OB/GYN subdomains were covered: obstetrics (41%, 27/66), gynecology (3%, 2/66), assisted reproductive medicine (33%, 22/66), early pregnancy (2%, 1/66), and fetal medicine (21%, 14/66). Both machine learning methods (39/66) and knowledge base methods (25/66) were represented. Machine learning used imaging, numerical, and clinical data sets. Knowledge base methods used mostly omics data sets. The actual contributions of AI were method/algorithm development (53%, 35/66), hypothesis generation (42%, 28/66), or software development (3%, 2/66). Validation was performed on one data set (86%, 57/66) and no external validation was reported. We observed a general rising trend in publications related to AI in OB/GYN over the last two decades. Most of these publications (82%, 54/66) remain out of the scope of the usual OB/GYN journals. CONCLUSIONS: In OB/GYN discipline journals, mostly preliminary work (eg, proof-of-concept algorithm or method) in AI applied to this discipline is reported and clinical validation remains an unmet prerequisite. Improvement driven by new AI research guidelines is expected. However, these guidelines are covering only a part of AI approaches (nonsymbolic) reported in this review; hence, updates need to be considered.
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Ginecología , Obstetricia , Publicaciones Periódicas como Asunto , Inteligencia Artificial , Femenino , Humanos , EmbarazoRESUMEN
OBJECTIVES: The aim of the study was to report a subtype of dysraphism designated as myelic limited dorsal malformation (MyeLDM) and to describe its characteristics at prenatal ultrasound (US). METHODS: It was a retrospective study from 2014 to 2020 based on second-line US evaluation of patients referred to our institution for myelomeningocele (MMC). Magnetic resonance imaging and acetylcholine esterase evaluation in the amniotic fluid were also offered. Major and minor criteria for open and closed dysraphism were defined and recorded for each patient. Patients were included as MyeLDM when both criteria of closed and open dysraphism were observed in the same fetus. Correlations were obtained with the postpartum data. RESULTS: Twenty patients fulfilled the inclusion criteria, some of them being very close to MMC, others very close to limited dorsal myeloschisis (LDM), and others lying in between. There were 13 live-born neonates and 7 terminations of pregnancy. Correlations between prenatal and postpartum data were overall very good. CONCLUSION: Our series describe the ultrasonographic characteristics of an intermediate type of dysraphism and suggest that there is a continuum between MMC and LDM with numerous possibilities of hybrid forms (MyeLDM) sharing characteristics of both open and closed dysraphisms.
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Meningomielocele , Disrafia Espinal , Líquido Amniótico , Femenino , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Meningomielocele/diagnóstico por imagen , Embarazo , Estudios RetrospectivosRESUMEN
OBJECTIVE: To select, present and summarize some of the best papers in the field of Knowledge Representation and Management (KRM) published in 2020. METHODS: A comprehensive and standardized review of the medical informatics literature was performed to select the most interesting papers of KRM published in 2020, based on PubMed queries. This review was conducted according to the IMIA Yearbook guidelines. RESULTS: Four best papers were selected among 1,175 publications. In contrast with the papers selected last year, the four best papers of 2020 demonstrated a significant focus on methods and tools for ontology curation and design. The usual KRM application domains (bioinformatics, machine learning, and electronic health records) were also represented. CONCLUSION: In 2020, ontology curation emerges as a significant topic of research interest. Bioinformatics, machine learning, and electronics health records remain significant research areas in the KRM community with various applications. Knowledge representations are key to advance machine learning by providing context and to develop novel bioinformatics metrics. As in 2019, representations serve a great variety of applications across many medical domains, with actionable results and now with growing adhesion to the open science initiative.
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Ontologías Biológicas , Interoperabilidad de la Información en Salud , Gestión del Conocimiento , Genómica , Humanos , Informática Médica , Unified Medical Language SystemRESUMEN
INTRODUCTION: Open fetal myelomeningocele (MMC) surgery is currently the standard of care option for prenatal MMC repair. We described the population referred to our center and reviewed outcome after open fetal MMC repair. MATERIAL AND METHODS: All patients referred to our center for MMC were reviewed from July 2014 to June 2020. For all the patients who underwent fetal MMC repair, surgical details, maternal characteristics and data from the neonatal to the three-years-old evaluations were collected. RESULTS: Among the 126 patients referred to our center, 49.2% were eligible and 27.4% (n = 17) of them underwent fetal MMC repair. Average gestational age at fetal surgery was 24+6 weeks. There was no case of fetal complication and the only maternal complication was one case of transfusion. We recorded 70% of premature rupture of membranes and 47% of premature labor. Average gestational age at delivery was 34+2 weeks and no patient delivered before 30 weeks. There was no case of uterine scar dehiscence or maternal complication during cesarean section. After birth, 59% of the children had a hindbrain herniation reversal. At 1-year-old, 42% were assigned a functional level of one or more better than expected according to the prenatal anatomic level and 25% required a ventriculoperitoneal shunt. At 3-year-old, all the children attended school and 75% were able to walk with orthotics or independently. CONCLUSION: Open fetal surgery enables anatomical repair of the MMC lesion, a potential benefit on cerebral anomalies and motor function, with a low rate of perinatal and maternal complications.