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1.
Front Immunol ; 15: 1397103, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39114649

RESUMEN

Fetal autoimmune atrioventricular block (AVB) is a rare but potentially life-threatening condition. It results from the passage of maternal anti-SSA/Ro or Anti SSB/La auto-antibodies into the fetal circulation, leading to inflammation and fibrosis of the AV node and often to irreversible damage. Besides AVB, these antibodies can also cause cardiomyopathies, but there is no evidence linking them to tachyarrhythmias. We present the case of a patient with significant risk factors for fetal AVB: a prior history of hydrops fetalis, high anti-SSA/Ro antibody levels and hypothyroidism. In this case, the use of dexamethasone and intravenous immunoglobulin may have contributed to reversing the first-degree atrioventricular block detected at 19 weeks of gestation. Additionally, at 21 weeks, the fetus developed a tachyarrhythmia that needed treatment with flecainide. Soon after the birth, the newborn underwent ECG Holter and Wolff-Parkinson-White Syndrome (WPWS) was diagnosed. To our knowledge, the coexistence of fetal AVB and WPWS has never been described.


Asunto(s)
Anticuerpos Antinucleares , Bloqueo Atrioventricular , Taquicardia , Síndrome de Wolff-Parkinson-White , Humanos , Femenino , Embarazo , Anticuerpos Antinucleares/sangre , Anticuerpos Antinucleares/inmunología , Síndrome de Wolff-Parkinson-White/diagnóstico , Síndrome de Wolff-Parkinson-White/inmunología , Taquicardia/diagnóstico , Taquicardia/etiología , Bloqueo Atrioventricular/diagnóstico , Bloqueo Atrioventricular/inmunología , Bloqueo Atrioventricular/etiología , Adulto , Recién Nacido , Enfermedades Fetales/diagnóstico , Enfermedades Fetales/inmunología , Inmunoglobulinas Intravenosas/uso terapéutico
2.
Stud Health Technol Inform ; 316: 585-586, 2024 Aug 22.
Artículo en Inglés | MEDLINE | ID: mdl-39176809

RESUMEN

In the delivery room, fetal well-being is evaluated through laboratory tests, biosignals like cardiotocography, and imaging techniques such as fetal echocardiography. We have developed a multimodal machine learning model that integrates medical records, biosignals, and imaging data to predict fetal acidosis, using a dataset from a tertiary hospital's delivery room (n=2,266). To achieve this, features were extracted from unstructured data sources, including biosignals and imaging, and then merged with structured data from medical records. The concatenated vectors formed the basis for training a classifier to predict post-delivery fetal acidosis. Our model achieved an Area Under the Receiver Operating Characteristic curve (AUROC) of 0.752 on the test dataset, demonstrating the potential of multimodal models in predicting various fetal outcomes.


Asunto(s)
Acidosis , Salas de Parto , Humanos , Acidosis/diagnóstico , Embarazo , Femenino , Aprendizaje Automático , Cardiotocografía , Enfermedades Fetales/diagnóstico , Enfermedades Fetales/diagnóstico por imagen , Registros Electrónicos de Salud
4.
Wien Med Wochenschr ; 174(11-12): 213-216, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38836950

RESUMEN

Mirror syndrome (Ballantyne syndrome) is a rare condition characterized by maternal edema, which often affects the lungs. It mirrors the image of fetal and placental edema; therefore, it is also called triple edema. We present the case of a 37-year-old secundigravida, referred to our clinic at 26 weeks of a pregnancy complicated by fetal dilatative restrictive cardiomyopathy and hydrops, placentomegaly, new-onset dyspnea, and maternal calf edema. Due to worsening mirror syndrome, preterm labor was induced. Labor was complicated, with soft tissue dystocia, stillbirth, and postpartum hemorrhage. The first pregnancy was also complicated by fetal right ventricular noncompaction dilatative cardiomyopathy. A eutrophic male child was born vaginally at term and died due to deterioration of the cardiac disease in the third year of life. Next-generation sequencing panel for pediatric cardiology was performed in the deceased child and parents. Two gene variants were recorded: MYOM1: c.770_771delCA (p.Thr257fs) and TPM1: c.814G>A (p.Glu272Lys). Both variants were classified as variants of uncertain significance. This case emphasizes the importance of antenatal counseling, the timing of labor induction, appropriate management of possible complications such as postpartum hemorrhage and soft tissue dystocia, and the interpretation of placental biomarkers in the context of mirror syndrome. Finally, it contributes to understanding the clinical significance of the MYOM1 and TPM1 gene variants.


