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OBJECTIVE: To construct reference values for fetal urinary bladder distension in pregnancy and use Z-scores as a diagnostic tool to differentiate posterior urethral valves (PUV) from urethral atresia (UA). METHODS: This was a prospective cross-sectional study in healthy singleton pregnancies aimed at constructing nomograms of fetal urinary bladder diameter and volume between 15 and 35 weeks' gestation. Z-scores of longitudinal bladder diameter (LBD) were calculated and validated in a cohort of fetuses with megacystis with ascertained postnatal or postmortem diagnosis, collected from a retrospective, multicenter study. Correlations between anatomopathological findings, based on medical examination of the infant or postmortem examination, and fetal megacystis were established. The accuracy of the Z-scores was evaluated by receiver-operating-characteristics (ROC)-curve analysis. RESULTS: Nomograms of fetal urinary bladder diameter and volume were produced from three-dimensional ultrasound volumes in 225 pregnant women between 15 and 35 weeks of gestation. A total of 1238 urinary bladder measurements were obtained. Z-scores, derived from the fetal nomograms, were calculated in 106 cases with suspected lower urinary tract obstruction (LUTO), including 76 (72%) cases with PUV, 22 (21%) cases with UA, four (4%) cases with urethral stenosis and four (4%) cases with megacystis-microcolon-intestinal hypoperistalsis syndrome. Fetuses with PUV showed a significantly lower LBD Z-score compared to those with UA (3.95 vs 8.83, P < 0.01). On ROC-curve analysis, we identified 5.2 as the optimal Z-score cut-off to differentiate fetuses with PUV from the rest of the study population (area under the curve, 0.84 (95% CI, 0.748-0.936); P < 0.01; sensitivity, 74%; specificity, 86%). CONCLUSIONS: Z-scores of LBD can distinguish reliably fetuses with LUTO caused by PUV from those with other subtypes of LUTO, with an optimal cut-off of 5.2. This information should be useful for prenatal counseling and management of LUTO. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
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Feto/diagnóstico por imagen , Ultrasonografía Prenatal/estadística & datos numéricos , Uretra/anomalías , Vejiga Urinaria/diagnóstico por imagen , Vejiga Urinaria/patología , Estudios Transversales , Diagnóstico , Diagnóstico Diferencial , Duodeno/anomalías , Duodeno/diagnóstico por imagen , Duodeno/embriología , Femenino , Enfermedades Fetales/diagnóstico por imagen , Feto/embriología , Feto/patología , Humanos , Síntomas del Sistema Urinario Inferior/diagnóstico por imagen , Síntomas del Sistema Urinario Inferior/embriología , Nomogramas , Tamaño de los Órganos , Embarazo , Estudios Prospectivos , Curva ROC , Valores de Referencia , Estudios Retrospectivos , Uretra/diagnóstico por imagen , Uretra/embriología , Obstrucción Uretral/diagnóstico por imagen , Obstrucción Uretral/embriología , Vejiga Urinaria/anomalías , Vejiga Urinaria/embriologíaAsunto(s)
Betacoronavirus , Infecciones por Coronavirus/terapia , Neumonía Viral/terapia , Complicaciones Infecciosas del Embarazo/terapia , Corticoesteroides/uso terapéutico , Adulto , COVID-19 , Femenino , Heparina/uso terapéutico , Humanos , Pandemias , Embarazo , Tercer Trimestre del Embarazo , SARS-CoV-2 , Trombosis/prevención & controlRESUMEN
OBJECTIVE: Fetal megacystis presents a challenge in terms of counseling and management because of its varied etiology and evolution. The aim of this study was to present a comprehensive overview of the underlying etiologies and structural anomalies associated with fetal megacystis. METHODS: This was a retrospective multicenter study of cases referred to the fetal medicine unit of one of the eight academic hospitals in The Netherlands with a diagnosis of fetal megacystis. For each case, data on and measurements of fetal urinary tract and associated structural anomalies were collected. All available postmortem examinations and postnatal investigations were reviewed in order to establish the final diagnosis. In the first trimester, fetal megacystis was defined as longitudinal bladder diameter (LBD) ≥ 7 mm, and in the second and third trimesters as an enlarged bladder failing to empty during an extended ultrasound examination lasting at least 40 min. RESULTS: Of the 541 pregnancies with fetal megacystis, it was isolated (or solely accompanied by other signs of lower urinary tract obstruction (LUTO)) in 360 (67%) cases and associated with other abnormal ultrasound findings in 181 (33%) cases. The most common associated ultrasound anomaly was an increased nuchal translucency thickness (22%), followed by single umbilical artery (10%) and cardiac defect (10%). A final diagnosis was established in 418 cases, including 222 (53%) cases