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Introduction Pre-eclampsia (PE) is a common diagnosis in pregnancy and affects pregnancies worldwide. Early-onset PE often leads to severe maternal and fetal complications. Prophylactic use of aspirin (150 mg/day) before the 16th week of pregnancy can reduce the risk of PE. This study aimed to investigate the effects of maternal factors on the development of uteroplacental perfusion and fetal biometry from the first to the second trimester in a risk group receiving aspirin prophylaxis compared to a control group without Aspirin. Methods This case-control study included 448 women at high risk for PE (risk group, RG) receiving aspirin prophylaxis and 468 women at low PE risk without aspirin intake (control group, CG). Parameters recorded and considered in the first (T1) and second (T2) trimesters included uterine artery pulsatility multiple of the median (UtAPI MoM), notching at T1 and T2 and fetal biometry parameters at T2. Maternal factors were also captured, and their respective effects were examined. Results UtAPI MoM at T1 and T2 showed a significant positive correlation (r = 0.39, p < 0.001), with UtAPI MoM at T2 significantly higher for notching "yes" at T1. Pre-existing arterial hypertension and UtAPI development demonstrated a significant association (p = 0.006). Women without this risk factor showed a significantly (p < 0.001) greater decline in UtAPI development. The likelihood of notching "yes" at T2 (p < 0.001; OR: 5.80) was increased with higher UtAPI MoM at T1. The mean values (T1 and T2) of UtAPI MoM were significantly higher in the risk group than in the control group. Patients in the risk group exhibited notching at T2 (p < 0.001; OR: 5.64) more often compared to the control group. The 95% CI of the estimated fetal weight for notching "yes" at T1 was below the 50th percentile. Gestational age and head circumference/abdomen circumference (HC/AC) ratio showed a significant negative correlation (p < 0.001; b = -0.01). The control group showed significantly higher estimated fetal weights than the risk group. The HC/AC ratio in the risk group was above the HC/AC ratio in the control group but without proving significance. Conclusions Persistent notching and elevated UtAPI MoM levels in the second trimester may be risk factors for early-onset PE. Women with pre-existing arterial hypertension, notching and elevated UtAPI MoM values ââin the first and second trimesters require special monitoring during the course of pregnancy.
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Background: This study assesses the effects of the 'Radiant' image enhancement technique on fetal nuchal translucency (NT) measurements during first-trimester sonographic exams. Methods: A retrospective analysis of 263 ultrasound images of first-trimester midsagittal sections was conducted. NT measurements were obtained using a semi-automatic tool. Statistical methods were applied to compare NT measurements with and without 'Radiant' enhancement. An in vitro setup with predefined line distances provided additional data. Results: Incremental increases in NT measurements were observed with varying levels of 'Radiant' application: an average increase of 0.19 mm with 'Radiant min', 0.24 mm with 'Radiant mid', and 0.30 mm with 'Radiant max.' The in vitro results supported these findings, showing consistent effects on line thickness and measurement accuracy, with the smallest mean deviation occurring at the 'Radiant mid' setting. Conclusions: 'Radiant' image enhancement leads to significant increases in NT measurements. To avoid systematic biases in clinical assessments, it is advisable to disable 'Radiant' during NT measurement procedures. Further studies are necessary to corroborate these findings and to consider updates to the NT reference tables based on this technology.
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BACKGROUND & AIMS: Autosomal dominant polycystic liver disease is a rare condition with a female preponderance, based mainly on pathogenic variants in 2 genes, PRKCSH and SEC63. Clinically, autosomal dominant polycystic liver disease is characterized by vast heterogeneity, ranging from asymptomatic to highly symptomatic hepatomegaly. To date, little is known about the prediction of disease progression at early stages, hindering clinical management, genetic counseling, and the design of randomized controlled trials. To improve disease prognostication, we built a consortium of European and US centers to recruit the largest cohort of patients with PRKCSH and SEC63 liver disease. METHODS: We analyzed an international multicenter cohort of 265 patients with autosomal dominant polycystic liver disease harboring pathogenic variants in PRKCSH or SEC63 for genotype-phenotype correlations, including normalized age-adjusted total liver volumes and polycystic liver disease-related hospitalization (liver event) as primary clinical end points. RESULTS: Classifying individual total liver volumes into predefined progression groups yielded predictive risk discrimination for future liver events independent of sex and underlying genetic defects. In addition, disease severity, defined by age at first liver event, was considerably more pronounced in female patients and patients with PRKCSH variants than in those with SEC63 variants. A newly developed sex-gene score was effective in distinguishing mild, moderate, and severe disease, in addition to imaging-based prognostication. CONCLUSIONS: Both imaging and clinical genetic scoring have the potential to inform patients about the risk of developing symptomatic disease throughout their lives. The combination of female sex, germline PRKCSH alteration, and rapid total liver volume progression is associated with the greatest odds of polycystic liver disease-related hospitalization.