Asunto(s)
Cardiomiopatía Dilatada , Hidropesía Fetal , Humanos , Femenino , Embarazo , Adulto , Masculino , Cardiomiopatía Dilatada/genética , Cardiomiopatía Dilatada/diagnóstico , Hidropesía Fetal/diagnóstico , Hidropesía Fetal/genética , Edema/diagnóstico , Edema/etiología , Recién Nacido , Enfermedades Fetales/diagnóstico , Enfermedades Fetales/genética , Síndrome , Resultado Fatal , Enfermedades Placentarias/diagnóstico
5.
J Perinat Med ; 52(7): 759-768, 2024 Sep 25.
Artículo en Inglés | MEDLINE | ID: mdl-38917319

RESUMEN

OBJECTIVES: To assess congenital fetal bradyarrhythmias with regard to etiological causes, features, risk factors, and prognosis. METHODS: This retrospective study involved fetuses with fetal bradyarrhythmias. All fetuses were evaluated by ultrasonography. Parental ECGs and family histories were obtained, and maternal autoantibodies were measured. Gestational age at diagnosis, fetal atrial and ventricular rates at presentation, type of bradyarrhythmias, the presence or absence of a congenital heart defect (CHD), fetal hydrops, fetal myocardial dysfunction, extra-cardiac abnormalities, maternal autoimmune diseases, maternal autoantibodies as well as prenatal treatment, and neonatal outcome were collected. RESULTS: Of the 40 fetuses included in the study, 11 had maternal rheumatologic disease, 16 had complex cardiac anomalies such as left and right isomerism. Fetuses with CHD significantly differed from those without CHD with increased rates of extra-cardiac anomalies, hydrops, fetal deaths and shorter survival after 28 days (p<0.05). Survival was significantly better in fetuses with maternal rheumatic disease as compared with those with no maternal rheumatic disease (p<0.05). Maternal anti-arrhythmic therapy was administered in 11 fetuses. In utero maternal treatment resulted in no significant difference in the course of arrhythmia or hydrops in fetuses with or without maternal rheumatic disease (p<0.05). In regression analysis, the absence of fetal hydrops was the only independent factor associated with survival (p=0.04). CONCLUSIONS: The course of bradyarrhythmias, along with survival, seems to be more favorable in fetuses with maternal rheumatic disease than in those with CHD, especially left and right isomerism. Hydrops was the sole independent factor associated with poor survival.


Asunto(s)
Bradicardia , Enfermedades Fetales , Humanos , Femenino , Embarazo , Bradicardia/diagnóstico , Estudios Retrospectivos , Enfermedades Fetales/diagnóstico , Adulto , Ultrasonografía Prenatal , Pronóstico
6.
Interv Cardiol Clin ; 13(3): 319-331, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38839166

RESUMEN

With the improvement in the detection of congenital heart disease in fetal life, fetal cardiac interventions are pushing the envelope in hopes of either altering the natural history of disease or improving survival in certain high-risk lesions. These interventions include fetal aortic valvuloplasty for evolving hypoplastic left heart syndrome, fetal atrial septoplasty with or without atrial septal stenting for hypoplastic left heart syndrome and variants with intact or severely restrictive atrial septum, and fetal pulmonary valvuloplasty for severe pulmonary stenosis or pulmonary atresia with intact ventricular septum. This review discusses their indications, technical aspects, and outcomes based on available literature.


