Cribado combinado de síndrome de Down en primer trimestre: comparación de resultados de 4 años de aplicación con los 4 años precedentes / First-trimester combined screening for Down syndrome: comparison of the 4-year results with the previous 4 years

Objetivo. Analizar los resultados de 4 años de aplicación del programa de cribado combinado del primer trimestre y su impacto sobre las tasas de detección de síndrome de Down, cobertura poblacional y procedimientos invasivos. Sujetos y métodos. Estudio retrospectivo poblacional de 8 años consecutivos (17.564 gestaciones que contienen 51 síndromes de Down), en 2 periodos: 31 de enero de 2002 a 30 de enero de 2006, sin cribado (8.182 gestaciones y 24 síndromes de Down) y 31 de enero de 2006 a 30 de enero de 2010, con cribado (8.382 gestaciones y 27 síndromes de Down). El cribado se aplicó en 2 fases: bioquímica a la 10 semana y ecografía a la 12 semana. Se comparan los resultados del cribado con los del periodo precedente basado en la edad materna y la medida de la translucencia nucal. Resultados. La cobertura poblacional fue de 93%. La tasa de detección de síndrome de Down por aplicación del cribado combinado ha sido del 89% (91% para feto único) para un 3,5% de falsos positivos y se realizaron 824 procedimientos invasivos (34,3 para 1 diagnóstico). En los 4 años previos a la aplicación del cribado, la tasa de detección era del 71% y se realizaron 1.406 procedimientos invasivos (87,8 para un diagnóstico). Conclusión. El cribado combinado ha mejorado las tasas de detección para síndrome de Down en un 18%, al tiempo que ha permitido reducir en un 41% los procedimientos invasivos (AU)

Objective. To analyze the 4-year results of first-trimester combined screening and its impact on rates of Down syndrome detection, population coverage and invasive procedures. Subjects and methods. We performed a retrospective population-based study over 8 consecutive years (17,564 gestations with 51 cases of Down syndrome) divided in two periods: from January 31, 2002 to January 30, 2006 without combined screening (8,182 gestations and 24 cases of Down syndrome) and from January 31, 2006 to January 30, 2010 with combined screening (8,382 gestations and 27 cases of Down syndrome). Combined screening was applied in two phases: biochemical analysis was performed in the 10th week of pregnancy and ultrasound examination in the 12th week. We compared the results of screening with the previous period based on maternal age and fetal nuchal translucency measurement. Results. Population coverage was 93%. The rate of Down syndrome detection due to the application of combined screening was 89% (91% for a single fetus) with a false-positive rate of 3.5%. There were 824 invasive procedures (34.1 to diagnose one episode). During the 4 years prior to the application of combined screening, the detection rate was 71% with 1,406 invasive procedures (87.8 to diagnose one episode). Conclusion. Combined screening has improved the Down syndrome detection rate by 18% and has reduced the use of invasive procedures by 41% (AU)

Impacto de la introducción en el primer trimestre del cribado combinado de trisomía 21 en la tasa de procedimientos invasivos / Impact of the introduction of first-trimester combined Down syndrome screening on the rate of invasive prenatal testing

