RESUMEN
PURPOSE: To evaluate reproducibility of fetal renal pelvis volume as assessed by the Virtual Organ Computer Aided AnaLysis (VOCAL) imaging program and by Automatic Volume Calculation (SonoAVC). In addition, the intra- and interobserver reliability of fetal renal pelvis volume measurements with SonoAVC were established. METHODS: In this study, the fetal renal pelvis volume was measured using 3D ultrasonography in 76 kidneys of 66 fetuses with renal pelvis dilatation in the second or third trimester of pregnancy. After volume acquisition by one observer, the reproducibility of volume calculation was assessed using VOCAL imaging program and SonoAVC by two observers. Intra- and interobserver reproducibility was evaluated by calculating intraclass correlation coefficients (ICC), coefficient of variation (CV) and repeatability coefficient (r). Bland-Altman plots were generated to explore agreement. RESULTS: A high degree of reproducibility was observed between VOCAL and SonoAVC, ICC of 0.989; 95% CI 0.983-0.993, respectively. Intraobserver reproducibility of volume measurements performed by SonoAVC demonstrated a high degree of reliability with ICC of 0.995 (95% CI 0.993-0.997), CV 6.05% and r of 0.75. The interobserver reproducibility with ICC of 0.995 (95% CI 0.992-0.997), CV 10.14% and r 1.21 was also indicative of good reliability. CONCLUSION: Volume measurements of fetal renal pelvis performed by SonoAVC renders reproducible measurements in comparison with the VOCAL imaging program. There is no significant difference between VOCAL imaging program and SonoAVC. The intra- and interobserver reliability of the fetal renal pelvis measurements made by SonoAVC were considered to be very good. SonoAVC, however, needs post processing in the majority of cases but is less time consuming than VOCAL.
Asunto(s)
Interpretación de Imagen Asistida por Computador , Imagenología Tridimensional , Pelvis Renal/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Femenino , Humanos , Hidronefrosis/diagnóstico por imagen , Pelvis Renal/anatomía & histología , Modelos Estadísticos , Variaciones Dependientes del Observador , Tamaño de los Órganos , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Reproducibilidad de los ResultadosRESUMEN
OBJECTIVE: The aim of this study is to assess the correlation of the average antero-posterior, transverse and longitudinal diameters of the fetal renal pelvis to neonatal outcome. METHODS: This retrospective study evaluates the neonatal outcome of all fetuses with suspected pyelectasis on ultrasonographic examination between May 1997 and March 2006. During this time, 764 fetuses with pyelectasis and 1285 renal units were scanned. We defined fetal pyelectasis as mild if the ARP was ≥ 5-<10 mm, moderate if ARP ≥ 10-<15 mm and severe if ARP ≥ 15 mm. A total of 612 fetuses met the inclusion criteria. The Corteville criteria in the third trimester (antero-posterior diameter ≥ 7 mm) and an antero-posterior diameter (AP) of ≥ 10 mm were compared with the ARP and likelihood ratio's calculated. Ultrasonographic evaluation took place in the third trimester if fetal pyelectasis was diagnosed as an isolated finding in the second trimester. This last ultrasonographic examination was used for final analysis and as a guideline for postnatal follow-up. Neonatal outcome was assessed by reviewing medical records, ultrasonographic, renographic and voiding cysto-urethrographic results. RESULTS: Of all the fetuses diagnosed with renal pelvis dilatation in the third trimester of pregnancy, 73 (11.9%) infants needed postnatal surgery. The majority of the postnatal surgery was performed in the group of fetuses with severe hydronephrosis (8.2%). This resulted in a LR of 5.81 and a post-test probability of 61.3%. In total, 78.8% of the fetuses with hydronephrosis had spontaneous resolution across all grades of severity on the first postnatal ultrasonogaphic investigation or during their follow-up. In 9.3% of the cases, uropathies were diagnosed, but no surgical intervention had taken place during the follow-up period. Using the Corteville criteria as gold standard for the third trimester (AP ≥ 7 mm), 11 (1.8%) patients would not have been diagnosed with uropathies. And in the case of AP ≥ 10 mm, 5.1% of the cases would have been missed. CONCLUSION: An ARP of ≥ 5 mm in the second and/or third trimester of pregnancy enables a better detection of patients with uropathies and indication for surgery as compared with AP ≥ 10 mm, but renders almost similar results compared with the Cortville criteria (AP ≥ 7 mm) in the third trimester.