Asunto(s)
Corazón Fetal , Cardiopatías Congénitas , Humanos , Cardiopatías Congénitas/cirugía , Embarazo , Femenino , Corazón Fetal/cirugía , Ultrasonografía Prenatal/métodos , Procedimientos Quirúrgicos Cardíacos/métodos , Atresia Pulmonar/cirugía , Enfermedades Fetales/cirugía , Enfermedades Fetales/diagnóstico , Resultado del Tratamiento
9.
Pediatr Neurol ; 156: 119-127, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38761643

RESUMEN

Fetal cerebral ventriculomegaly is one of the most common fetal neurological disorders identified prenatally by neuroimaging. The challenges in the evolving landscape of conditions like fetal cerebral ventriculomegaly involve accurate diagnosis and how best to provide prenatal counseling regarding prognosis as well as postnatal management and care of the infant. The purpose of this narrative review is to discuss the literature on fetal ventriculomegaly, including postnatal management and neurodevelopmental outcome, and to provide practice recommendations for pediatric neurologists.


Asunto(s)
Hidrocefalia , Humanos , Hidrocefalia/diagnóstico por imagen , Hidrocefalia/diagnóstico , Embarazo , Neurólogos/normas , Enfermedades Fetales/diagnóstico , Femenino , Diagnóstico Prenatal/normas , Pediatría/normas , Guías de Práctica Clínica como Asunto/normas
12.
J Pediatr Endocrinol Metab ; 37(6): 569-570, 2024 Jun 25.
Artículo en Inglés | MEDLINE | ID: mdl-38644699

RESUMEN

OBJECTIVES: Fetal and neonatal hyperthyroidism are most commonly seen in patients whose mothers have Graves' disease. Rarely, it can be caused by non-autoimmune conditions. As these conditions are rare, the workup and treatment is not uniform and can lead to persistent symptoms and long-term negative health effects. CASE PRESENTATION: This report describes a patient with congenital hyperthyroidism from a toxic adenoma presenting with fetal tachycardia. The patient was initially managed medically after birth, but was eventually treated with thyroidectomy. CONCLUSIONS: This case report highlights an additional, important, differential diagnosis for fetal hyperthyroidism when maternal Graves' disease has been ruled out.


Asunto(s)
Hipertiroidismo , Nódulo Tiroideo , Humanos , Femenino , Embarazo , Nódulo Tiroideo/patología , Nódulo Tiroideo/cirugía , Nódulo Tiroideo/diagnóstico , Hipertiroidismo/complicaciones , Hipertiroidismo/diagnóstico , Adulto , Recién Nacido , Tiroidectomía , Enfermedades Fetales/patología , Enfermedades Fetales/diagnóstico , Pronóstico , Diagnóstico Diferencial , Ultrasonografía Prenatal
13.
Semin Fetal Neonatal Med ; 29(1): 101523, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38604916

RESUMEN

As the field of fetal-neonatal neurology has expanded over the past 2 decades with increasingly complex diagnoses, multidisciplinary collaboration with many subspecialties including genetics, neonatology, obstetrics, maternal fetal medicine, surgical sub-specialties, cardiology, radiology, palliative care, and ethics has needed to evolve to strive to offer optimal patient care. While comprehensive care delivery with an inter-disciplinary approach is preferred, there are often barriers based on numerous health disparities especially in resource limited settings. Even in the context of comprehensive care, diagnostic and prognostic uncertainty lead to challenges for providers during fetal neurology consultations. We present a case that highlights advantages of a comprehensive multi-disciplinary team in caring for the medical and social challenges of patients faced with a fetal neurologic diagnosis. Inter-disciplinary training focusing on maternal, fetal, neonatal, and childhood neurodevelopmental course and collaboration among the numerous stakeholders that contribute to fetal neurology practice is needed to provide optimal counseling and care for families faced with a fetal neurological diagnosis.