Objetivo: Estudiar el impacto de la introducción del cribado combinado en el primer trimestre para el síndrome de Down en los procedimientos invasivos de diagnóstico prenatal, junto con el cambio de criterio edad de los 35 a los 38 años como indicación de obtención de cariotipo. Material y métodos: Se hizo un estudio retrospectivo poblacional sobre los procedimientos invasivos de diagnóstico prenatal efectuados en el Hospital de Cabueñes de Gijón, comparando un primer período, del 31 de abril de 2004 al 30 de enero de 2006 (sin programa de cribado), con un segundo período, del 31 de enero de 2006 al 30 de enero de 2008 (con programa de cribado), y diferenciando en el segundo período el impacto aislado del cribado (del 31 de enero de 2006 al 30 de enero de 2007) del asociado con el cambio de criterio de edad materna a los 38 años como indicación de procedimiento invasivo (del 31 de enero de 2007 al 30 de enero de 2008). Resultados: En el segundo período hay una reducción global del 31,2% de procedimientos invasivos, un 21,6% imputable exclusivamente al cribado combinado. Para gestantes de 35 o más años se realizaron un 30,74% menos de amniocentesis en el segundo período, tendencia que se mantiene para las de 38 años, con una disminución del 25,92%. Un 30% de las gestantes de 38 o más años del segundo período eligieron la prueba invasiva sólo en razón de su edad, frente al 61,53% del segundo período. Conclusiones: El cribado combinado tuvo un gran impacto en los procedimientos invasivos, aumentando su eficiencia y permitiendo incrementar, además, las tasas de detección(AU)

Objective: To study the impact of introducing first-trimester combined Down syndrome screening on invasive prenatal testing for prenatal diagnosis, together with the criteria change from 35 to 38 years old as the indication for obtaining the fetal karyotype. Material and methods: A retrospective population-based study was carried out of invasive tests for prenatal diagnosis performed at the Cabueñes Hospital in Gijón (Spain). A first period from 31-1-2004 to 30-1-2006 (without the screening program) was compared with a second period from 31-1-2006 to 30-1-2008 (with the screening program). During the second period the impact of screening (31-1-2006 to 30-1-2007) was differentiated from that linked to changing the maternal age criteria to 38 years old as the indication for invasive testing (31-1-2007 to 30-1-2008). Results: During the second period there was an overall reduction of 31.2% in invasive testing; 21.6% was exclusively attributable to first-trimester combined Down syndrome screening. In expectant mothers aged 35 or more at delivery, the number of amniocentesis performed in the second period was reduced by 30.74%; this tendency was maintained for pregnant women aged 38 years or more, showing a reduction of 25.92%. In the second period, 30% of the expectant mothers aged 38 years or more chose to have an invasive test due to their age compared with 61.53% in the first period. Conclusions: First-trimester combined Down syndrome screening had a major impact on invasive testing, increasing its efficiency and, moreover, allowing detection rates to be improved (AU)

[Holoprosencephaly. Role of magnetic resonance imaging in prenatal diagnosis]. / Holoprosencefalia. Papel de la resonancia magnética en el diagnóstico prenatal.

We presented a case affected of trisomía 13 and fetal malformations. Prenatal sonography and magnetic resonance imaging were performed. The fetus suffered semilobar holoprosencephaly, craniofacial malformations and tetralogy of Fallot. A review of sonographics and magnetic resonance findings is presented emphasizing the role of magnetic resonance as a complementary imaging technique when sonography has diagnostic limitations.

Holoprosencefalia. Papel de la resonancia magnética en el diagnóstico prenatal / Holoprosencephaly. Role of magnetic resonance imaging in prenatal diagnosis

Presentamos el caso de un feto malformado, con trisomía 13, estudiado prenatalmente con ecografía y resonancia magnética que padecía holoprosencefalia semilobar, malformaciones faciales y tetralogía de Fallot. Revisamos los hallazgos tanto ecográficos como de resonancia magnética y planteamos el papel de esta última como estudio complementario a la ecografía, cuando esta presenta limitaciones diagnósticas

We presented a case affected of trisomía 13 and fetal malformations. Prenatal sonography and magnetic resonance imaging were performed. The fetus suffered semilobar holoprosencephaly, craniofacial malformationsand tetralogy of Fallot. A review of sonographics and magnetic resonance findings is presented emphasizing the role of magnetic resonance as a complemmentary imaging technique when sonography has diagnostic limitations

Persistent and redundant eustachian valve simulating atrial tumor: prenatal diagnosis.