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Hospitalización , Hepatopatías , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteínas de Unión al Calcio , Quistes/genética , Quistes/diagnóstico por imagen , Quistes/patología , Progresión de la Enfermedad , Europa (Continente) , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Glucosidasas/genética , Hepatomegalia/genética , Hepatomegalia/diagnóstico por imagen , Hospitalización/estadística & datos numéricos , Hígado/patología , Hígado/diagnóstico por imagen , Hepatopatías/genética , Hepatopatías/patología , Hepatopatías/diagnóstico por imagen , Chaperonas Moleculares , Tamaño de los Órganos , Pronóstico , Medición de Riesgo , Factores de Riesgo , Proteínas de Unión al ARN , Índice de Severidad de la Enfermedad , Factores Sexuales , Estados Unidos/epidemiologíaRESUMEN
OBJECTIVE: We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell-free DNA (cfDNA) screening results for monosomy X. METHODS: From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X-chromosome variant. RESULTS: We had cfDNA results, karyotype, and phenotype data for 55 pregnancies. cfDNA results were high risk for monosomy X in 48/55, of which 23 were TP and 25 were false positive (FP). 32/48 high-risk cfDNA cases did not show fetal anomalies. Of these, 7 were TP. All were X-chromosome variants. All 16 fetuses with high-risk cfDNA result and ultrasound anomalies were TP. Of fetuses with abnormalities, those with 45,X more often had fetal hydrops/cystic hygroma, whereas those with "variant" karyotypes had different anomalies. CONCLUSION: Both, 45,X or X-chromosome variants can be detected after a high-risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or X-chromosome variant.
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Ácidos Nucleicos Libres de Células , Síndrome de Down , Síndrome de Turner , Embarazo , Humanos , Femenino , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Síndrome de Down/diagnóstico , Estudios Retrospectivos , Cromosoma X , Diagnóstico Prenatal/métodosRESUMEN
OBJECTIVE: Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith-Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes. METHOD: Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound. RESULTS: 680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive. CONCLUSION: TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.
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Hernia Umbilical , Síndrome de Turner , Embarazo , Femenino , Humanos , Síndrome de Turner/complicaciones , Síndrome de Turner/epidemiología , Síndrome de Turner/genética , Hernia Umbilical/diagnóstico por imagen , Hernia Umbilical/epidemiología , Hernia Umbilical/genética , Ultrasonografía Prenatal , Incidencia , Medida de Translucencia Nucal , Cariotipo , Edema , Feto , Fenotipo , Aberraciones CromosómicasRESUMEN
Mirror syndrome is a rare and serious maternal condition associated with immune and non-immune fetal hydrops after 16 weeks of gestational age. Subjacent conditions associated with fetal hydrops may carry different risks for Mirror syndrome. Fetuses with Turner syndrome are frequently found to be hydropic on ultrasound. We designed a retrospective multicenter study to evaluate the risk for Mirror syndrome among pregnancies complicated with Turner syndrome and fetal hydrops. Data were extracted from a questionnaire sent to specialists in maternal fetal medicine in Germany. Out of 758 cases, 138 fulfilled our inclusion criteria and were included in the analysis. Of the included 138, 66 presented with persisting hydrops at or after 16 weeks. The frequency of placental hydrops/placentomegaly was rather low (8.1%). Of note, no Mirror syndrome was observed in our study cohort. We propose that the risk of this pregnancy complication varies according to the subjacent cause of fetal hydrops. In Turner syndrome, the risk for Mirror syndrome is lower than that reported in the literature. Our observations are relevant for clinical management and parental counseling.