Asunto(s)
Neurología , Grupo de Atención al Paciente , Femenino , Humanos , Recién Nacido , Embarazo , Enfermedades Fetales/terapia , Enfermedades Fetales/diagnóstico , Neurología/tendencias , Diagnóstico Prenatal/tendencias , Diagnóstico Prenatal/métodos
14.
Semin Fetal Neonatal Med ; 29(1): 101524, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38609800

RESUMEN

Fetal neurology encompasses the full spectrum of neonatal and child neurology presentations, with complex additional layers of diagnostic and prognostic challenges unique to the specific prenatal consultation. Diverse genetic and acquired etiologies with a range of potential outcomes may be encountered. Three clinical case presentations are discussed that highlight how postnatal phenotyping and longitudinal follow-up are essential to address the uncertainties that arise in utero, after birth, and in childhood, as well as to provide continuity of care.


Asunto(s)
Enfermedades del Sistema Nervioso , Humanos , Femenino , Embarazo , Recién Nacido , Enfermedades del Sistema Nervioso/diagnóstico , Masculino , Derivación y Consulta , Diagnóstico Prenatal/métodos , Enfermedades Fetales/diagnóstico , Lactante
17.
Int J Gynaecol Obstet ; 166(2): 859-870, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38441244

RESUMEN

OBJECTIVE: To identify new parameters predicting fetal acidemia. METHODS: A retrospective case-control study in a cohort of deliveries from a tertiary referral hospital-based cohort deliveries in Zaragoza, Spain between 2018 and 2021 was performed. To predict fetal acidemia, the NICHD categorizations and non-NICHD parameters were analyzed in the electronic fetal monitoring (EFM). Those included total reperfusion time, total deceleration area and the slope of the descending limb of the fetal heart rate of the last deceleration curve. The accuracy of the parameters was evaluated using the specificity for (80%, 85%, 90%, 95%) sensitivity and the area under the receiver operating characteristic curve (AUC). RESULTS: A total of 10 362 deliveries were reviewed, with 224 cases and 278 controls included in the study. The NICHD categorizations showed reasonable discriminatory ability (AUC = 0.727). The non-NICHD parameters measured during the 30-min fetal monitoring, total deceleration area (AUC = 0.807, 95% CI: 0.770, 0.845) and total reperfusion time (AUC = 0.750, 95% CI: 0.707, 0.792), exhibited higher discriminatory ability. The slope of the descending limb of the fetal heart rate of the last deceleration curve had the best AUC value (0.853, 95% CI: 0.816, 0.889). The combination of total deceleration area or total reperfusion time with the slope demonstrated high discriminatory ability (AUC = 0.908, 95% CI: 0.882, 0.933; specificities of 71.6% and 72.7% for a sensitivity of 90%). CONCLUSIONS: The slope of the descending limb of the fetal heart rate of the last deceleration curve is the strongest predictor of fetal acidosis, but its combination with the total reperfusion time shows better clinical utility.


Asunto(s)
Acidosis , Cardiotocografía , Enfermedades Fetales , Frecuencia Cardíaca Fetal , Humanos , Femenino , Embarazo , Frecuencia Cardíaca Fetal/fisiología , Acidosis/diagnóstico , Estudios Retrospectivos , Estudios de Casos y Controles , Cardiotocografía/métodos , Enfermedades Fetales/diagnóstico , Adulto , Desaceleración , España , Curva ROC , Monitoreo Fetal/métodos , Sensibilidad y Especificidad
19.
Z Geburtshilfe Neonatol ; 228(4): 328-339, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38387612