with isolated LUTO and 60 (14%) infants with normal micturition or minor isolated urological anomalies. In the remaining 136 (33%) cases, concomitant developmental or chromosomal abnormality or genetic syndrome was diagnosed. Overall, 40 chromosomal abnormalities were diagnosed, including trisomy 18 (n = 24), trisomy 21 (n = 5), Turner syndrome (n = 5), trisomy 13 (n = 3) and 22q11 deletion (n = 3). Thirty-two cases presented with anorectal malformations involving the anus, rectum and urogenital tract. In cases with confirmed urethral and anal atresia, megacystis occurred early in pregnancy and the bladder appeared severely distended (the LBD (in mm) was equal to or greater than twice the gestational age (in weeks)). Fetal macrosomia was detected in six cases and an overgrowth syndrome was detected in four cases, comprising two infants with Beckwith-Wiedemann syndrome and two with Sotos syndrome. Megacystis-microcolon-intestinal hypoperistalsis syndrome was diagnosed in five (1%) cases and prenatally suspected only in one case. CONCLUSIONS: Although the main cause of fetal megacystis is LUTO, an enlarged fetal bladder can also be present as a concomitant finding of miscellaneous genetic syndromes, developmental disturbances and chromosomal abnormalities. We provide an overview of the structural anomalies and congenital disorders associated with fetal megacystis and propose a practical guide for the differential diagnosis of genetic syndromes and chromosomal and developmental abnormalities in pregnancies presenting with fetal megacystis, focusing on the morphological examination of the fetus. © 2018 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.
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Anomalías Múltiples/diagnóstico por imagen , Colon/anomalías , Seudoobstrucción Intestinal/diagnóstico por imagen , Ultrasonografía Prenatal , Vejiga Urinaria/anomalías , Anomalías Múltiples/patología , Colon/diagnóstico por imagen , Colon/patología , Femenino , Humanos , Seudoobstrucción Intestinal/congénito , Seudoobstrucción Intestinal/patología , Países Bajos , Embarazo , Resultado del Embarazo , Estudios Retrospectivos , Vejiga Urinaria/diagnóstico por imagen , Vejiga Urinaria/patologíaRESUMEN
OBJECTIVE: To propose a staging system for congenital lower urinary tract obstruction (LUTO) capable of predicting the severity of the condition and its prognosis. METHODS: This was a national retrospective study carried out at the eight Academic Hospitals in The Netherlands. We collected prenatal and postnatal data of fetuses at high risk of isolated LUTO that were managed conservatively. Postnatal renal function was assessed by the estimated glomerular filtration rate (eGFR), calculated using the Schwartz formula, considering the length of the infant and the creatinine nadir in the first year after birth. Receiver-operating characteristics (ROC) curve analysis, univariate analysis and multivariate logistic regression analysis with stepwise backward elimination were performed in order to identify the best antenatal predictors of perinatal mortality and postnatal renal function. RESULTS: In total, 261 fetuses suspected of having LUTO and managed conservatively were included in the study. The pregnancy was terminated in 110 cases and perinatal death occurred in 35 cases. Gestational age at appearance of oligohydramnios showed excellent accuracy in predicting the risk of perinatal mortality with an area under the ROC curve of 0.95 (P < 0.001) and an optimal cut-off at 26 weeks' gestation. Fetuses with normal amniotic fluid (AF) volume at 26 weeks' gestation presented with low risk of poor outcome and were therefore defined as cases with mild LUTO. In fetuses referred before the 26th week of gestation, the urinary bladder volume (BV) was the best unique predictor of perinatal mortality. ROC curve analysis identified a BV of 5.4 cm3 and appearance of oligohydramnios at 20 weeks as the best threshold for predicting an adverse outcome. LUTO cases with a BV ≥ 5.4 cm3 or abnormal AF volume before 20 weeks' gestation were defined as severe and those with BV < 5.4 cm3 and normal AF volume at the 20 weeks' scan were defined as moderate. Risk of perinatal mortality significantly increased according to the stage of severity, from mild to moderate to severe stage, from 9% to 26% to 55%, respectively. Similarly, risk of severely impaired renal function increased from 11% to 31% to 44%, for mild, moderate and severe LUTO, respectively. CONCLUSIONS: Gestational age at appearance of oligo- or anhydramnios and BV at diagnosis can accurately predict mortality and morbidity in fetuses with LUTO. Our proposed staging system can triage reliably fetuses with LUTO and predict the severity of the condition and its prognosis. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.