The eustachian valve, or valve of the inferior vena cava, is an embryogenic derivative of the right valve of the sinus venosus. Although it generally disappears during fetal life, its persistence may simulate symptoms of cardiac disease, particularly those associated with atrial tumors. We describe a case of prenatal diagnosis of a persistent, large and prominent eustachian valve with redundant tissue attached to the junction of the inferior vena cava and the right atrium. The neonate was asymptomatic and was healthy at 7 months of age at the time of writing. This is the first time that this finding has been diagnosed prenatally.

Peritonitis meconial / Meconium peritonitis

Objetivo: Profundizar en el conocimiento de una entidad poco frecuente. Material y métodos: Partiendo de un caso de peritonitis meconial diagnosticado prenatalmente en nuestra unidad de ecografía, se hizo una búsqueda bibliográfica que incluye la mayoría de los casos comunicados de enero de 1988 a agosto de 2005. Resultados: Los hallazgos ecográficos más frecuentes incluyen: calcificaciones peritoneales (71,8%), ascitis fetal (49%), seudoquistes meconiales (47%), dilatación intestinal (31,2%) y polihidramnios (34,4%). El pronóstico perinatal está en relación directa con la causa subyacente; la obstrucción ileal fue la más frecuente, sin embargo, no se localizó la causa de la perforación en el 50% de los casos. La fibrosis quística se presentó en menos del 10%. La mortalidad perinatal media fue del 13%. Conclusiones: La casuística comunicada es escasa y existe discordancia entre los criterios diagnósticos, la patología subyacente y el pronóstico perinatal. No es posible tratar la peritonitis meconial extrapolando los datos posnatales a los prenatales; esta entidad siguesiendo una «desconocida» en el diagnóstico prenatal

Objective: To gain greater insight into a little known entity. Material and methods: Prompted by a case of meconium peritonitis prenatally diagnosed in our ultrasound unit, we performed a literature search including most of the cases reported from January 1988 to August 2005. Results: The most frequent ultrasonographic findings include intraabdominal calcifications (71.8%), fetal ascites (49%), meconium pseudocyst (47%), dilated bowel loops (31.2%), and 485 polyhydramnios (34.4%). Perinatal prognosis is directly connected with the underlying cause, the most frequent being ileal obstruction. However, in 50% of cases, the cause of the perforation is not located. Cystic fibrosis is present in less than 10%. The mean perinatal mortality is 13%. Conclusions: The reported casuistics are scarce and there are discrepancies in the diagnostic criteria, underlying disease, and prenatal diagnosis. Meconium peritonitis cannot be managed by extrapolating postnatal data to prenatal findings. This entity continues to be «unknown» in prenatal diagnosis

Continuum asistencial en rehabilitación: agudos, subagudos y crónicos / Health care continuum in rehabilitation: acute, subacute and chronic

Este artículo pretende ser una exposición del trabajo continuado que realizamos en nuestro Servicio de Rehabilitación, integrado en un equipo multidisciplinar, encaminado a que las secuelas del proceso agudo no resten calidad de vida al paciente geriátrico.En esta exposición no describimos los tratamientos realizados, sino que profundizamos en detallar nuestra línea de actuación en todo el proceso asistencial.El continuum asistencial que aplicamos al paciente, desde que ingresa por un proceso agudo en nuestro hospital, lo exponemos según la patología que haya motivado el ingreso.Como ejemplos, hemos elegido por su alta incidencia y repercusión en la calidad de vida: a) fractura proximal de fémur como proceso agudo quirúrgico, y b) enfermedad cerebrovascular aguda (ACV) como proceso médico (AU)

Análisis de costes asistenciales en los centros comarcales de rehabilitación / Analysis of healthcare costs in regional rehabilitation centers

