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OBJECTIVE: Evaluation of course and outcome of pregnancies with prenatally diagnosed fetal urinoma in a single center over a 20-year period. METHODS: Retrospective study including all prenatally suspected or diagnosed fetal urinomas. Cases were analyzed by ultrasound findings during pregnancy, comparing urinomas caused by lower urinary tract obstruction (LUTO) and ureteropelvic or ureterovesical junction obstruction (UPJO/UVJO). Course of pregnancy and outcomes were compared according to the underlying etiology. RESULTS: 87 cases of fetal urinomas were identified between 2002 and 2022. The underlying etiology was LUTO in 56.3% and UPJO/UVJO in 43.7%. Complications mainly included oligo- or anhydramnios, thoracic hypoplasia as well as associated renal abnormalities. Postnatally, loss of function (LOF) in kidneys affected by urinomas was seen in 78.6% of children overall, but significantly more often in cases of UPJO/UVJO than in LUTO (86.2% vs. 70.2%, p < 0.05). CONCLUSION: Association of prenatal urinoma and postnatal LOF of the affected kidney is high, especially in cases caused by UPJO/UVJO. In survivors with urinoma caused by UPJO/UVJO, the general prognosis is excellent if the contralateral kidney was normal. In survivors with urinomas caused by LUTO, long-term prognosis depends on postnatal renal and pulmonary function.
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Obstrucción Ureteral , Urinoma , Embarazo , Niño , Femenino , Humanos , Urinoma/diagnóstico , Estudios Retrospectivos , Diagnóstico Prenatal , Riñón/diagnóstico por imagen , Feto , Ultrasonografía PrenatalRESUMEN
OBJECTIVE: In our center, we observed an increased frequency of right aortic arch (RAA) with an agenesis of the ductus arteriosus (ADA) in prenatally diagnosed tetralogy of Fallot (ToF) and its variations. This study aimed to determine whether there is an association of RAA and ADA in fetuses with ToF. Distribution of genetic anomalies and impact on postnatal outcome were further evaluated. METHOD: Single-center retrospective observational study including pregnancies with prenatal diagnosis of ToF from 2010 to 2023. All cases were subdivided into ToF with pulmonary stenosis (PS) and pulmonary atresia (PA). Clinical and echocardiographic databases were reviewed for pregnancy outcome, genetic anomalies, and postnatal course. RESULTS: The cohort included 169 cases, 124 (73.4%) with ToF/PS and 45(26.6%) with ToF/PA. Agenesis of the ductus arteriosus was significantly associated with RAA in both subtypes of ToF (p = 0.001) compared to left aortic arch and found in 82.5% (33/40) versus 10.7% (9/84) of fetuses with ToF/PS and in 57.1% (8/14) versus 12.9% (4/31) of fetuses with ToF/PA. In both ToF/PS and ToF/PA, RAA/ADA versus RAA/patent DA revealed a significantly higher risk for the presence of genetic abnormalities, especially microdeletion 22q11.2, major aorto-pulmonary collateral arteries and a shorter time to complete surgical repair. CONCLUSION: We demonstrated a significantly increased frequency of RAA/ADA in patients with prenatally diagnosed ToF. Although this association revealed no significant impact on overall survival, the prenatal detection of RAA/ADA has implications for counseling, genetic evaluation and postnatal management.
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Aorta Torácica , Conducto Arterial , Tetralogía de Fallot , Ultrasonografía Prenatal , Humanos , Tetralogía de Fallot/diagnóstico por imagen , Tetralogía de Fallot/epidemiología , Tetralogía de Fallot/genética , Femenino , Estudios Retrospectivos , Embarazo , Aorta Torácica/anomalías , Aorta Torácica/diagnóstico por imagen , Adulto , Conducto Arterial/anomalías , Conducto Arterial/diagnóstico por imagen , Atresia Pulmonar/diagnóstico por imagen , Atresia Pulmonar/diagnóstico , Recién Nacido , Anomalías Múltiples/epidemiología , Anomalías Múltiples/diagnóstico por imagenRESUMEN
INTRODUCTION: Prenatal lower urinary tract obstruction (LUTO) is a rare and challenging condition with potential severe morbidity and mortality. Prenatal shunting methods, specifically vesicoamniotic shunting (VAS) and fetal cystoscopy, aim to manage this condition. However, comprehensive education and training are hindered by the rarity of LUTO. To address this gap, we present a low-cost 3D-printed ultrasound training model for VAS in LUTO fetuses. The aim of the study was to evaluate ultrasound and haptic fidelity of the model. MATERIAL AND METHODS: Ultrasound images of three LUTO fetuses at 12-14 weeks were utilized to create detailed 3D-printed models. Fusion360TM software generated stereo-lithography files, and the Formlabs Form3® printer, using Flexible 80A resin, produced the models. A simulation box mimicking uterine conditions and fetal anatomy was developed for testing. Ultrasound assessments determined model accuracy, and expert evaluations gauged fidelity for VAS placement. RESULTS: The 3D-printed model accurately replicated LUTO fetal anatomy, demonstrating structural integrity and realistic sonographic and haptic feedback during 20 punctures. Macroscopic visualization confirmed the model's durability and authenticity. DISCUSSION: This innovative 3D-printed model addresses the scarcity of LUTO cases and the lack of realistic training tools. Simulation models enhance skills, providing a controlled learning environment that bridges theoretical knowledge and clinical application, potentially improving patient outcomes. CONCLUSIONS: The 3D-printed training model for VAS in LUTO represents a significant advancement in surgical education, offering realistic anatomical simulation and tactile feedback. Future studies should assess its effectiveness in enhancing surgical skills and impacting patient outcomes in clinical practice.
