[Tuberculous peritonitis in peritoneal dialysis]. / Peritonitis tuberculosa en diálisis peritoneal.

We report a patient in Automatic Peritoneal Dialysis (APD) with tuberculous peritonitis by possible peritoneal infection due to the proximity between fallopian tube and the left ovary, a peritoneal liquid culture was constantly negative. The patient presented a bad clinic evolution. Her only medical history was hypercalcemia six months before developing a peritonitis and occasionally nausea and vomits To confirm the diagnosis it was needed a peritoneal biopsy by means of a laparoscopy with a removal of the peritoneal catheter and left anexectomy. Now, the patient is asintomatic in daily home hemodialysis.

Estudio hemodinámico del deterioro fetal / Hemodinamic fetal deterioration study

Se revisa la secuencia de los cambios hemodinámicos fetales que se producen en el deterioro fetal como consecuencia de la hipoxia crónica. Se hace hincapié en el estudio Doppler fetal como paso previo a la decisión de interrumpir la gestación, haciendo énfasis en la información aportada por el estudio del índice de flujo en el istmo aórtico

The temporal sequence of the hemodinamic fetal changes is analyzed as regards to the fetal deterioration produced, on a consequence of the cronic hypoxia. The Fetal Doppler study is specially considered as a previous step before deciding to interrupt the gestation, specially bearing in mind the information provided by the flow velocity index study of the aortic isthmus

Qué hacer y qué no hacer para evitar las demandas judiciales en el diagnóstico ecográfico prenatal / No disponible

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Aloinjerto masivo del aparato extensor de la rodilla / Massive allograft of the knee extensor mechanism

Se presenta un caso de rotura antigua del tendón rotuliano de la rodilla derecha, en una paciente de 49 años de edad afecta de una artritis reumatoide seropositiva de 20 años de evolución. Quince meses después de la rotura acude a nuestra consulta por primera vez, en silla de ruedas, refiriendo que durante todos estos meses presenta una impotencia funcional absoluta para la extensión de la rodilla que le impide la marcha. Fue intervenida quirúrgicamente realizándole un aloinjerto masivo del aparato extensor de la rodilla rótula tendón rotuliano - tuberosidad tibial. Tras una evolución postoperatoria de tres años, la paciente camina prácticamente normal y presenta una movilidad de la rodilla de 120° de flexión con una extensión activa de -20° y pasiva completa. En los estudios radiográficos se comprueba la plena osteointegración del aloinjerto (AU)

Hemodinamia fetal: estudio mediante Doppler / Foetal haemodynamics: a doppler study

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Cardiac defects in chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks of gestation.

OBJECTIVE: To examine the prevalence, distribution and spectrum of cardiac defects in chromosomally normal fetuses with increased nuchal translucency thickness. PATIENTS AND METHODS: During a 4-year period, targeted fetal echocardiography was used in 353 chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks' gestation. The cardiac scan was performed at 18-22 weeks. In the last 138 cases enrolled, an additional scan at 12-16 weeks was carried out. The follow-up included the findings at necropsy or in the pediatric examination. A complete follow-up was achieved in 97%. RESULTS: Cardiac defects were present in 32 (9.1%) cases, increasing from 5.3% in those with a nuchal translucency thickness of > or = 95th centile (3.9 mm) to 24% when thickness > or = 6 mm (p < 0.001). In 31 cases (97%), the cardiac defect was diagnosed antenatally; in 24 cases (77%) this diagnosis was confirmed later. In the remaining seven cases, the autopsy examination was not available. A wide range of cardiac defects was observed, with the most common being atrioventricular septal defect and tricuspid atresia. CONCLUSIONS: Euploid fetuses with increased nuchal translucency thickness have a significantly increased risk of cardiac defects. This is a marker of different types of heart anomalies and constitutes an additional indication for targeted fetal echocardiography. Most of the cardiac defects can be detected by fetal echocardiography.

Early prenatal diagnosis of major cardiac anomalies in a high-risk population.