RESUMEN

Congenital LQTS is an often undetected inherited cardiac channel dysfunction and can be a reason for intrauterine fetal demise. It can present in utero as CTG and ultrasound abnormalities, i. e., bradycardia, ventricular tachycardia, or fetal hydrops. Diagnosis is made by CTG, echocardiography, or fMCG. Intrauterine therapy with a ß blocker and i. v. magnesium should be started. Our objective was to examine the current knowledge about diagnosis and treatment of LQTS and in particular to highlight the opportunity of vaginal birth under continuous intravenous magnesium therapy. Therefore, a thorough MEDLINE and Google Scholar search was conducted. Randomized controlled trials, meta-analyses, prospective and retrospective cohort trials, and case reports were considered. We showed the possibility of vaginal delivery under continuous magnesium therapy in a case of suspected fetal LQTS. A stepwise concept for diagnosis, monitoring, and peripartum management in low, intermediate, and high risk cases of fetal LQTS is presented. If risk is low or intermediate, a vaginal delivery under continuous monitoring is reasonable. Induction of labor at term should be evaluated.


Asunto(s)
Trabajo de Parto Inducido , Síndrome de QT Prolongado , Humanos , Femenino , Embarazo , Síndrome de QT Prolongado/diagnóstico , Síndrome de QT Prolongado/terapia , Síndrome de QT Prolongado/tratamiento farmacológico , Recién Nacido , Adulto , Magnesio/administración & dosificación , Enfermedades Fetales/tratamiento farmacológico , Enfermedades Fetales/terapia , Enfermedades Fetales/diagnóstico , Parto Obstétrico , Atención Perinatal/métodos
20.
Reprod Sci ; 31(6): 1533-1540, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38388923

RESUMEN

The aim of this study was to evaluate maternal serological status and fetal sonographic findings of Cytomegalovirus (CMV) infection. This is a retrospective study performed at Perinatology Department of Istanbul Basaksehir Çam and Sakura City Hospital. A computerized search was conducted to identify cases who underwent prenatal diagnosis of fetal CMV infection between September 2020 and December 2023. We identified nine cases with fetal CMV infection. The clinical data of the patients, gestational age at the time of diagnosis, serological, sonographic findings, and pregnancy outcomes were analyzed. A computer search of the database was made for the seroprevalance of CMV-IgM and CMV-IgG in our population. The CMV-IgM and IgG results of the 1235 patients who underwent CMV screening in the first trimester between September 2020 and December 2023 were evaluated. Fetal CMV infection was identified in nine patients. None of the 9 cases showed maternal CMV-IgM positivity. Seven of the 9 patients showed high IgG avidity index. Pregnant population had 98 % positivity for CMV-IgG. The evaluation of serologic tests for CMV is not straightforward in the second and third trimester. IgM and IgG avidity should be interpreted with caution in the second and third trimester. In the presence of ultrasound findings suggesting fetal CMV infection and CMV-IgG positivity, invasive diagnostic tests rather than serological test should be discussed with the patient, and non-primary infections should always be considered to minimize overlooked fetal cytomegalovirus infections and missed antiviral treatment opportunity.


Asunto(s)
Anticuerpos Antivirales , Infecciones por Citomegalovirus , Citomegalovirus , Inmunoglobulina M , Complicaciones Infecciosas del Embarazo , Humanos , Infecciones por Citomegalovirus/diagnóstico , Infecciones por Citomegalovirus/inmunología , Femenino , Embarazo , Inmunoglobulina M/sangre , Estudios Retrospectivos , Adulto , Citomegalovirus/inmunología , Complicaciones Infecciosas del Embarazo/diagnóstico , Complicaciones Infecciosas del Embarazo/sangre , Complicaciones Infecciosas del Embarazo/inmunología , Complicaciones Infecciosas del Embarazo/virología , Anticuerpos Antivirales/sangre , Ultrasonografía Prenatal , Inmunoglobulina G/sangre , Enfermedades Fetales/virología , Enfermedades Fetales/inmunología , Enfermedades Fetales/diagnóstico , Enfermedades Fetales/sangre
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