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Modelos Anatómicos , Impresión Tridimensional , Ultrasonografía Prenatal , Humanos , Femenino , Embarazo , Obstrucción Uretral/cirugía , Obstrucción Uretral/diagnóstico por imagen , Ultrasonografía Intervencional/métodos , Entrenamiento Simulado/métodosRESUMEN
INTRODUCTION: The emergence of handheld ultrasound devices capable of connecting to cell phones or tablets heralds a significant advancement in medical technology, particularly within the field of obstetrics. These devices offer the promise of immediate bedside ultrasound examinations, potentially revolutionizing patient care by enabling fetal assessments in diverse settings. MATERIAL AND METHODS: This prospective study aimed to validate the reliability of non-piezo, chip-based handheld ultrasound devices in clinical obstetric practice. Conducted in a university hospital obstetric ward, the study included 100 pregnant women between 17 and 41 weeks of gestation. Participants underwent ultrasound examinations using both conventional and portable point-of-care ultrasound (POCUS) devices to compare the accuracy in estimating fetal weight and other parameters, such as cardiac activity, fetal presentation, placental location, and amniotic fluid volume. The reliability and agreement between the devices were assessed using intraclass correlation coefficients, Bland-Altman plots, and Pearson correlation coefficients. RESULTS: The results show a near-perfect agreement (0.98) and correlation (r = 0.98, p < 0.001) for estimated fetal weight and most biometry measurements between the two types of ultrasound devices, with slight deviations in head circumference and amniotic fluid index measurements. Subgroup analysis revealed variations in agreement and correlation rates with higher BMI and advanced gestational age, indicating areas for further refinement. CONCLUSIONS: These findings affirm the high reliability of handheld ultrasound devices for basic obstetric ultrasound evaluations, supporting their integration into daily clinical practice. This technology improves the flexibility and immediacy of prenatal care, although further research is needed to optimize its application across patient populations and treatment settings.
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AIM: Less than a dozen cases of psoas abscesses in pregnancy have been described in the literature. We reviewed the literature when treating a patient with a psoas abscess after ipsilateral double J-ureteral stent placement (in the following: "double J-stent") due to infected hydronephrosis. METHODS: In January 2022, this review was searched using the Pubmed/MEDLINE database and the mesh terms "Psoas Abscess" AND "Pregnancy". Studies were included in any language and of all years, describing a psoas abscess during pregnancy. When patients did not have a psoas abscess, the abscess occurred after pregnancy, or when there was no full text available, the article was excluded. MAIN RESULTS: Ten case reports about patients with psoas abscesses during pregnancy were included. The classical symptomatic triad of psoas muscle abscess included lower back pain, limping and persistent fever with daily spikes. However, in most cases, not all three symptoms can be found. Especially, fever is absent in more than half of the patients. Psoas abscesses are described between 13 and 39 weeks of gestation. Primary psoas abscesses with haematogenous spread are more common during pregnancy than secondary with spread per continuitatem. In the literature, the main reasons for psoas abscess are spinal tuberculosis, drug abuse or underlying diseases such as Crohn's disease. It is not uncommon for the definite cause to be unclear. Regarding the patient's symptoms, pyelonephritis is often considered a possible aetiology. In general, the main treatment options include antibiotic treatment and abscess drainage. There is no higher caesarean section rate, and no negative outcome for the foetus has been described. CASE PRESENTATION: In our patient, a 38-year-old obese Caucasian woman, who had received a left double J-stent for infected hydronephrosis at 15 weeks of gestation, we successfully treated a psoas abscess of 20 × 10 cm with a sonographically assisted abscess drainage and antibiotics. The further course of pregnancy and the elective repeat caesarean section at 38 + 0 weeks of gestation were without any problems. Double J-stent placement and laser stone lithotripsy during puerperium were performed because of recurrent urolithiasis. CONCLUSIONS: Although rare, psoas abscesses can occur during pregnancy, and it has often been treated surgically in the past. A psoas abscess as a complication after infected hydronephrosis and intervention during pregnancy has never been reported in the literature. Even for obese patients, minimally invasive therapy may be a treatment option that has rarely been reported in the literature.