Asunto(s)
Hidronefrosis/congénito , Pelvis Renal/diagnóstico por imagen , Pielectasia/diagnóstico por imagen , Femenino , Humanos , Hidronefrosis/diagnóstico por imagen , Recién Nacido , Masculino , Embarazo , Estudios Retrospectivos , Ultrasonografía PrenatalRESUMEN
OBJECTIVE: To compare the actual situation in tertiary perinatal care in the Netherlands with the objectives laid down in the 2001 decree on perinatal care by the Dutch Ministry of Health, Welfare and Sport. DESIGN: Descriptive, retrospective. METHOD: Data on tertiary perinatal care, the transfer or refusal of women with very endangered pregnancies and the personnel of obstetric high care (OHC) units in 2006 were compared with the targets laid down in the planning decree on perinatal care and in a report by the Dutch Health Council from 2000. Parameters of tertiary perinatal care output were the number of admissions, and the number of beds in OHC units and neonatal intensive care units (NICU). RESULTS: In 2006, 128 of the 250 beds intended for OHC had been obtained. The degree of capacity utilisation was 94%, while the norm is 80%. 312 women were transferred due to lack of capacity of OHC units and NICU. The number of staff, specialised physicians as well as nurses, was considerably lower than the planned capacity. But training for obstetric perinatologists and OHC nurses was given. CONCLUSION: The targets for the number of beds for tertiary obstetric care and associated medical personnel have not been achieved as yet. As a consequence, the number of transfers is still too high. The funding of OHC units is not attuned to the complexity of tertiary perinatal care. Closer supervision of the execution of the planning decree and an adequate financing system are needed to achieve the objectives of the planning decree in the next 3 years.
Asunto(s)
Unidades de Cuidado Intensivo Neonatal , Centros de Salud Materno-Infantil/normas , Transferencia de Pacientes/estadística & datos numéricos , Atención Perinatal/normas , Calidad de la Atención de Salud , Ocupación de Camas/estadística & datos numéricos , Femenino , Accesibilidad a los Servicios de Salud/estadística & datos numéricos , Necesidades y Demandas de Servicios de Salud , Capacidad de Camas en Hospitales , Humanos , Unidades de Cuidado Intensivo Neonatal/normas , Unidades de Cuidado Intensivo Neonatal/estadística & datos numéricos , Partería , Países Bajos , Embarazo , Estudios RetrospectivosRESUMEN
OBJECTIVE: To assess the reproducibility of fetal renal pelvis volume measurement in hydronephrotic kidneys using transabdominal three-dimensional (3D) ultrasound. METHODS: The fetal renal pelvis volume was measured using 3D ultrasound in one kidney in each of 15 fetuses with hydronephrosis in the second or third trimester of pregnancy. Hydronephrosis was diagnosed when the fetus had an anteroposterior renal pelvis diameter > or = 5 mm. After volume acquisition by one of the observers, the repeatability of volume calculation with manual delineation of the fetal renal pelvis was assessed by six different observers using the Virtual Organ Computer-aided AnaLysis (VOCAL(trade mark)) imaging program. The intraclass correlation coefficients (ICC), coefficient of variation (CV) and within- and between-observer repeatability coefficient (r) were calculated and Bland-Altman plots were constructed. RESULTS: Both intra- and interobserver reliability of the fetal renal pelvis volume measurements were considered to be very good. For intraobserver reliability, the ICC was 0.996 and the CV was 10.8%. For the overall interobserver reliability, the ICC was 0.998 and the CV was 15.7%; the interobserver reliability between pairs of observers had ICCs between 0.994 and 0.999, and CVs between 19.5% and 7.6% for inexperienced and experienced observers, respectively. CONCLUSION: With 3D ultrasound using the VOCAL imaging program, it is technically feasible to reproduce fetal renal pelvis volume measurements. Further research to establish the clinical applications of this technology is warranted.
Asunto(s)
Hidronefrosis/diagnóstico por imagen , Interpretación de Imagen Asistida por Computador/métodos , Imagenología Tridimensional/métodos , Pelvis Renal/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Análisis de Varianza , Femenino , Humanos , Hidronefrosis/embriología , Pelvis Renal/embriología , Variaciones Dependientes del Observador , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Reproducibilidad de los ResultadosRESUMEN
The majority of neonatal Herpes Simplex Virus (HSV) infections are acquired at birth as a consequence of direct fetal contact with the infected birth canal or through an ascending infection after premature rupture of the amniotic membranes. Intrauterine transmission of HSV infection from mother to the fetus is rare; in only 5% of the cases it occurs from haematogenous transplacental dissemination. We present a case of transplacental intrauterine HSV infection after a primary maternal HSV infection in the first trimester of pregnancy. The diagnosis was assessed by viral culture and serologic tests. Ultrasound imaging revealed fetal brain damage in the third trimester. Finally, the MRI showed the devastating extensiveness of the HSV infection, which was beyond the expectation based on the ultrasound images.