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PURPOSE: The purpose of this retrospective cohort study was to compare the outcome of human fetuses with isolated severe lower urinary tract obstructions (LUTO) that were first treated before the completion of 16 weeks of gestation to fetuses first treated later in gestation. PATIENTS AND METHODS: Vesicoamniotic shunt insertion (VAS) was performed in 63 subsequent fetuses with LUTO between 12 + 5 and 30 + 3 weeks. The fetuses were analyzed in three groups: Group-I-fetuses underwent their first intervention until the completion of 16 weeks, Group-II-fetuses were first treated between 16 + 1 and 24 + 0 weeks and Group-III-fetuses beyond 24 + 1 weeks. Renal and pulmonary outcome parameters and complicating factors were assessed. RESULTS: - All mothers tolerated the procedures well. Overall fetal survival was 47 of 63 (75%). The mean age at delivery of survivors was 35 weeks. 68% of Group-I-fetuses, 77% of group-II-fetuses, and 100% of group-III-fetuses survived beyond postnatal hospital discharge. Amongst the survivors the chance for normal renal function was higher for group I with 79% (15/19) compared to first fetal intervention after the completion of 16 weeks with 32% (9/28, p = 0.003, OR = 7.9 [2.0, 30.8] 95% CI). Clinically relevant pulmonary hypoplasia was observed in 11% of Group-I-, 27% of Group-II-, and 20% of Group-III-fetuses. CONCLUSIONS: Early intervention in fetal LUTO before the completion of 16 weeks may achieve a higher rate of normal renal and pulmonary function in survivors than treatment beyond that point in time. This observation is important for the future management of this challenging patient population.
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Enfermedades Uretrales , Obstrucción Uretral , Femenino , Feto , Humanos , Riñón/diagnóstico por imagen , Riñón/fisiología , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal/métodos , Enfermedades Uretrales/complicaciones , Obstrucción Uretral/complicaciones , Obstrucción Uretral/cirugía , Vejiga UrinariaRESUMEN
OBJECTIVE: Criss-cross heart (CCH) is a rare congenital cardiac defect defined by crossing of ventricular inflow streams contributing to less than 0.1â% of all congenital heart anomalies. Due to its rarity and complexity, prenatal diagnosis in these patients remains challenging. We sought to describe prenatal findings and postnatal course in eight cases of prenatally diagnosed CCH. METHODS: This is a retrospective case series of prenatally diagnosed CCH in three centers between 2010-2017. We reviewed fetal echocardiograms as well as postnatal clinical charts and surgical reports. RESULTS: 8 cases of CCH were included. The median gestational age at diagnosis was 27 weeks. 7 patients were found with situs solitus, one fetus with situs ambiguous. In all patients, the four-chamber view was abnormal. There was atrioventricular discordance in half of the patients, while all patients showed ventriculoarterial discordance. All patients were found with additional cardiac anomalies, including ventricular septal defect, double outlet right ventricle, right aortic arch, atrial septal defect and pulmonary stenosis. Three patients underwent amniocentesis without pathological findings. All patients were born alive at a median gestational age of 38â+â2 weeks and survived our median follow-up of 181 days. CONCLUSION: CCH can be diagnosed prenatally by detailed fetal echocardiography when observing an abnormal four-chamber view with crossing of inflow streams into both ventricles and a lack of parallel orientation of the atrioventricular valve axis due to a clockwise or counterclockwise rotation of the ventricular mass along its axis. With the help of prenatal ultrasound, parental guidance and counselling as well as postnatal pediatric cardiac management can be warranted.
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Corazón con Ventrículos Entrecruzados , Ventrículo Derecho con Doble Salida , Cardiopatías Congénitas , Defectos del Tabique Interventricular , Femenino , Humanos , Embarazo , Niño , Lactante , Corazón con Ventrículos Entrecruzados/diagnóstico por imagen , Estudios Retrospectivos , Ventrículo Derecho con Doble Salida/cirugía , Diagnóstico Prenatal , Ultrasonografía Prenatal , Cardiopatías Congénitas/diagnóstico por imagen , Estudios Multicéntricos como AsuntoRESUMEN
OBJECTIVES: To analyse prenatal parameters predicting biventricular (BV) outcome in pulmonary atresia with intact ventricular septum/critical pulmonary stenosis (PAIVS/CPS). METHODS: We evaluated 82 foetuses from 01/08 to 10/18 in 3 centres in intervals 1 (< 24 weeks), 2 (24-30 weeks) and 3 (> 30 weeks). RESULTS: 61/82 (74.4%) were livebirths, 5 (8.2%) lost for follow-up, 3 (4.9%) had compassionate care leaving 53 (64.6% of the whole cohort and 86.9% of livebirths) with intention to treat. 9 died, 44/53 (83.0%) survived. 24/38 (63.2%) with information on postnatal outcome had BV outcome, 14 (36.8%) non-BV outcome (2 × 1.5 circulation). One with BV outcome had prenatal valvuloplasty. Best single parameter for BV outcome was tricuspid/mitral valve (TV/MV) ratio (AUC 0.93) in intervals 2 and 3 (AUC 0.92). Ventriculo-coronary-arterial communications (VCAC) were present in 11 (78.6%) in non-BV outcome group vs. 2 (8.3%) in BV outcome group (p < 0.001). Tricuspid insufficiency (TI)-Vmax > 2.5 m/s was present in BV outcome group in75.0% (18/24) vs. 14.3% (2/14) in non-BV outcome group. Including the most predictive markers (VCAC presence, TI- Vmax < 2.5 m/s, TV/MV ratio < cutoff) to a score, non-BV outcome was correctly predicted when > 1 criterion was fulfilled in all cases. After recently published criteria for foetal intervention, only 4/9 (44.4%) and 5/14 (35.7%) in our interval 2 + 3 with predicted non-BV outcome would have been candidates for intervention. Two (1 × intrauterine intervention) in interval 2, two in interval 3 reached BV outcome and one 1.5 circulation without intervention. CONCLUSION: TV/MV ratio as simple parameter has high predictive value. After our score, non-BV outcome was correctly predicted in all cases. Criteria for foetal intervention must further be evaluated.