OBJECTIVE: To examine the accuracy of early fetal echocardiography performed in a high-risk population combining transvaginal and transabdominal routes. METHODS: A series of 330 high-risk pregnancies were screened by transvaginal and transabdominal scan at 12-17 weeks' gestation in a prospective multicentre trial in Spain between September 1999 and May 2001. A total of 334 fetal heart examinations were performed, including four twin pregnancies. Maternal age ranged from 17 to 46 years (mean 33 years with 36% of women over 34 years). The median gestational age at scan was 14.2 weeks (range 12-17 weeks). For each fetus, visualization of the four-chamber view, the origin of the great arteries, aortic and ductal arches and systemic venous return was attempted in a segmental approach. B-mode and colour/pulsed Doppler flow imaging were used in all cases. The duration of complete heart examination was less than 30 minutes. The examinations were performed by three experienced operators. Reliability was assessed by conventional transabdominal echocardiography at 20-22 weeks, by postnatal follow-up in the first three months of life, and/or by autopsy in cases of termination of pregnancy. RESULTS: The rate of successful visualization of the fetal heart was 94.6% (316/334). In 48 out of 334 (14.4%) fetuses the final diagnosis was abnormal. In 38 out of 48 (79.2%) cases with heart defects the diagnosis was suspected at early echocardiography. In the group with congenital heart defects, 27 cases had an abnormal karyotype (56.3%) and 31 cases showed extracardiac anomalies (64.6%). There were 10 false-negative cases at early scan. There were no false-positive diagnoses. CONCLUSIONS: This experience stresses the usefulness of early fetal echocardiography when performed by expert operators on fetuses specifically at risk for cardiac disease. The high rate of successful visualization of the fetal heart provides a reliable diagnosis of major cardiac defects at this early stage of pregnancy.

Orientaciones para reducir las demandas judiciales en diagnóstico prenatal / Guidelines for reducing lawsuits in prenatal diagnosis

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Marcadores ecográficos de cromosomopatías en el primertrimestre / Ultrasonographic markers of chromosomal abnormalities in the third trimester

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The role of ductus venosus blood flow assessment in screening for chromosomal abnormalities at 10-16 weeks of gestation.

OBJECTIVE: To evaluate the role of ductus venosus blood flow assessment at 10-16 weeks' gestation in screening for chromosomal abnormalities. METHODS: Ductus venosus blood flow was prospectively evaluated in 1371 consecutive pregnancies between 10 and 16 weeks of gestation. The pulsatility index for veins was calculated. All cases were screened for chromosomal defects combining maternal age and fetal nuchal translucency thickness. RESULTS: A chromosomal abnormality was found in 20 cases. The overall detection rate, specificity, positive predictive value, negative predictive value and odds ratio for chromosomal abnormalities were 65%, 95.7%, 18.3%, 99.5% and 41 (95% CI 16-108), respectively, when using the 95th centile pulsatility index as a cut-off. CONCLUSIONS: These preliminary results suggest that evaluation of the ductus venosus pulsatility index at 10-16 weeks' gestation is a useful second-line screening test for chromosomal defects. A combination of nuchal translucency measurement and ductus venosus assessment might increase specificity while maintaining an optimal detection rate for chromosomal abnormalities. Such a policy could identify 55% of all chromosomal abnormalities and about 69% of autosomal trisomies, reducing the need for invasive testing to less than 1%.

Screening precoz de cromosomopatías: nuevas estrategias / Early screening for chromosomal anomalies. New strategies