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Absceso del Psoas , Pionefrosis , Humanos , Femenino , Embarazo , Adulto , Absceso del Psoas/cirugía , Absceso del Psoas/diagnóstico , Cesárea/efectos adversos , Pionefrosis/complicaciones , Pionefrosis/tratamiento farmacológico , Antibacterianos/uso terapéutico , Drenaje/efectos adversos , Obesidad/complicacionesRESUMEN
BACKGROUND: Academic advancement of the midwifery profession highlights the need to establish standardized qualifications in obstetric ultrasound diagnosis, being a central part of prenatal care. Thus, introduction of an evidence-based training program is warranted. We aimed to reviewed curriculum designs used in midwifery ultrasound education. METHODS: A systematic literature research was conducted. Embase, PubMed and Google Scholar database was reviewed for publications using the terms "[midwife], [midwives], [midwifery students], [obstetric ultrasound], [midwife sonographer] and [education], [teaching], [program], [course], [curriculum] and [learning]". Papers with full description of curriculum designs or educational programs on obstetrical ultrasound for midwives were included and scrutinized against pre-defined criteria according to the PICO (Population, Intervention, Comparator, Outcomes) scheme. RESULTS: 29 publications were included. Studies demonstrated a significant disparity according to course concepts being used. Differing parameters included: Duration, structure, learning approaches, course content, examination concepts and target groups (practising midwives vs. midwives in education). CONCLUSION: An evidence-based ultrasound educational program for midwives remains to be developed, including further educational guidelines. Clinical applications by midwives, as well as the distinctions from medical practise, particularly in terms of legal considerations, needs to be defined.
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Curriculum , Partería , Atención Prenatal , Ultrasonografía Prenatal , Humanos , Partería/educación , Embarazo , Atención Prenatal/normas , Femenino , Ultrasonografía Prenatal/normas , Competencia ClínicaRESUMEN
BACKGROUND: Ultrasound (US) has become integral to obstetrics and gynecology (Ob/Gyn), necessitating proficient training during residency. Despite its clinical importance, there is a perceived gap in the quality and structure of postgraduate ultrasound education in Germany. METHODS: A cross-sectional survey was conducted among Ob/Gyn residents in Germany from October 2023 to March 2024, using the LimeSurvey platform. The survey, distributed via email, social media, and physical flyers, garnered 211 participants, with 115 completing all sections. The questionnaire covered demographic details, US training experiences, and the perceived importance of US in clinical practice. RESULTS: Although US was highly valued by respondents, with an average of 26.1% of their clinical activity devoted to it, there was significant dissatisfaction with the training quality. Key issues included inadequate supervision, the necessity of self-training, and low participation in certification courses. Despite 93.0% awareness of professional US organizations like the German Society for Ultrasound in Medicine (DEGUM), engagement with structured training programs was minimal. DISCUSSION: The study highlights a critical need for standardized US training protocols and curricular reform in Ob/Gyn residencies in Germany. The discrepancy between the recognized importance of US and the quality of training indicates a pressing need for improvements. Addressing these gaps through comprehensive, structured educational reforms could significantly enhance the proficiency and confidence of future Ob/Gyn specialists, ultimately improving patient care.
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BACKGROUND: We used two 3D ultrasound volumes of fetal heads at 13 weeks to create live-size 3D-printed phantoms with a view to training or assessment of diagnostic abilities for normal and abnormal nuchal translucency measurements. The phantoms are suitable for use in a water bath, imitating a real-life exam. They were then used to study measurement accuracy and reproducibility in examiners of different skill levels. METHODS: Ultrasound scans of a 13 + 0-week fetus were processed using 3D Slicer software, producing a stereolithography file for 3D printing. The model, crafted in Autodesk Fusion360™, adhered to FMF guidelines for NT dimensions (NT 2.3 mm). Additionally, a model with pathologic NT was designed (NT 4.2 mm). Printing was performed via Formlabs Form 3® printer using High Temp Resin V2. The externally identical looking 3D models were embedded in water-filled condoms for ultrasound examination. Eight specialists of varying expertise levels conducted five NT measurements for each model, classifying them in physiological and abnormal models. RESULTS: Classification of the models in physiological or abnormal NT resulted in a detection rate of 100%. Average measurements for the normal NT model and the increased NT model were 2.27 mm (SD ± 0.38) and 4.165 mm (SD ± 0.51), respectively. The interrater reliability was calculated via the intraclass correlation coefficient (ICC) which yielded a result of 0.883, indicating robust agreement between the raters. Cost-effectiveness analysis demonstrated the economical nature of the 3D printing process. DISCUSSION: This study underscores the potential of 3D printed fetal models for enhancing ultrasound training through high inter-rater reliability, consistency across different expert levels, and cost-effectiveness. Limitations, including population variability and direct translation to clinical outcomes, warrant further exploration. The study contributes to ongoing discussions on integrating innovative technologies into medical education, offering a practical and economical method to acquire, refine and revise diagnostic skills in prenatal ultrasound. Future research should explore broader applications and long-term economic implications, paving the way for transformative advancements in medical training and practice.