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Cardiopatías Congénitas/diagnóstico por imagen , Atresia Pulmonar/diagnóstico por imagen , Estenosis de la Válvula Pulmonar/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Ecocardiografía , Femenino , Humanos , Masculino , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , Atresia Pulmonar/cirugía , Estenosis de la Válvula Pulmonar/congénito , Resultado del TratamientoRESUMEN
OBJECTIVE: Congenital corrected transposition of the great arteries (ccTGA) is a rare congenital cardiac anomaly which remains difficult to diagnose prenatally. We aim to investigate the natural history, associated anomalies and the outcome of patients in prenatally diagnosed ccTGA. METHOD: This was an international multicenter retrospective analysis of fetuses with a diagnosis of ccTGA from 2002 to 2017. We reviewed clinical and echocardiographic databases of seven centers. Anatomic survey and fetal echocardiography were performed according to international guidelines of ISUOG. RESULTS: We considered 69 fetuses with prenatally suspected ccTGA. There was an overall survival rate of 91â% among 54 patients with a confirmed diagnosis. Survival to live birth was 96â% (52/54) and survival on an intention-to-treat basis was 94â% (49/52). The mean gestational age at the time of diagnosis was 25.6â±â5.9 weeks of gestation. In 7 out of 54 fetuses (13â%), ccTGA was an isolated finding. Dextro/mesocardia was present in 15 cases (27.8â%). Intracardiac anomalies were present in 46/54 cases (85.2â%) with the most frequent anomaly being a ventricular septal defect present in 41 fetuses (75.9â%). Complete heart block was diagnosed in 10 cases (18.5â%). Extracardiac anomalies were observed in 9 out of 54 cases (16.7â%). Prenatal karyotyping of the fetus was available in 30/54 (55.6â%) cases with chromosomal anomalies in 4/30 (13.3â%). CONCLUSION: ccTGA is a rare cardiac anomaly often accompanied by a variable spectrum of further intracardiac abnormalities. Accurate diagnosis of ccTGA, which can be integrated into parental counselling, is feasible with a favorable short-term outcome for affected neonates.