Objetivos: nuestro objetivo es evaluar la utilidad de la medición de la translucencia nucal (TN), el índice de pulsatilidad de la arteria umbilical (IPAU), la frecuencia cardíaca fetal (FCF) y el índice de pulsatilidad del ductus venoso (IPDV), entre la 10 y 16ª semana gestacional, de forma individual y combinada, como marcadores de aneuploidía. Proponemos una nueva estrategia de screening prenatal precoz de cromosomopatías adecuada a nuestra población y a los objetivos determinados. Métodos: evaluamos el riesgo bioquímico (combinando el riesgo asociado a la edad materna --EM-- y los parámetros bioquímicos ß-hCG (total) y PAPP-A entre la 10 y 12ª semana o AFP entre la 13 y 16ª semana), la TN, la FCF, el IPAU y el IPDV, de forma prospectiva, entre la 10 y 16ª semana. Consideramos patológica una medición de la TN y/o IP superior al percentil 95º, una medición de la FCF superior al percentil 97,5º o inferior al percentil 2,5º y un riesgo bioquímico para trisomía 21-T21- superior a 1/270. Resultados: se incluyen 7.683 gestantes, diagnosticándose 76 anomalías cromosómicas (1 por ciento). El 76 por ciento de las exploraciones se han efectuado en población inferior a 35 años. La medición de la TN permite detectar el 75 por ciento de anomalías cromosómicas, con una especificidad (E) del 95,6 por ciento, valor predictivo positivo (VPP) del 14,5 por ciento y valor predictivo negativo (VPN) del 99,7 por ciento. El IPDV detecta el 81,5 por ciento del total de cromosomopatías, con una E del 95,6 por ciento. Ambos marcadores mejoran su efectividad en el período gestacional temprano y en el grupo de trisomías autosómicas. La valoración combinada de la TN e IPDV detecta el 68,2 por ciento de las trisomías autosómicas, aumentando la E al 99,8 por ciento y el VPP al 51,7 por ciento. La combinación de los cuatro parámetros permite detectar el 100 por ciento de las cromosomopatías con una E del 70,3 por ciento, VPP de 6,4 por ciento y VPN del 100 por ciento. En gestantes de edad inferior a 35 años destaca el VPP de la TN (11,3 por ciento) y del IPDV (9,4 por ciento), especialmente de la combinación de ambos (38,1 por ciento), a diferencia del bajo VPP del screening bioquímico y de los restantes parámetros hemodinámicos. Entre 35 y 37 años el IPDV y la TN alcanzan el VPP más elevado (17,9 por ciento y 16,7 por ciento, respectivamente), especialmente cuando ambos están alterados (83,3 por ciento). En gestantes de edad superior a 37 años el VPP del IPDV se sitúa en el 53,3 por ciento, seguido de la TN (31,1 por ciento), alcanzando el 100 por ciento con la combinación de ambos. El screening bioquímico presenta un VPP de T21 del 1,7 por ciento, 4,3 por ciento y 6,7 por ciento, en gestantes de menos de 35, 35-37 y más de 37 años, respectivamente. Conclusiones: 1. La efectividad de los programas de screening prenatal temprano de cromosomopatías es similar o incluso superior a la obtenida en los programas aplicados más tardíamente. 2. Entre la 10ª y 16ª semana la medición de la TN es el marcador más sensible y específico de trisomía autosómica, mientras que la medición del IPDV es el marcador más sensible y específico de cromosomopatía. 3. Los parámetros fluxométricos FCF e IPAU no son marcadores útiles de cromosomopatía, de forma aislada, en este período gestacional. 4. Los beneficios del screening bioquímico deben replantearse con la introducción sistemática del estudio ecográfico en población general. 5. Los marcadores de mayor VPP de cromosomopatía son la TN en gestantes de edad inferior a 35 años y el IPDV en gestantes de edad superior. 6. Población de bajo riesgo: sería preferible calcular el riesgo teórico de cromosomopatía en función de la medición aislada de la TN, o bien la combinación de TN e IPDV, en una estrategia de screening secuencial, lo cual permite una óptima tasa de detección con un mínimo número de técnicas invasivas. 7. Población de alto riesgo: sería preferible una estrategia de screening combinado y simultáneo, con la valoración no excluyente de los marcadores bioquímicos, ecográficos y fluxométricos, obteniendo así una máxima tasa de detección y VPN, con una reducción de la E, lo cual no es clínicamente relevante en este grupo (AU)

Papel de la valoración cervicalpor ecografía transvaginal en laprevención del parto prematuroen una población noseleccionada / Role of cervical evaluation by transvaginal ultrasonography in the prevention of preterm delivery in a non-selected population

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Biometría fetal: curvas de normalidad / Fetal biometry: curves of normality

Objetivo: Establecer nomogramas en nuestra población de los parámetros biométricos fetales más utilizados: diámetro biparietal (DBP), perímetro cefálico (PC), perímetro abdominal (PA) y longitud femoral (LF). Material y métodos: Se han recogido de manera retrospectiva y transversal las ecobiometrías de 9.500 gestaciones únicas (500 para cada semana gestacional entre las 23 y 41 semanas) que acudieron a nuestra centro para control ecográfico de rutina. Resultados: El incremento semanal de las biometrías en el intervalo estudiado alcanzó su máximo a las 24 semanas para el PC, PA y LF, y a las 26 para el DBP. El 50 por ciento del incremento ocurrió a las 33 semanas para todas las biometrías. Conclusiones: Los nomogramas descritos en el presente estudio son válidos y pueden ser utilizados en poblaciones con características epidemiológicas y distribuciones de peso al nacer similares a la nuestra. (AU)

Prenatal diagnosis of isolated hypospadias.