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PURPOSE: In adults and fetuses, N-terminal pro-B-type natriuretic peptide (NT-proBNP) is a marker of cardiac failure and myocardial remodelling. We examined the effect of anemia and intrauterine transfusion (IUT) on NT-proBNP concentrations in fetuses with anemia and established gestational age-dependent reference values of a control group. METHODS: We analyzed NT-proBNP levels in anemic fetuses that underwent serial intrauterine transfusions (IUT), focusing on different causes and severity of anemia and comparing the results to a non-anemic control group. RESULTS: In the control group, the average NT-proBNP concentration was 1339 ± 639 pg/ml, decreasing significantly with increasing gestational age (R = - 74.04, T = - 3.65, p = 0.001). Subjects had significantly higher NT-proBNP concentrations before initiation of IUT therapy (p < 0.001), showing fetuses with parvovirus B19 (PVB19) infection having the highest concentrations. Hydropic fetuses also showed an increased NT-proBNP concentration compared to non-hydropic fetuses (p < 0.001). During the course of therapy, NT-proBNP concentration before subsequent IUT decreased significantly from pathologically high levels, while MoM-Hb and MoM-MCA-PSV remained pathological. CONCLUSION: NT-pro BNP levels in non-anemic fetuses are higher than in postnatal life, decreasing with ongoing pregnancy. Anemia is a hyperdynamic state and its severity correlates with circulating NT-proBNP levels. Highest concentrations occur in fetuses with hydrops and with PVB19 infection, respectively. Treatment by IUT leads to a normalisation of NT-proBNP concentrations, so the measurement of its levels may be useful in therapy monitoring.
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Anemia , Enfermedades Fetales , Fragmentos de Péptidos , Embarazo , Femenino , Adulto , Humanos , Enfermedades Fetales/terapia , Péptido Natriurético Encefálico , Anemia/terapia , Feto , Transfusión de Sangre Intrauterina/métodosRESUMEN
INTRODUCTION: Congenital diaphragmatic hernia (CDH) is one of the most severe neonatal malformations with a mortality of 20-35%. Currently, the rate of prenatally recognized CDHs is 60-80%. This study investigated the characteristics and outcome data of children with prenatally unrecognized CDH. METHODS: Postnatally diagnosed CDH newborns treated at the University Hospital Bonn between 2012 and 2021 were included. Treatment and outcome data were compared according to type of maternity hospital, Apgar values, and between prenatally and postnatally diagnosed CDH. RESULTS: Of 244 CDH newborns, 22 were included. Comparison for birth in a facility with vs. without pediatric care showed for mortality: 9% vs. 27%, p=0.478; ECMO rate: 9% vs. 36%, p=0.300; age at diagnosis: 84 vs. 129 min, p=0.049; time between intubation and diagnosis: 20 vs. 86 min, p=0.019. Newborns in the second group showed significantly worse values for pH and pCO2. Furthermore, there was a tendency for higher mortality and ECMO rates in children with an Apgar score<7 vs.≥7. Children diagnosed postnatally were significantly more likely to have moderate or severe PH and tended to have cardiac dysfunction more often than those diagnosed prenatally. DISCUSSION: In our cohort, ca. one in 10 newborns received a postnatal CDH diagnosis. Birth in a facility without pediatric care is associated with later diagnosis, which may favor hypercapnia/acidosis and more severe pulm.