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Enfermedades Fetales/diagnóstico , Oligohidramnios/diagnóstico por imagen , Obstrucción Uretral/diagnóstico , Vejiga Urinaria/diagnóstico por imagen , Tratamiento Conservador , Femenino , Edad Gestacional , Tasa de Filtración Glomerular , Humanos , Lactante , Recién Nacido , Modelos Logísticos , Mortalidad Perinatal , Valor Predictivo de las Pruebas , Embarazo , Curva ROC , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Ultrasonografía Prenatal , Obstrucción Uretral/clasificación , Obstrucción Uretral/congénito , Obstrucción Uretral/mortalidad , Vejiga Urinaria/anomalías , Vejiga Urinaria/embriologíaRESUMEN
This pilot study aimed at investigating if implants without primary stability may osseointegrate and support functional prosthesis. Patients received one Trabecular Metal implant each in posterior sockets two months after tooth extraction, combined with xenograft and a resorbable membrane. Implants were divided in three groups, based on the primary stability assessed by resonance frequency analysis. Implant stability quotient (ISQ) was measured at placement, and re-assessed five months later (at uncovering), and after 6 months of function. Marginal bone loss was radiographically evaluated. After checking normality of the distributions, Student's t-test was used for statistical comparisons. Twenty-five consecutive patients were included. At placement, mean ISQ significantly differed among groups, being undetectable (n=8 implants), 65.00±4.25 (standard deviation, n=6) and 77.95±3.13 (n=11) in the very low, medium and good primary stability groups, respectively. After five months of healing, mean ISQ had increased to >70 in all groups. All implants successfully osseointegrated and were restored as planned. Six months after loading, no significant difference in mean ISQ (range 79.19-81.92), and in mean marginal bone level change (range 0.21 to 0.28 mm) was observed among the three groups. Rehabilitation of wide postextraction defects may achieve successful outcomes even in the absence of primary stability.
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Implantes Dentales , Oseointegración , Extracción Dental , Humanos , Proyectos Piloto , Cicatrización de HeridasRESUMEN
OBJECTIVES: The main aim of this study was to assess the proportion and type of congenital anomalies, both structural and chromosomal, that can be detected at an early scan performed at 12-13 weeks' gestation, compared with at the 20-week structural anomaly scan offered under the present screening policy. Secondary aims were to evaluate the incidence of false-positive findings and ultrasound markers at both scans, and parental choice regarding termination of pregnancy (TOP). METHODS: Sonographers accredited for nuchal translucency (NT) measurement were asked to participate in the study after undergoing additional training to improve their skills in late first-trimester fetal anatomy examination. The early scans were performed according to a structured protocol, in six ultrasound practices and two referral centers in the north-east of The Netherlands. All women opting for the combined test (CT) or with an increased a-priori risk of fetal anomalies were offered a scan at 12-13 weeks' gestation (study group). All women with a continuing pregnancy were offered, as part of the 'usual care', a 20-week anomaly scan. RESULTS: The study group consisted of 5237 women opting for the CT and 297 women with an increased a-priori risk of anomalies (total, 5534). In total, 51 structural and 34 chromosomal anomalies were detected prenatally in the study population, and 18 additional structural anomalies were detected after birth. Overall, 54/85 (63.5%) anomalies were detected at the early scan (23/51 (45.1%) structural and all chromosomal anomalies presenting with either an increased risk at first-trimester screening or structural anomalies (31/34)). All particularly severe anomalies were detected at the early scan (all cases of neural tube defect, omphalocele, megacystis, and multiple severe congenital and severe skeletal anomalies). NT was increased in 12/23 (52.2%) cases of structural anomaly detected at the early scan. Of the 12 cases of heart defects, four (33.3%) were detected at the early scan, five (41.7%) at the 20-week scan and three (25.0%) after birth. False-positive diagnoses at the early scan and at the 20-week scan occurred in 0.1% and 0.6% of cases, respectively, whereas ultrasound markers were detected in 1.4% and 3.0% of cases, respectively. After first- or second-trimester diagnosis of an anomaly, parents elected TOP in 83.3% and 25.8% of cases, respectively. CONCLUSIONS: An early scan performed at 12-13 weeks' gestation by a competent sonographer can detect about half of the prenatally detectable structural anomalies and 100% of those expected to be detected at this stage. Particularly severe anomalies, often causing parents to choose TOP, are amenable to early diagnosis. The early scan is an essential part of modern pregnancy care. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.