Análisis realizado en los servicios de rehabilitación de siete centros sanitarios de características diversas sobre la actividad asistencial y sus costes unitarios. Estudio acompañado de un proceso previo y paralelo de desarrollo de un sistema de información para cononer la actividad de la rehabilitación médica. Explicación de la metodología aplicada para comprobar la estructura de la actividad de los servicios y la determinación de los costes unitarios de la actividad realizada en 1996-1997, mediante cálculo de los costes de los diversos recursos utilizados en cada servicio para cada una de las cuatro prestaciones médicas y 25 prestaciones terapéuticas en las que se ha comprendido toda la actividad asistencial. Se detecta una elevada dispersión de los parámetros calculados entre los servicios objeto del estudio, tanto en estructura de la actividad como en costes unitarios y un alto desajuste entre el modelo de financiación para la rehabilitación ambulatoria en los hospitales y sus costes (AU)

[Persistent truncus arteriosus. Echocardiographic study of 8 cases]. / Tronco arterioso persistente. Estudio ecocardiográfico de 8 casos.

Eight patients (4 male, 4 female) with persistent truncs arteriosus diagnosed by two-dimensional echocardiography are presented. Age ranged from 1 to 19 days. Diagnosis was based on the demonstration of a single vessel giving rise to the aorta, pulmonary arteries and coronary circulation. In 6 patients we were able to define the types of the truncus: in 4 patients corresponded to type I (with partial presence of aorto-pulmonary septum) and in 2 cases corresponded to type II (without existence of septum). All cases had a dilated truncus (1.13 +/- 0.06 cm, range 1.05-1.3 cm), with moderate overriding (52% range 30%-65%) and an infundibular ventricular septal defect (0.6 +/- 0.08 cm, range 0.45-0.85 cm). In 2 cases we could also demonstrate the presence of an interruption of the aortic aorta. We conclude that two-dimensional echocardiography (specially parasternal long-short axis views and subcostal for right or leftout flow tracts axis views) gives sufficient information about this cardiac malformation, which can be completed by the use of pulsed Doppler ultrasound.

[Multiple aneurysms of the left auricula, ascending aorta and sinuses of Valsalva with interventricular communication, fibromuscular subaortic stenosis and a single coronary artery]. / Aneurisma múltiple de orejuela izquierda, aorta ascendente y senos de Valsalva con comunicación interventricular, estenosis subaórtica fibromuscular y coronaria única.

We report the case of a male newborn infant with aneurysm of atrial appendage, ascending aorta and sinus of Valsalva associated to ventricular septal defect, fibromuscular subaortic stenosis and single coronary artery. The diagnosis was carried out by means of two-dimensional echocardiography and angiocardiography. This complex cardiac malformation has not been reported before.

[Scimitar syndrome in the newborn child and infant]. / El síndrome de la cimitarra en el recién nacido y en el lactante.

We present 10 symptomatic patients with scimitar syndrome. Their age was below 1 year and four were newborn babies. In 5 patients there was secundum atrial septal defect and in one there was a patent ductus arteriosus. Sixty per cent of the patients had pulmonary sequestration. The right lung was moderately or severely hypoplasic in 8 cases and seven had frequent respiratory infections. The anomalous venous drainage produced a left-to right shunt at atrium level which in our series had a value of 2.87 +/- 0.5. Five patients had pulmonary hypertension either moderate or severe. The severity of this disease in early infancy is related to the pulmonary hypertension (40%), requiring a prompt surgical correction. Eight patients were operated upon, the drainage being connected to the left atrium. The six surviving patients are asymptomatic at 12 years of follow-up. Our series is the biggest published in our country and the second in the world literature in infancy.

[Double outlet right ventricle with situs inversus. Surgical treatment of a case with interventricular communication and pulmonary stenosis]. / Doble salida del ventrículo derecho con situs inverso. Tratamiento quirúrgico de un caso con comunicación interventricular y estenosis pulmonar.

A 4-year-old patient with situs inversus, double outlet right ventricle, septal defect, and pulmonary stenosis has been surgically corrected. During operation a tubular patch was used to communicate left ventricle with the aorta. Cross-sectional echocardiography was performed in order to test correct position of the graft.

Differential diagnosis of intrapericardial mass identified as venous ectasia.