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Anomalías Múltiples , Hernias Diafragmáticas Congénitas , Niño , Recién Nacido , Femenino , Humanos , Embarazo , Hernias Diafragmáticas Congénitas/diagnóstico , Hernias Diafragmáticas Congénitas/terapia , Hernias Diafragmáticas Congénitas/complicaciones , Estudios RetrospectivosRESUMEN
BACKGROUND: Fetal growth restriction is strongly associated with impaired placentation and abnormal uteroplacental blood flow. Nitric oxide donors such as pentaerythritol tetranitrate are strong vasodilators and protect the endothelium. Recently, we demonstrated in a randomized controlled pilot study a 38% relative risk reduction for the development of fetal growth restriction or perinatal death following administration of pentaerythritol tetranitrate to pregnant women at risk, identified by impaired uterine perfusion at midgestation. Results of this monocenter study prompted the hypothesis that pentaerythritol tetranitrate might have an effect in pregnancies with compromised placental function as a secondary prophylaxis. OBJECTIVE: This study aimed to test the hypothesis that the nitric oxide donor pentaerythritol tetranitrate reduces fetal growth restriction and perinatal death in pregnant women with impaired placental perfusion at midgestation in a multicenter trial. STUDY DESIGN: In this multicenter, randomized, double-blind, placebo-controlled trial, 2 parallel groups of pregnant women presenting with a mean uterine artery pulsatility index >95th percentile at 19+0 to 22+6 weeks of gestation were randomized to 50-mg Pentalong or placebo twice daily. Participants were assigned to high- or low-risk groups according to their medical history before randomization was performed block-wise with a fixed block length stratified by center and risk group. The primary efficacy endpoint was the composite outcome of perinatal death or development of fetal growth restriction. Secondary endpoints were neonatal and maternal outcome parameters. RESULTS: Between August 2017 and March 2020, 317 participants were included in the study and 307 were analyzed. The cumulative incidence of the primary outcome was 41.1% in the pentaerythritol tetranitrate group and 45.5% in the placebo group (unadjusted relative risk, 0.90; 95% confidence interval, 0.69-1.17; adjusted relative risk, 0.90; 95% confidence interval, 0.69-1.17; P=.43). Secondary outcomes such as preterm birth (unadjusted relative risk, 0.73; 95% confidence interval, 0.56-0.94; adjusted relative risk, 0.73; 95% confidence interval, 0.56-0.94; P=.01) and pregnancy-induced hypertension (unadjusted relative risk, 0.65; 95% confidence interval, 0.46-0.93; adjusted relative risk, 0.65; 95% confidence interval, 0.46-0.92; P=0.01) were reduced. CONCLUSION: Our study failed to show an impact of pentaerythritol tetranitrate on the development of fetal growth restriction and perinatal death in pregnant women with impaired uterine perfusion at midgestation. Pentaerythritol tetranitrate significantly reduced secondary outcome parameters such as the incidence of preterm birth and pregnancy-induced hypertension in these pregnancies.
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Hipertensión Inducida en el Embarazo , Tetranitrato de Pentaeritritol , Muerte Perinatal , Nacimiento Prematuro , Embarazo , Femenino , Recién Nacido , Humanos , Tetranitrato de Pentaeritritol/uso terapéutico , Retardo del Crecimiento Fetal/etiología , Placenta/irrigación sanguínea , Placentación , Perfusión/efectos adversosRESUMEN
Levosimendan as a calcium-sensitizer is a promising innovative therapeutical option for the treatment of severe cardiac dysfunction (CD) and pulmonary hypertension (PH) in preterm infants, but no data are available analyzing levosimendan in cohorts of preterm infants. The design/setting of the evaluation is in a large case-series of preterm infants with CD and PH. Data of all preterm infants (gestational age (GA) < 37 weeks) with levosimendan treatment and CD and/or PH in the echocardiographic assessment between 01/2018 and 06/2021 were screened for analysis. The primary clinical endpoint was defined as echocardiographic response to levosimendan. Preterm infants (105) were finally enrolled for further analysis. The preterm infants (48%) were classified as extremely low GA newborns (ELGANs, < 28 weeks of GA) and 73% as very low birth weight infants (< 1500 g, VLBW). The primary endpoint was reached in 71%, without difference regarding GA or BW. The incidence of moderate or severe PH decreased from baseline to follow-up (24 h) in about 30%, with a significant decrease in the responder group (p < 0.001). The incidence of left ventricular dysfunction and bi-ventricular dysfunction decreased significantly from baseline to follow-up (24 h) in the responder-group (p = 0.007, and p < 0.001, respectively). The arterial lactate level decreased significantly from baseline (4.7 mmol/l) to 12 h (3.6 mmol/l, p < 0.05), and 24 h (3.1 mmol/l, p < 0.01). Conclusion: Levosimendan treatment is associated with an improvement of both CD and PH in preterm infants, with a stabilization of the mean arterial pressure during the treatment and a significant decrease of arterial lactate levels. Future prospective trials are highly warranted. What is Known: ⢠Levosimendan as a calcium-sensitizer and inodilator is known to improve the low cardiac output syndrome (LCOS), and improves ventricular dysfunction, and PH, both in pediatric as well as in adult populations. Data related to critically ill neonates without major cardiac surgery and preterm infants are not available. What is New: ⢠This study evaluated the effect of levosimendan on hemodynamics, clinical scores, echocardiographic severity parameters, and arterial lactate levels in a case-series of 105 preterm infants for the first time. Levosimendan treatment in preterm infants is associated with a rapid improvement of CD and PH, an increase of the mean arterial pressure, and a significant decrease in arterial lactate levels, as surrogate marker for a LCOS. ⢠How this study might affect research, practice, or policy. As no data are available regarding the use of levosimendan in this population, our results hopefully animate the research community to conduct future prospective trails analyzing levosimendan in randomized controlled trials (RCT) and observational control studies. Additionally, our results potentially motivate clinicians to introduce levosimendan as second second-line therapy in cases of severe CD and PH in preterm infants without improvement using standard treatment strategies.