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Cardiopatías Congénitas , Transposición de los Grandes Vasos , Arterias , Femenino , Humanos , Recién Nacido , Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Transposición de los Grandes Vasos/diagnóstico por imagen , Ultrasonografía PrenatalRESUMEN
PURPOSE: The aim of our retrospective evaluation was to compare the outcome of patients with prenatal and postnatal diagnosis of Tetralogy of Fallot (TOF) and to analyze prenatal echocardiographic parameters predicting intervention within 30 days postnatal. MATERIALS AND METHODS: We evaluated 142 patients in our pediatric heart center and prenatal diagnosis center and prenatal practice Praenatal plus in Cologne between 01/08-06/16. RESULTS: Within the prenatal diagnosis group, 6/74 fetuses (8.1â%) had TOF with pulmonary atresia (TOF-PA), and 6 (8.1â%) had absent pulmonary valve syndrome (TOF-APVS). 14 (18.9â%) had an abnormal karyotype including 9/14 (64.3â%) with microdeletion 22q11.2. 25 (33.8â%) had extracardiac malformation. 4 (5.4â%) had agenesis of ductus arteriosus (DA), 22 (29.7â%) had right aortic arch (RAA) and 9 (12.2â%) had major aortopulmonary collateral arteries (MAPCAs). Within the postnatal diagnosis group, no patient had TOF-PA, 4/68 (5.9â%) had TOF-APVS.â12 (17.6â%) had extracardiac malformations, 9 (13.2â%) had an abnormal karyotype including 2/9 with microdeletion 22q11.2. 10 (14.7â%) had RAA, 9 (13.2â%) had MAPCAs. There were no cases with agenesis of DA. Increasing z-score values of the left/right pulmonary artery (LPA/RPA) prenatally were associated with a lower probability for early postnatal intervention (RPA: pâ=â0.017; LPA: pâ=â0.013). Within the prenatal diagnosis group, 12 of 41 (29.3â%) live-born patients with follow-up and intention to treat needed early intervention versus 7 (10.3â%) in the postnatal diagnosis group (pâ=â0.02). Within the postnatal diagnosis group, there were no deaths, while 2 (4.9â%) post-intervention deaths occurred in the prenatal diagnosis group. CONCLUSION: There are no significant differences concerning post-intervention survival in the prenatal diagnosis group versus the postnatal diagnosis group.âComplex cases may be underrepresented in the postnatal diagnosis group.âSmaller RPA/LPA values prenatally seem to be associated with early postnatal intervention.
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Cardiopatías Congénitas , Atresia Pulmonar , Tetralogía de Fallot , Femenino , Humanos , Recién Nacido , Embarazo , Diagnóstico Prenatal , Atresia Pulmonar/diagnóstico por imagen , Estudios Retrospectivos , Tetralogía de Fallot/diagnóstico por imagen , Tetralogía de Fallot/cirugía , Ultrasonografía PrenatalRESUMEN
OBJECTIVES: Cardiac remodeling due to renal dysfunction may have an impact on myocardial function (MF) of fetuses with lower urinary tract obstruction (LUTO). The aim was to identify possible differences in MF in LUTO fetuses compared with healthy controls and to look for interactions between urine biochemistry and MF indices. METHODS: This is a cohort study consisting of 31 LUTO fetuses and 45 healthy controls. Subgroups were generated according to intrauterine therapy (group 1: LUTO after therapy, group 2: LUTO without therapy at the time of examination, and group 3: controls). MF indices were measured using pulsed wave tissue Doppler imaging and M-mode. Furthermore, results of fetal urine biochemistry were gathered retrospectively. RESULTS: Among other findings, right ventricular (RV) e'/a' ratio was lower in group 1 compared with group 3 (p = .050). According to gestational age (GA) level-dependent analysis, RV isovolumetric relaxation time was significantly longer in group 2 compared with group 1 and group 3 at GA level 1 (19 wk of gestation). A significant positive correlation between RV e'/a' ratio and ß-2-microglobulin as well as α-1-microglobulin and potassium could be observed. CONCLUSION: We observed differences in MF and an association between ventricular filling pattern and renal protein secretion in LUTO fetuses. This can be interpreted as a sign of intrauterine cardiac remodeling.
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Enfermedades Fetales/fisiopatología , Feto/fisiología , Corazón/fisiología , Obstrucción Uretral/fisiopatología , Estudios de Casos y Controles , Estudios de Cohortes , Ecocardiografía Doppler , Femenino , Enfermedades Fetales/terapia , Enfermedades Fetales/orina , Fetoscopía , Edad Gestacional , Pruebas de Función Cardíaca , Humanos , Recién Nacido , Masculino , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal , Obstrucción Uretral/congénito , Obstrucción Uretral/terapia , Obstrucción Uretral/orina , Anomalías Urogenitales/fisiopatología , Anomalías Urogenitales/terapia , Anomalías Urogenitales/orina , Función Ventricular Izquierda/fisiología , Remodelación Ventricular/fisiologíaRESUMEN
PURPOSE: We compared outcome of neonates with prenatal and post-natal diagnosis of congenital heart disease presenting in our paediatric heart centre between March 2005 and May 2015 who underwent an emergent intervention within 48 h post-partum. MATERIALS AND METHODS: In 52/111 (46.8%) with emergent intervention, congenital heart disease was diagnosed prenatally, in 59/111 (53.2%) with no specialized foetal echocardiography, diagnosis was made post-natally. In 98/111 (88.2%), 30-day outcome was known. RESULTS: Regarding the entire cohort, 30-day survival did not differ significantly in prenatal and post-natal diagnosis group (71.2 vs. 72.9%; p > .1). Infants with prenatal diagnosis were more likely to be born by caesarean section (59.6% vs. 33.9%, p = .01). Those with post-natal diagnosis had a higher need for intubation (32.7% vs. 52.5%; p < .05). Subgroup analysis of HLH/HLHC (hypoplastic left heart/hypoplastic left heart complex) patients revealed higher number of deaths within 30 days of life in the post-natal diagnosis group, although the difference did not reach statistical significance (5/7, 71.4% vs. 5/20, 25.0%; p = .075). CONCLUSION: For newborns who require emergent neonatal cardiac procedures, our results point towards a lower death rate after prenatal diagnosis of HLH/HLHC.