The case of an infant with an intrapericardial mass identified as venous ectasia of the left cardinal vein is presented. Because of the few cases reported in the literature of this anomaly, we believe it is of interest to update its description as an intrapericardial venous cystic dilatation, congenital in origin, and unrelated to the pericardium or the heart. Our purpose is to describe this case as a hematic cyst arising from the ectasia dilatation of the left cardinal vein as an isolated entity originating in the fetal period.

[Mitral atresia. Anatomical study and surgical implications]. / Atresia mitral. Estudio anatómico e implicaciones quirúrgicas.

We present the pathological study of 17 cases of mitral atresia with patent aortic valve and their surgical implications. The study is based on the type of atrioventricular connection, presence or absence of ventricular septum, size of the left ventricle and relation of the aorta with the aforementioned ventricle. We have classified mitral atresia into two groups by assessing these data. Group A) Both ventricles and atrioventricular connections are present and there is ventricular septal defect. The aorta may connect with an either normal or hypoplastic left ventricle or it may emerge in double outlet from the right ventricle. Group B) Absent left ventricle and atrioventricular connection. The aorta emerges from the single ventricle or the rudimentary chamber. Thirteen cases belonged to group A and four to group B. The pathological structure of mitral atresia requires the decompression of the left atrium by atrioseptostomy during the neonatal period to enable survival. On a second stage a palliative correction should be carried out, which; depending on ventricular size and outlet of the vessels, will be a valvular prosthesis left atrium-left ventricle or the modified atriopulmonary technique connecting the new left atrium with the systemic ventricle and aorta after resecting the auricular septum and connecting the right atrium with the pulmonary artery.

[Type-B Niemann-Pick disease. Apropos of a case]. / Niemann-Pick tipo B. A propósito de un caso.

A case of Niemann-Pick's disease is described. This finding is the result of infant's interstitial pneumonitis study. Anatomopathological and enzymatic results are showed.

[Univentricular heart; angiocardiographic study]. / Corazón univentricular: estudio angiocardiológico.

Authors present angiocardiographic study of 19 patients with univentricular heart. It was realized during the neonatal period in 13 cases and between the six first six months in the rest. To determine the existence of an only ventricle contrast was injected in the right and left atrium and the ventricle through the right and left atrioventricular valve. The bulbo-ventricular foramen was orientated in all cases from back-front wards. Those of left ventricle type had a right anterior, anterior-superior or left-anterior rudimentary chamber. Depending on its' morphology they were classified in three types: left, right or indeterminate. In these series fourteen patients had left ventricle morphology. All cases had a rudimentary chamber: 10 with transposition great vessel and four with normal related great vessels. Six presented normal situs (five with levocardia , and eight ambiguous situs (six with asplenia, four with dextrocardia). In nine atrio ventricular valves were anomalous. In the indeterminate type, two had a normal situs, two with polysplenia and two asplenia. Cardiac apex was oriented to the right in two (one asplenia). The two patients with polysplenia and one with normal situs and single atrium had a common ventricular valve. Four had an anterior aorta and three pulmonary obstruction.

[Aberrant left pulmonary artery (author's transl)]. / Arteria pulmonar izquierda aberrante. Presentación de dos casos y revisión de la literatura.

Two cases of aberrant left pulmonary artery are described. One of them died on the third day of life and had esophageal atresia and Fallot tetralogy as associated anomalies. Outstanding symptoms of this anomaly were bouts of respiratory difficulty with espiratory wheezing. During these episodes radiographic findings were right or bilateral lung hyperaireation and middle lobe atelectasis. Upper respiratory infections usually preceded these bouts of respiratory difficulty. Diagnosis was established by the presence of a notch on the anterior wall of the esophagus, diminished pulmonary perfusion of the left lung as shown by pulmonary gammagraphy and characteristic findings in pulmonary arteriography. During the last 12 months the first case, now aged three years, has had a spontaneous regression of symptoms.