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Hipertensión Pulmonar , Disfunción Ventricular Izquierda , Recién Nacido , Lactante , Adulto , Humanos , Niño , Simendán/uso terapéutico , Hipertensión Pulmonar/tratamiento farmacológico , Hipertensión Pulmonar/etiología , Calcio , Recien Nacido Prematuro , Gasto Cardíaco Bajo , Lactatos/uso terapéutico , Cardiotónicos/uso terapéuticoRESUMEN
Perinatal brain damage is still one of the leading contributors to perinatal death and postnatal disability worldwide. However, the term perinatal brain damage encompasses very different aetiological entities that result in an insult to the developing brain and does not differentiate between the onset, cause and severity of this insult. Hypoxic-ischemic encephalopathy (HIE), intraventricular haemorrhage, periventricular leukomalacia and perinatal stroke are often listed as the major aetiologies of perinatal brain damage. They differ by type and timing of injury, neuropathological and imaging findings and their clinical picture. Along the timeline of neurodevelopment in utero, there appears to be a specific "window of vulnerability" for each type of injury, but clinical overlap does exist. In the past, peripartum acute hypoxia was believed to be the major, if not the only, cause of perinatal brain damage, but intrauterine inflammation, prematurity, chronic hypoxia/growth retardation and genetic abnormalities appear to be at least equally important contributors.
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Lesiones Encefálicas , Hipoxia-Isquemia Encefálica , Enfermedades del Recién Nacido , Recién Nacido , Embarazo , Femenino , Humanos , Obstetras , Encéfalo/patología , Hipoxia-Isquemia Encefálica/diagnóstico , Hipoxia-Isquemia Encefálica/etiología , Hipoxia-Isquemia Encefálica/patología , Hipoxia , Enfermedades del Recién Nacido/diagnóstico , Enfermedades del Recién Nacido/etiologíaRESUMEN
PURPOSE: Report on the diagnosis of prenatally detected fetal kidneys with bilateral polycystic appearance in a single center between 1999 and 2020 with special focus on renal morphology and biometry, amniotic fluid and extrarenal findings and proposal for an diagnostic algorithm. METHODS: Retrospective observational study including pregnancies with prenatally detected kidneys with bilateral polycystic appearance (n = 98). Cases and outcomes were compared according to prenatal findings with special focus on renal morphology, amount of amniotic fluid, and presence of extrarenal abnormalities. RESULTS: Most frequent diagnoses were autosomal recessive polycystic kidney disease (ARPKD, 53.1%), Meckel-Gruber syndrome (MKS, 17.3%) and autosomal dominant polycystic kidney disease (ADPKD, 8.2%). Other diagnoses included: Joubert-, Jeune-, McKusick-Kaufman- and Bardet-Biedl syndrome, overgrowth syndromes, Mainzer-Saldino syndrome and renal tubular dysgenesis. Renal abnormalities most frequently observed were hyperechogenic parenchyma, kidney enlargement, changes of corticomedullary differentiation and cystic changes of various degree. Oligo- and anhydramnios were mainly seen in ARPKD, RTD and second-trimester MKS. Extrarenal findings included skeletal (35.7%) and cardiac (34.7%) abnormalities as well as abnormalities of the central nervous system (27.6%). CONCLUSION: Gestational age at manifestation, kidney size, visibility of cysts, echogenicity, amniotic fluid volume, and the presence of associated extrarenal malformations allow to differentiate between the most frequent underlying diseases presenting with bilateral polycystic kidneys on prenatal ultrasound by following a diagnostic algorithm.