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Procedimientos Quirúrgicos Cardíacos/mortalidad , Cardiopatías Congénitas/mortalidad , Diagnóstico Prenatal/estadística & datos numéricos , Servicios Médicos de Urgencia/estadística & datos numéricos , Alemania/epidemiología , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/cirugía , Humanos , Recién Nacido , Estudios RetrospectivosRESUMEN
PURPOSE: Myocardial function (MF) of the systemic right ventricle (RV) influences the postnatal course of neonates with hypoplastic left heart syndrome (HLHS). Our study examines whether the presence of endocardial fibroelastosis of the left ventricle (LV EFE) influences MF of the RV in HLHS fetuses. MATERIALS AND METHODS: A prospective study was conducted including 10 controls (group 1), 10 HLHS fetuses with (group 2) and 10 without LV EFE (group 3) - all matched for gestational age. M-mode was used to assess tricuspid plane systolic excursion (TAPSE) and the shortening fraction (SF). PW-Doppler-derived and PW-TDI-derived velocities were assessed. E/A, E/e', e'/a' ratios and the myocardial performance index (mpi') were calculated. RESULTS: The examination of MF revealed significantly lower s' velocities (pâ<â0.05) and higher values for SF in group 2 compared to group 3. e'/a' ratio, et' (ejection time), E wave velocity, E/e' and SF showed significantly higher values in group 2 compared to group 1. In group 2 a' velocity increased significantly over gestational age. In group 3 but not in group 2, TAPSE increased during gestation. CONCLUSION: These significant differences in MF between the groups might lend support to the notion of negative ventricular-ventricular interaction in the case of HLHS with LV EFE possibly influencing surgical outcomes.
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Fibroelastosis Endocárdica , Síndrome del Corazón Izquierdo Hipoplásico , Ecocardiografía Doppler , Fibroelastosis Endocárdica/fisiopatología , Feto , Ventrículos Cardíacos , Humanos , Recién Nacido , Estudios ProspectivosRESUMEN
Background Following the legal provisions on the termination of pregnancies in Art. 13 of the SFHG (Law on the Assistance for Pregnant Women and Families, passed on 27.07.1992, BGBl. I, p. 1398) the so-called embryopathic indication for termination was abandoned. Since then, sec. 218a para. 2 of the German Criminal Code (StGB) states that for late terminations, i.e., terminations after the 12th week of gestation post conception, the pregnant woman must be in exceptional distress "according to medical opinion". Method Between 01.05.2012 and 25.07.2016, a total of 160 pregnancy terminations were carried out in Gießen University Hospital under sec. 218a para. 2 StGB. The following data were obtained from the patients' files: age of the pregnant woman, number of pregnancies, type of fetal disease or malformation, time of diagnosis, medical and psychosocial counseling given to the pregnant woman, time of termination or delivery, type of termination, fetal gender. Results 160 pregnant women (mean age: 31.6 years) underwent termination of pregnancy between the 13th - 37th week of gestation. Chromosomal anomalies were diagnosed prenatally in 60 cases, and anomalies were diagnosed on ultrasonography in 100 cases, with the preponderance of cases presenting with developmental disorders of the central nervous system and cardiovascular system. Conclusion In addition to recording intrauterine fetal disorders, when pregnancies are terminated under sec. 218a para. 2 StGB, treating physicians are expected to give plausible reasons why "according to medical opinion" the pregnancy represents a danger to the life of the pregnant woman or of grave injury to her physical or mental health and enter these reasons in the patient's medical records.