Asunto(s)
Encéfalo/patología , Herpes Genital/complicaciones , Transmisión Vertical de Enfermedad Infecciosa , Imagen por Resonancia Magnética/métodos , Complicaciones Infecciosas del Embarazo/diagnóstico , Adulto , Encéfalo/diagnóstico por imagen , Encéfalo/embriología , Encéfalo/virología , Femenino , Enfermedades Fetales/patología , Enfermedades Fetales/virología , Herpes Genital/diagnóstico , Humanos , Masculino , Embarazo , Complicaciones Infecciosas del Embarazo/diagnóstico por imagen , Radiografía , UltrasonografíaAsunto(s)
Coagulantes/uso terapéutico , Factor VII/uso terapéutico , Hemorragia Posparto/tratamiento farmacológico , Adulto , Transfusión de Componentes Sanguíneos , Factor VIIa , Femenino , Humanos , Hemorragia Posparto/terapia , Embarazo , Proteínas Recombinantes/uso terapéutico , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
The detection of echodense fetal bowel on ultrasound examination in the second trimester of pregnancy justifies invasive procedures such as amniocentesis to detect an underlying cause. We present a case in which initial tests identified only one mutation in the cystic fibrosis transmembrane regulator (CFTR)-gene of the fetus, the family history being negative for CF. Strongly reduced intestinal enzyme activities suggested intestinal obstruction and further increased the estimated risk for CF. After the 24th gestational week, a second mutation was found, confirming cystic fibrosis in this child. Problems in counseling in this particular case are discussed.
Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/diagnóstico , Fibrosis Quística/genética , Enfermedades Fetales/diagnóstico por imagen , Asesoramiento Genético , Intestinos/patología , Ultrasonografía Prenatal , Adulto , Femenino , Feto/anomalías , Humanos , Recién Nacido , Intestinos/embriología , Masculino , EmbarazoRESUMEN
OBJECTIVE: We examined women's long-term psychological well-being after termination of pregnancy (TOP) for fetal anomaly in order to identify risk factors for psychological morbidity. METHODS: A cross-sectional study was performed in 254 women, 2 to 7 years after TOP for fetal anomaly before 24 weeks of gestation. We used standardised questionnaires to investigate grief, posttraumatic symptoms, and psychological and somatic complaints. RESULTS: Women generally adapted well to grief. However, a substantial number of the participants (17.3%) showed pathological scores for posttraumatic stress. Low-educated women and women who had experienced little support from their partners had the most unfavourable psychological outcome. Advanced gestational age at TOP was associated with higher levels of grief, and posttraumatic stress symptoms and long-term psychological morbidity was rare in TOP before 14 completed weeks of gestation. Higher levels of grief and doubt were found if the fetal anomaly was presumably compatible with life. CONCLUSION: Termination of pregnancy for fetal anomaly is associated with long-lasting consequences for a substantial number of women. Clinically relevant determinants are gestational age, perceived partner support, and educational level.
Asunto(s)
Aborto Inducido/efectos adversos , Aborto Inducido/psicología , Enfermedades Fetales , Trastornos Mentales/etiología , Estrés Psicológico/etiología , Adulto , Anomalías Congénitas , Estudios Transversales , Femenino , Humanos , Persona de Mediana Edad , EmbarazoRESUMEN
A fetal patient presented at 27.3 weeks of gestation with polyhydramnion. Ultrasound examination showed enlarged cerebral ventricles, abnormal position of the fingers and abnormal external genitals. Chromosome studies in chorionic villus material were normal male: in cultured amniocytes a distal deletion 14q32 was demonstrated and confirmed by FISH analysis. The baby was born at 37 weeks and died spontaneously during labour. This is the first report of prenatal diagnosis of a terminal 14q deletion.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 14 , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/diagnóstico por imagen , Análisis Citogenético , Muerte Fetal , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Masculino , Diagnóstico Prenatal , UltrasonografíaRESUMEN
Two patients with a trisomy 7p are reported. Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.
Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 7 , Trisomía , Preescolar , Análisis Citogenético , Femenino , Humanos , Recién Nacido , Cariotipificación , MasculinoAsunto(s)
Ascitis/etiología , Insuficiencia Cardíaca/etiología , Enfermedades por Almacenamiento Lisosomal/complicaciones , Diuréticos/uso terapéutico , Femenino , Humanos , Recién Nacido , Enfermedades por Almacenamiento Lisosomal/diagnóstico , Enfermedades por Almacenamiento Lisosomal/fisiopatología , Enfermedades por Almacenamiento Lisosomal/terapia , Neuraminidasa/deficiencia , Embarazo , Diagnóstico Prenatal , Resultado del Tratamiento , beta-Galactosidasa/deficienciaRESUMEN
Lethal hypophosphatasia, spur type: case report and fetopathological study: Hypophosphatasia (HP) is characterised by severe undermineralisation of the skeleton owing to deficiency of tissue nonspecific alkaline phosphatase. Clinically a perinatal, infantile, childhood and adult type is distinguished. Clinical signs in the perinatal type of HP show considerable overlap with other skeletal dysplasias such as osteogenesis imperfecta type IIA and type IIC, and achondrogenesis type IA. If present, "spurs" of the limbs are diagnostic for HP. We present a prenatally diagnosed case of HP and discuss the differential diagnosis based on clinical, radiological and pathological findings. Our findings indicate that two types of spurs can be distinguished in hypophosphatasia: midshaft type and joint type.