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Enfermedades Renales Poliquísticas , Riñón Poliquístico Autosómico Dominante , Riñón Poliquístico Autosómico Recesivo , Femenino , Humanos , Embarazo , Enfermedades Renales Poliquísticas/diagnóstico por imagen , Riñón/diagnóstico por imagen , Riñón/anomalías , Líquido Amniótico/diagnóstico por imagen , Ultrasonografía Prenatal , AlgoritmosRESUMEN
PURPOSE: Evaluating procedure-related complications and perinatal outcomes after intrauterine transfusion (IUT) before or after 20+0 weeks of gestation in fetuses with severe anemia due to intrauterine human parvovirus B19 infection. METHODS: A retrospective study investigating fetuses requiring IUT for fetal Parvo B19 infection in two tertiary referral centers between December 2002 and December 2021. Procedure-related complications, intrauterine fetal death (IUFD), and perinatal outcome were correlated to gestational age (GA) at first IUT, the presence of hydrops and fetal blood sampling results. RESULTS: A total of 186 IUTs were performed in 103 fetuses. The median GA at first IUT was 19+3 (13+0-31+4) weeks of gestation. IUFD occurred in 16/103 fetuses (15.5%). Overall survival was 84.5% (87/103). Hydrops (p = 0.001), lower mean hemoglobin at first IUT (p = 0.001) and low platelets (p = 0.002) were strongly associated with IUFD. There was no difference observed in fetuses transfused before or after 20+0 weeks of gestation. CONCLUSION: IUT is a successful treatment option in fetuses affected by severe anemia due to parvovirus B19 infection in specialized centers. In experienced hands, IUT before 20 weeks is not related to worse perinatal outcome.
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Anemia , Eritema Infeccioso , Infecciones por Parvoviridae , Parvovirus B19 Humano , Complicaciones Infecciosas del Embarazo , Embarazo , Femenino , Humanos , Eritema Infeccioso/complicaciones , Eritema Infeccioso/terapia , Estudios Retrospectivos , Transfusión de Sangre Intrauterina , Infecciones por Parvoviridae/complicaciones , Infecciones por Parvoviridae/terapia , Anemia/etiología , Anemia/terapia , Complicaciones Infecciosas del Embarazo/terapia , Muerte Fetal/etiología , Feto , Edema , Hidropesía Fetal/etiología , Hidropesía Fetal/terapiaRESUMEN
Aymé-Gripp syndrome is a multisystemic disorder caused by a heterozygous variation in the MAF gene (OMIM*177075). Key features are congenital cataracts, sensorineural hearing loss, and a characteristic facial appearance. In a proportion of individuals, pericardial effusion or pericarditis has been reported as part of the phenotypic spectrum. In the present case, a large persistent cytokine-enriched pericardial effusion was the main pre- and postnatal symptom that led to the clinical and later molecular diagnosis of Aymé-Gripp syndrome. In the postnatal course, the typical Aymé-Gripp syndrome-associated features bilateral cataracts and hearing loss were diagnosed. We propose that activating dominant variants in the cytokine-modulating transcription factor c-MAF causes cytokine-enriched pericardial effusions possibly representing a key feature of Aymé-Gripp syndrome.
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Catarata , Pérdida Auditiva Sensorineural , Derrame Pericárdico , Catarata/genética , Citocinas/genética , Facies , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/genética , Humanos , Derrame Pericárdico/diagnóstico , Derrame Pericárdico/genéticaRESUMEN
PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes. RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syndrome (BBS, n = 2/36, 5.5%) and Joubert syndrome (n = 1/36, 2.8%). All cases showed abnormalities of the kidneys, most often hyperechogenic parenchyma (n = 26/36, 72.2%), cystic dysplasia (n = 24/36, 66.7%), and/or bilateral kidney enlargement (n = 22/36, 61.1%). Oligohydramnios was mainly present in fetuses with MKS. Polydactyly (n = 18/36), abnormalities of the CNS (n = 25/36), and heart defects (n = 10/36) were associated in 50%, 69.4%, and 27.8%, respectively. CONCLUSION: Prenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing.