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Objective The primary objective of this study was to determine the feasibility and reproducibility of 2-dimensional speckle tracking imaging based on the wall motion tracking (WMT) technique in fetal echocardiography. The secondary objective was to compare left and right ventricular global and segmental longitudinal peak strain values. Methods A prospective cross-sectional study was performed. Global and segmental longitudinal peak strain values of the left ventricle (LV) and right ventricle (RV) were assessed prospectively. Based on apical 4-chamber views, cine loops were acquired and digitally stored. Strain analysis was performed offline. Intra- and interobserver variabilities were analyzed. Results A total of 29 healthy fetuses with an echocardiogram performed between 19 and 37 weeks of gestation were included. Analysis was performed with a temporal resolution of 60 frames per second (fps). For both examiners, in all cases Cronbach's alpha was>0.7. The interobserver variability showed a strong agreement in 50% of the segments (ICC 0.71-0.90). The global strain values for LV and RV were -16.34 and -14.65%, respectively. Segmental strain analysis revealed a basis to apex gradient with the lowest strain values in basal segments and the highest strain values in apical segments. Conclusion The assessment of fetal myocardial deformation parameters by 2D WMT is technically feasible with good reproducibility.
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Purpose To evaluate pre- and post-procedure myocardial function in monochorionic twins with TTTS who underwent laser ablation of placental anastomoses using pulsed wave tissue Doppler imaging (pw TDI). Materials and Methods 20 monochorionic twin gestations with TTTS were included and underwent laser ablation at our center between 2011 and 2014. Prior to and after the intervention, cardiac function was assessed by measuring the mitral annular plane systolic excursion (MAPSE), the tricuspid annular plane systolic excursion (TAPSE), Tei index, isovolumetric contraction time (ICT), ejection time (ET), isovolumetric relaxation time (IRT) for the left ventricle in pulsed wave Doppler (pw D) ultrasound as well as ICT, ET, IRT and Tei index in pw TDI for the left and right ventricle. E-, A-, E´- and A´-wave peak velocity and the systolic downward motion (S´) were measured for both ventricles and the E/A, E/E´ and E´/A´ ratios were calculated. In a mean of 1.3 (SD 0.6) days after laser ablation, this measurement protocol was repeated. Results Pre-intervention recipients had longer ICT, ET and IRT in pw D and pw TDI compared to donors not reaching statistical significance for most parameters. Statistically significant were prolonged ICT in pw D (p 0.01) and ET (p 0.01) in pw TDI in recipients. In donor fetuses preoperative myocardial function did not differ significantly from postoperative myocardial function except in increased left ventricular ejection time of the left ventricle in pw TDI (p 0.04) and an increased E´/A´ratio (p 0.01). After laser coagulation, myocardial function was slightly altered in recipients as ICT and IRT shortened and Tei indices decreased but only reaching statistical significance in shortened IRTs in pw TDI for both ventricles. Conclusion Laser ablation of placental anastomoses in TTTS might influence myocardial function in the postoperative period. Shortened IRT intervals may reflect an improvement of diastolic function in recipients.
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Transfusión Feto-Fetal , Terapia por Láser , Femenino , Transfusión Feto-Fetal/terapia , Feto , Ventrículos Cardíacos , Humanos , Placenta/cirugía , Embarazo , SístoleRESUMEN
Purpose The purpose of this study was to assess the cardiac axis in fetuses with conotruncal anomalies during four-chamber view scanning. Materials and Methods We retrospectively evaluated the cardiac axis of 150 fetuses with conotruncal anomalies within the second and third trimester between October 2008 and August 2014. The cardiac axis was obtained by the angle of two lines in a transverse view of the fetal thorax at the level of the four-chamber view. The first line divided the thorax into two equal halves starting from the spine posteriorly ending at the sternum. The second line was placed through the interventricular septum of the fetal heart. The angle was calculated using OsiriX software. Results 23 had double outlet right ventricle (DORV), 17 had truncus arteriosus communis (TAC), 36 had tetralogy of Fallot (TOF), and 74 had complete transposition of the great arteries (d-TGA). In fetuses with DORV ≤â24â+â6 weeks of gestation (wks), the mean cardiac axis was 52.5° (pâ=â0.005), at ≥â25â+â0 wks it was 51.1° (pâ=â0.0003). In fetuses with TAC ≤â24â+â6 wks, the mean cardiac axis was 56.8° (pâ=â0.01), at ≥â25â+â0 wks it was 50.0° (pâ=â0.05). In fetuses with TOF ≤â24â+â6 wks, the mean cardiac axis was 67.5° (pâ<â0.0001), at ≥â25â+â0 wks it was 63.8° (pâ<â0.0001). In fetuses with d-TGA ≤â24â+â6 wks, the mean cardiac axis was 45.6°, at ≥â25â+â0 wks it was 45.4° (not significant). Throughout gestation, the cardiac axis did not show a difference in the two separate examinations. Conclusion In fetuses with DORV, TAC and TOF, the cardiac axis is significantly different from the normal axis, but in fetuses with TGA there is no significant difference compared to the normal axis. Therefore, analysis of the heart axis could be useful for screening for conotruncal anomalies.