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Anomalías Congénitas , Pruebas de Detección del Suero Materno/estadística & datos numéricos , Medida de Translucencia Nucal/estadística & datos numéricos , Trisomía/genética , Adolescente , Adulto , Aberraciones Cromosómicas , Anomalías Congénitas/diagnóstico por imagen , Anomalías Congénitas/epidemiología , Anomalías Congénitas/genética , Reacciones Falso Positivas , Femenino , Edad Gestacional , Humanos , Tamizaje Masivo , Persona de Mediana Edad , Embarazo , Resultado del Embarazo/epidemiología , Primer Trimestre del Embarazo , Adulto JovenRESUMEN
OBJECTIVE: To propose a clinical score for the optimal antenatal diagnosis of fetal lower urinary tract obstruction (LUTO) in the second and third trimesters of pregnancy, as an alternative to the commonly used ultrasound triad of megacystis, keyhole sign and hydronephrosis. METHODS: This was a national retrospective study carried out at the eight tertiary fetal medicine units (FMUs) in The Netherlands. Only cases referred for megacystis from the second trimester onwards and with a clear postnatal diagnosis were included in the study. At referral, data were collected on amniotic fluid volume, renal cortical appearance, bladder volume, hydronephrosis, fetal ascites, ureteral size, keyhole sign, fetal sex and gestational age. Multivariate analysis was performed, starting by including all antenatal variables, and then excluding the weakest predictors using the backward stepwise strategy. RESULTS: Over a 7-year period, 312 fetuses with a diagnosis of megacystis were referred to the eight Dutch tertiary FMUs. A final diagnosis was achieved in 143 cases, including 124 of LUTO and 19 reclassified after birth as non-obstructive megacystis. The optimal bladder volume cut-off for prediction of LUTO was 35 cm3 (area under the curve (AUC) = 0.7, P = 0.03). The clinical score formulated on the basis of the multivariate analysis included fetal sex, degree of bladder distension, ureteral size, oligo- or anhydramnios and gestational age at referral. The combination of these five variables demonstrated good accuracy in discriminating LUTO from non-obstructive megacystis (AUC = 0.84, P < 0.001), compared with the poor performance of the ultrasound triad (AUC = 0.63, P = 0.07). CONCLUSIONS: We propose a clinical score that combines five antenatal variables for the prospective diagnosis of congenital LUTO. This score showed good discriminative capacity in predicting LUTO, and better diagnostic accuracy compared with that of the classic ultrasound triad. Future studies to validate these results should be carried out in order to refine antenatal management of LUTO and prevent inappropriate fetal interventions. © 2017 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.