Asunto(s)
Enfermedades Fetales/patología , Hipofosfatasia/patología , Adulto , Consanguinidad , Diagnóstico Diferencial , Resultado Fatal , Femenino , Muerte Fetal , Feto/diagnóstico por imagen , Feto/patología , Edad Gestacional , Humanos , Embarazo , RadiografíaRESUMEN
We present 5 unrelated patients, 3 boys and 2 girls, with Pfeiffer syndrome (PS) type 2. They all had cloverleaf skull, severe proptosis, ankylosis of the elbows, broad thumbs and/or broad halluces and variable accompanying anomalies. We review the literature on all subtypes of PS. Most patients with PS type 2 died shortly after birth. Causes of death include pulmonary problems, brain abnormalities, prematurity and post-operative complications. DNA studies were performed in 3 of the 5 patients. Two of them showed a 1036T --> C mutation in the fibroblast growth factor receptor 2 (FGFR2) gene, that was earlier reported in PS and in Crouzon syndrome. Probably most, if not all, PS type 2 cases are caused by a de novo mutation in the FGFR2 gene or in another, yet unidentified gene. To date all type 2 cases have been non-familial. A low recurrence risk for parents can be advised.
Asunto(s)
Acrocefalosindactilia/genética , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Acrocefalosindactilia/clasificación , Acrocefalosindactilia/patología , Preescolar , Femenino , Muerte Fetal/genética , Factores de Crecimiento de Fibroblastos/genética , Factores de Crecimiento de Fibroblastos/metabolismo , Humanos , Recién Nacido , Masculino , Proteínas Tirosina Quinasas Receptoras/genética , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos , Receptores de Factores de Crecimiento de Fibroblastos/genéticaRESUMEN
We report a male infant with de la Chapelle dysplasia (atelosteogenesis type II), a skeletal dysplasia characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia. This is a rare condition with only 10 patients described in the literature. We report the clinical, radiographical and histopathological data and summarize the data on the total of 11 patients. Differential diagnosis with diastrophic dysplasia and atelosteogenesis (type I) is discussed. On clinical and histological grounds we hypothesize that de la Chapelle dysplasia and diastrophic dysplasia are closely related. The mode of inheritance is autosomal recessive.
Asunto(s)
Fisura del Paladar/patología , Osteocondrodisplasias/patología , Adulto , Asfixia Neonatal , Autopsia , Fisura del Paladar/diagnóstico por imagen , Fisura del Paladar/genética , Enfermedades en Gemelos , Resultado Fatal , Femenino , Genes Recesivos , Humanos , Recién Nacido , Masculino , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/genética , RadiografíaRESUMEN
Diamine oxidase in vaginal effluent is used as a parameter for ascertaining the state of fetal membranes. A new method using tritiated putrescine as a substrate is described for the determination of diamine oxidase in amniotic fluid and vaginal effluents. A number of tests are used for the diagnosis of premature rupture of fetal membranes. The described procedure for diamine oxidase activity determination can be used in general hospitals and has advantages over other parameters such as pH, glucose or fructose concentration, and the amniotic fluid crystallization test.
Asunto(s)
Amina Oxidasa (conteniendo Cobre)/análisis , Líquido Amniótico/enzimología , Rotura Prematura de Membranas Fetales/diagnóstico , Moco del Cuello Uterino/enzimología , Estabilidad de Enzimas , Femenino , Rotura Prematura de Membranas Fetales/enzimología , Edad Gestacional , Humanos , Concentración de Iones de Hidrógeno , Embarazo , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
In two separate prospective randomized series of 38 and 16 attempts of human in vitro fertilization (IVF), respectively, the fertilizing abilities of human spermatozoa capacitated in hyperosmotic media and in normosmotic medium were compared. Oocytes from each IVF attempt were divided into two equal groups and inseminated with spermatozoa incubated for 2 h in medium with an osmolality of 285 mosm/kg or in hyperosmotic medium of 315 (first experiment) or 345 mosm/kg (second experiment). The fertilizing capacity of the spermatozoa was not affected by incubation in medium of 315 mosm/kg as compared to spermatozoa incubated in medium of 285 mosm/kg. However, the fertilizing capacity of the spermatozoa incubated in medium of 345 mosm/kg was significantly reduced. The present study indicates that there is no advantage in the use of hyperosmotic media of 315 or 345 mosm/kg for capacitation of spermatozoa in human IVF.