Asunto(s)
Ecocardiografía/métodos , Cardiopatías Congénitas/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Aorta Torácica/diagnóstico por imagen , Femenino , Tabiques Cardíacos/diagnóstico por imagen , Humanos , Recién Nacido , Masculino , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Valores de Referencia , Estudios Retrospectivos , Tórax/diagnóstico por imagenRESUMEN
Purpose To evaluate pre- and postprocedural myocardial function in fetuses with moderate to severe congenital diaphragmatic hernia (CDH) who underwent FETO to improve survival and to reduce morbidity and to compare these data with fetuses and CDH not undergoing FETO and normal controls. Materials and Methods 8 fetuses with isolated left-sided CDH were included and underwent FETO at our center between 2012 and 2013. Prior to and after the operation, myocardial function was assessed by measuring the mitral annular plane systolic excursion (MAPSE), the tricuspid annular plane systolic excursion (TAPSE), Tei index, isovolumetric contraction time (ICT), ejection time (ET), isovolumetric relaxation time (IRT) for the left ventricle in PW Doppler ultrasound as well as ICT, ET, IRT and Tei index in pulsed wave tissue Doppler imaging (PW-TDI) for the left and right ventricle. The E-, A-, E'- and A'-wave peak velocity and the systolic downward motion (S') were measured for both ventricles and the E/A, E/E' and E'/A' ratios were calculated. Results were compared to fetuses with CDH not undergoing FETO and to gestational age-matched healthy controls. RESULTS: FETO was performed at 32.5 (SD 2.4) weeks of gestation. There was no statistically significant change in myocardial function in fetuses treated by FETO except a slight prolongation of the ICT of the left ventricle in PW-TDI. The myocardial function of fetuses with CDH pre- and post-FETO and fetuses with CDH without FETO was comparable to that of healthy controls. Conclusion In our series FETO did not affect myocardial function in fetuses with left-sided CDH. Although ventricular preload increases, FETO seems to have no short-term impact on fetal myocardial performance.
Asunto(s)
Oclusión con Balón/métodos , Endoscopía/métodos , Fetoscopía/métodos , Hernias Diafragmáticas Congénitas/fisiopatología , Hernias Diafragmáticas Congénitas/cirugía , Válvula Mitral/fisiopatología , Contracción Miocárdica/fisiología , Válvula Tricúspide/fisiopatología , Ecocardiografía , Ecocardiografía Doppler de Pulso , Femenino , Estudios de Seguimiento , Ventrículos Cardíacos/fisiopatología , Hemodinámica/fisiología , Humanos , Recién Nacido , Embarazo , Tercer Trimestre del Embarazo , Sístole/fisiologíaRESUMEN
OBJECTIVE: Functionally univentricular hearts (UVHs) represent cardiac anomalies in which either the pulmonary or systemic circulation cannot be supported independently. The purpose of our study was to determine perinatal outcomes after prenatal diagnosis of functionally UVH. METHODS: We retrospectively evaluated patients who presented between 2008 and June 2015 in our centre and in prenatal practice praenatal.de in Cologne. We included double inlet left ventricle (DILV), tricuspid valve atresia (TA), pulmonary valve atresia and intact ventricular septum (PA:IVS), unbalanced atrioventricular septal defect (AVSD), heterotaxy, hypoplastic left heart syndrome (HLHS) and hypoplastic left heart complex (HLHC). RESULTS: Of initially 155 patients, 128 were liveborn (82.6%). Ten neonates (7.8%) were lost to follow-up, in three (2.5%) neonates, parents decided for compassionate care. Overall survival after prenatal diagnosis of functionally UVH was 67.1%, and 90.4% on an intention-to-treat basis. Survival after surgery reached 93.7%. The majority of deaths occurred within the group of dominant RV (10/74, 13.5%). High risk HLHS with restrictive foramen ovale was associated with the lowest survival rate (13/17, 76.5%) with significant difference compared to survival rate in dominant LV (40/41, 97.6%, p < 0.05). CONCLUSION: These results should be explained to parents to ensure informed decisions and counselling. © 2016 John Wiley & Sons, Ltd.