Ten cases of prenatal diagnosis of isolated hypospadias are presented, six of them in the second trimester. The echographical basis for the suspected diagnosis of hypospadias are: anomalous distal morphology of the penis, small lateral folds (dermal remains of the prepuce), small penis with ventral incurving and anomalous urinary stream. The embryogenesis and the clinical utility of prenatal study of the genitals of the fetus, not only to determine the sex, but also to detect anomalies, are discussed.

Prenatal diagnosis of testicular torsion.

A case of the prenatal diagnosis of testicular torsion at 39 weeks' gestation is presented. The affected testicle was observed as a small rounded area of hypoechogenicity with a peripheral echogenic ring without hydrocele. The appearance was suggestive of the chronic phase of testicular torsion. The neonatal genital exploration confirmed the diagnosis.

[Complete congenital atrioventricular block. Prenatal diagnosis and perinatal management]. / Bloqueo auriculoventricular completo congénito. Diagnóstico prenatal y manejo perinatal.

OBJECTIVE: To describe our experience in prenatal diagnosis and perinatal management of congenital atrioventricular heart block, as well as pacemaker treatment in the neonate. MATERIAL AND METHODS: A total of 13 fetuses are included. The diagnosis of atrioventricular dissociation was established by Doppler heart rate sample in the right atrium to show the atrial activity while the sample in the Aorta reflected the ventricular heart rate. Gestational age at diagnosis, ventricular heart rates, autoimmune maternal pathology, maternal blood tests for autoantibodies antiRo+, congenital structural heart disease, fetal hydrops, maternal medical treatment, perinatal results and pacemaker neonatal implantation are described. RESULTS: Gestational age at diagnosis ranged between 22 and 32 (mean 27.6) weeks. Ventricular heart rates ranged between 32 to 80 (mean 54) beats/min. AntiRo+ antibodies were detected in 5 mothers, and clinical systemic lupus erythematosus was found in only one. Four had congenital heart disease (2 ventricular inversion and corrected TGA, 1 complete atrio-ventricular canal and 1 tricuspid atresia). Signs of heart failure and hydrops were detected in 9 fetuses. Treatment with beta-metasona and ritodrine was administered to 7 mothers when the ventricular heart rate dropped below 60 beats/min. Intrauterine fetal death occurred in 3 fetuses with structural congenital heart disease and hydrops. Delivery was performed by cesarean section in 8 preterm fetuses (one them a twins), 3 spontaneous deliveries at term and 3 stillbirth. Postnatal pacemaker implantation was carried out in 9 newborns (3 cases with unicameral temporal right ventricle electrode and 6 cases with permanent bicameral electrodes implanted through the subclavian vein and DDD pacemaker). Follow-up of the bicameral pacemaker group was satisfactory. CONCLUSION: Persistent fetal bradycardia is the first sign to diagnose prenatal complete atrioventricular heart block. Echocardiography asses fetal haemodynamic status and may detect signs of fetal deterioration. Hydrops and further drop in the ventricular heart rate warrant urgent cesarean section and pacemaker management of the newborn.

Early detection of reversed diastolic umbilical flow: should we offer karyotyping?

In normal pregnancy, end-diastolic flow appears in the umbilical artery around the 13th week of gestation, with a velocity which increases progressively with advancing gestation. The detection of reversed flow in the umbilical artery, the highest expression of an increase in placental vascular resistance, is extremely uncommon in the first half of gestation and, in three of the four cases reported in the literature, there were chromosomal abnormalities. We report a new case of reversed end-diastolic flow in the umbilical artery in a 13-week fetus with increased nuchal translucency thickness, megacystis and tachycardia. Cytogenetic analysis of chorionic villi and amniocytes revealed trisomy 13. The findings provide further evidence for a possible association between reversed end-diastolic flow in the umbilical artery and chromosomal abnormalities. However, the effectiveness of this potential marker in an unselected population requires further evaluation.