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Ciliopatías , Enfermedades Renales Poliquísticas , Polidactilia , Trastornos de la Motilidad Ciliar , Ciliopatías/genética , Encefalocele , Femenino , Feto , Humanos , Enfermedades Renales Poliquísticas/diagnóstico por imagen , Enfermedades Renales Poliquísticas/genética , Polidactilia/diagnóstico por imagen , Embarazo , Retinitis Pigmentosa , Estudios RetrospectivosRESUMEN
OBJECTIVE: The purpose of this study was to explore the outcome in fetuses with prenatal diagnosis of absent pulmonary valve syndrome (APVS) on ultrasound imaging. METHODS: A manual web scraping technique was utilized, where MEDLINE and EMBASE were searched along the combination with other relevant medical subject headings such as "absent pulmonary valve syndrome", "prenatal APVS" and "APVS/outcome". The observed outcomes encompassed the rate of chromosomal abnormalities, associations and malformations linked to APVS and fetuses with APVS. A quality assessment of the included studies was also performed. We used meta-analyses of proportions to combine data and fixed or random-effects models according to the heterogeneity of the results. RESULTS: Seven studies including 199 fetuses with APVS were included in the analysis. The median gestational age at referral to the tertiary center was 24.8 weeks. An association to tetralogy of Fallot (TOF) could be seen in 84.4% of all cases. In total 140 out of 199 cases underwent invasive testing, with a total number of 55 abnormal karyotypes [39.3% (95% CI 31.1-47.9%)]. 35.2% of the patients opted for termination of pregnancy (95% CI 28.5-42.3%). CONCLUSION: The analysis underlines the distribution of fetuses with APVS, with 84.4% of cases presenting with TOF/APVS and only 12.6% having APVS/intact ventricular septum (IVS). Larger and more prospective study analyses is now needed, especially focusing on long-term follow-up periods of fetuses and children with APVS. Particularly as the postnatal course shows great variety depending on prenatal diagnosis.
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Atresia Pulmonar , Válvula Pulmonar , Tetralogía de Fallot , Niño , Femenino , Humanos , Lactante , Embarazo , Estudios Prospectivos , Válvula Pulmonar/anomalías , Válvula Pulmonar/diagnóstico por imagen , Estudios Retrospectivos , Tetralogía de Fallot/diagnóstico por imagen , Tetralogía de Fallot/genética , Ultrasonografía Prenatal/métodosRESUMEN
PURPOSE: To evaluate the outcome of first trimester intervention by intrafetal laser (IFL) in pregnancies complicated by twin reversed arterial perfusion (TRAP). MATERIALS AND METHODS: For a 10-year study period, all patients with TRAP diagnosed <â14.0 weeks of gestation were retrospectively analyzed for intrauterine course and outcome. Monoamniotic pregnancies were excluded. Patients were offered either intervention by IFL in the first trimester, expectant management, or termination of pregnancy (TOP). Adverse outcome was defined as either intrauterine death (IUD), neonatal death, or preterm birth. RESULTS: In 45 cases TRAP was diagnosed. 17 monoamniotics were excluded. The cohort was divided into two groups according to management. Group A: 24 cases underwent IFL and group B: 4 cases were managed expectantly. No patient opted for TOP. In group A, 70.8â% of pump twins were born alive, including one preterm delivery, and 29.2â% died within four days after the intervention. All 4 expectantly managed cases in group B had an adverse outcome (1 preterm delivery, 3 IUDs <â15.0 weeks). There were no neonatal deaths. In cases treated by IFL, a comparison of survivors and non-survivors identified no significant differences in gestational age at IFL or any of the assessed biometrical and functional parameters. There was a trend towards better outcome in the second half of the study period. CONCLUSION: IFL in first trimester TRAP sequence is technically feasible but is associated with significant mortality, albeit less than previously reported. No risk stratification is possible using the investigated parameters. However, there seems to be a learning curve.
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Nacimiento Prematuro , Embarazo , Femenino , Recién Nacido , Humanos , Primer Trimestre del Embarazo , Estudios Retrospectivos , Gemelos , Edad Gestacional , Perfusión , Resultado del Embarazo , Embarazo GemelarRESUMEN
INTRODUCTION: In 2019 38 million people were living with HIV worldwide, more than half of them girls and women. Knowledge about maternal HIV status enables HIV transmission prophylaxis, reducing mother-to-child transmission<1%. We aimed to investigate the implementation of the mandatory documentation of counseling and optional HIV testing in the maternity records as recommended in the German maternity guidelines. METHODS: In the Obstetric Department of the University Hospital Bonn, maternity records were reviewed from June to October 2020, and pregnant women were interviewed regarding the patients' recall of counseling and HIV testing as well as their attitude towards a universal screening strategy using an anonymous questionnaire. RESULTS: Documentation was incomplete in 11% of maternal records: in 8% there was neither documentation of counseling nor of HIV testing, in 3% documentation of counseling only. In 291 questionnaires 47% of pregnant women could not recall counselling. 90% of pregnant women were in favor of universal HIV testing in pregnancy, 9% were undecided, and 1% opposed it. 55% would support change from an "opt-in" to an "opt-out" screening policy in pregnancy. SUMMARY: Documentation of counseling and HIV testing was incomplete in 11% of cases, and nearly half of the women could not recall counselling. New strategies from midwives and obstetricians need to be developed to achieve universal HIV testing in pregnant women leading to zero HIV mother-to-child transmissions.