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Duodeno/anomalías , Enfermedades Fetales/diagnóstico , Hidronefrosis/diagnóstico , Diagnóstico Prenatal/métodos , Vejiga Urinaria/anomalías , Femenino , Edad Gestacional , Humanos , Masculino , Embarazo , Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Estudios RetrospectivosRESUMEN
OBJECTIVES: To investigate the natural history of fetal megacystis from diagnosis in utero to postnatal outcome, and to identify prognostic indicators of spontaneous resolution and postnatal outcome after resolution. METHODS: This was a national retrospective cohort study. Fetal megacystis was defined in the first trimester as a longitudinal bladder diameter (LBD) ≥ 7 mm, and in the second and third trimesters as an enlarged bladder failing to empty during the entire extended ultrasound examination. LBD and gestational age (GA) at resolution were investigated with respect to likelihood of resolution and postnatal outcome, respectively. Sensitivity, specificity and area under the receiver-operating characteristics curve (AUC) were calculated. RESULTS: In total, 284 cases of fetal megacystis (93 early megacystis, identified before the 18th week, and 191 late megacystis, identified at or after the 18th week) were available for analysis. Spontaneous resolution occurred before birth in 58 (20%) cases. In cases with early megacystis, LBD was predictive of the likelihood of spontaneous resolution (sensitivity, 80%; specificity, 79%; AUC, 0.84), and, in the whole population, GA at regression was predictive of postnatal outcome, with an optimal cut-off at 23 weeks (sensitivity, 100%; specificity, 82%; AUC, 0.91). In the group with early megacystis, the outcome was invariably good when resolution occurred before the 23rd week of gestation, whereas urological sequelae requiring postnatal surgery were diagnosed in 3/8 (38%) cases with resolution after 23 weeks. In the group with late megacystis, spontaneous resolution was associated with urological complications after birth, ranging from mild postnatal hydronephrosis in infants with resolution before 23 weeks, to more severe urological anomalies requiring postnatal surgery in those with resolution later in pregnancy. This supports the hypothesis that an early resolution of megacystis is often related to a paraphysiological bladder enlargement that resolves early in pregnancy without consequences, while antenatal resolution occurring later in pregnancy (after the 23rd week of gestation) should suggest a pathological condition with urological sequelae. CONCLUSIONS: In fetal megacystis, LBD and GA at regression can be used as predictors of resolution and outcome, respectively. These parameters could help in fine-tuning the prognosis and optimizing the frequency of follow-up scans. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.
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Duodeno/anomalías , Enfermedades Fetales/diagnóstico por imagen , Ultrasonografía Prenatal , Vejiga Urinaria/anomalías , Vejiga Urinaria/diagnóstico por imagen , Duodeno/diagnóstico por imagen , Duodeno/patología , Femenino , Enfermedades Fetales/patología , Edad Gestacional , Humanos , Embarazo , Resultado del Embarazo , Primer Trimestre del Embarazo , Pronóstico , Curva ROC , Remisión Espontánea , Estudios Retrospectivos , Vejiga Urinaria/embriología , Vejiga Urinaria/patologíaRESUMEN
Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detail the prenatal clinical and sonographic findings of a recently described hereditary caudal regression syndrome, in four fetuses reported to be homozygous for a mutation in the T (brachyury) gene. The syndrome occurred in three consanguineous, but unrelated families, originating from the same geographical area. All affected fetuses had persistence of the notochord in association with abnormal vertebral ossification, sacral agenesis, and bilateral clubfoot. These findings suggest that, in case of prenatal diagnosis of sacral agenesis, an advanced ultrasound examination should assess the vertebral ossification and the rare persistence of the notochord, in order to rule the involvement of the T gene.
RESUMEN
One of the most important muscular groups which contribute to maintain standing balance is triceps surae. However, it is unclear whether the postural controllers of triceps surae, medial gastrocnemius (MG) and soleus (SOL), have different temporal patterns of activation during upright stance. This paper aimed at evaluating whether the global temporal activation in triceps surae differ among young subjects during standing balance. Nine male volunteers performed two tasks: standing quietly and with voluntary back and forward sways over their ankle. Electromyograms (EMGs) from soleus medial (MSOL) and lateral (LSOL) regions and from MG were sampled with linear arrays of surface electrodes. The percentage of muscle activation in time (i.e. temporal index) was computed for each muscle during upright standing. The results revealed that the medial portion of soleus muscle (MSOL) was activated continuously compared to the lateral portion of soleus (LSOL) and MG, which were activated intermittently. Therefore, the global temporal activation differed among the postural muscles of triceps surae during standing balance.