Hemorragia intracraniana en un feto con trisomia 21 y rabdomiomas cardiacos: diagnostico diferencial de esclerosis tuberosa: estudio antenatal a propósito de un caso / Intracranian hemorrhage in a fetus with trisomy 21 and cardiac rhabdomyomas: differential diagnosis of tuberous sclerosis: antenatal study regarding a case

INTRODUCCIÓN: El Síndrome de Down (SD) es una de las aneuploidías más frecuentes. En Chile, la incidencia es de 2.2 por 1000 nv. La esclerosis tuberosa (ET) es una enfermedad genética autosómica dominante con una prevalencia de 1:600 a 1:10.000 nacidos vivos (nv) que se sospecha prenatalmente por la presencia de rabdomiomas cardiacos. Los tumores cardiacos fetales tienen una prevalencia de 1:10000 nv, los más prevalentes son los Rabdomiomas. El hallazgo de tumores intracraneanos son infrecuentes, dentro del diagnóstico diferencial es necesario descartar la Hemorragia Intraventricular (HIV). CASO CLÍNICO: Paciente de 29 años, M2, Derivada a nuestro centro a las 27+4 semanas para evaluación ecográfica. Entre los hallazgos se encuentran tumores intracardiacos en ventrículo derecho y marcadores blandos para alto riesgo de aneuploidía, por lo que se realiza cariotipo (amniocentesis genética: 47, XX+21). A las 32+0 semanas en una nueva evaluación presenta imagen hiperecogénica sugerente de tumor intracerebral. Se solicita resonancia magnética fetal que informa hemorragia intraventricular (HIV). El parto ocurre con un recién nacido de término, fenotipo concordante con Trisomía 21, ecocardiograma confirma dos tumores intracardiacos (Rabdomiomas) y ecografía cerebral confirma el diagnóstico de HIV Grado III derecho. Ante el diagnóstico diferencial de ET, se realiza ANGIO-TAC que resulta negativo para ET. DISCUSIÓN: En la evaluación ecográfica antenatal, la presencia de tumores intracardiacos asociados a tumor cerebral hace plantear el diagnóstico de una ET. El diagnóstico antenatal de tumores cerebrales vs HIV por ultrasonido es difícil. La resonancia es un examen complementario de gran ayuda, permitiendo un diagnóstico de certeza. La HIV fetal es un diagnóstico poco frecuente de diagnostico prenatal asociado a feto con trisomia 21.

INTRODUCTION: Down Syndrome (DS) is one of the most frequent aneuploidies. In our country its incidence is 2.2 every 1000 newborns. Tuberous sclerosis (TS) is a dominant autosomal genetic disease with a prevalence of 1:6000 to 1:10.000 newborns, this disease is suspected by the finding of cardiac rhabdomyomas. Rhabdomyomas are the most prevalent fetal heart tumors. Intracranial tumors are a rare prenatal finding in ultrasound the main differential diagnosis is Intraventricular Hemorrhage (IVH). The Objective of this paper is present a case report of a fetus with trisomy 21 plus rhabdomyomas and cranial tumors. CASE REPORT: 29 years old patient, referred for ultrasound at 27+4 week. Cardiac tumors and aneuploidy soft markers are found. Genetic amniocentesis is performed (Result: 47, XX+21). At 32+0 weeks ultrasound finding of intracranial tumor. Fetal MRI was performed which reports suspected IVH. Confirmed postnatally. Baby was delivered at term. Neonatal findings: Trisomy 21 phenotype, Echocardiogram with two cardiac tumors (Rhabdomyomas), neonatal brain ultrasound confirms Grade III - IVH. To rule out TS, an Angio-CT is performed which is negative for the disease. DISCUSSION: Cardiac Tumors associated to brain tumors in antenatal period make TS a possible diagnosis. Differentiate brain tumors and IVH by ultrasound is very difficult. MRI is a very helpful tool for an accurate diagnostic. IVH is a rare antenatal diagnosis. Not reported before in a baby with trisomy 21.

Resultado de estudio prenatal invasivo para el diagnóstico de aneuploidía en el Hospital Sótero del Río / Results of an invasive prenatal study for the diagnosis of aneuploidy at Hospital Sótero del Río

ANTECEDENTES: Las aneuploidías y malformaciones congénitas son causa importante de morbi-mortalidad perinatal e infantil en Chile. OBJETIVO: Evaluar la realidad local del diagnóstico genético antenatal para mejorar el resultado perinatal. MÉTODOS: Estudio retrospectivo y descriptivo. Se realizó amniocentesis a embarazadas con indicación de estudio genético prenatal por sospecha ecográfica de alteraciones cromo-sómicas, entre octubre de 2010 y marzo de 2015, en el Hospital Sótero del Río. RESULTADOS: Los hallazgos ecográficos más frecuentes fueron: cardiopatías congénitas, malformaciones del sistema nervioso central y restricción de crecimiento fetal precoz. 164 pacientes aceptaron el estudio invasivo antenatal, obteniéndose resultados de 154. El promedio de edad materna y edad gestacional del examen fueron 30 años y 27+3 semanas, respectivamente. En embarazos con trisomía 21 y 13, el 71% de las pacientes tenía sobre 35 años. Un 31% de las muestras presentaron cariotipo anormal, siendo la más frecuente la trisomía 21 (14%), trisomía 18 (9%), monosomía X (4,5%) y trisomía 13 (2,6%). CONCLUSIÓN: El diagnóstico genético prenatal permite un adecuado manejo perinatal, coordinación apropiada entre las unidades de Obstetricia y Neonatología, y la preparación de las pacientes y sus familias para un pronóstico perinatal adverso.

BACKGROUND: Malformations and aneuploidy are a major cause of perinatal morbidity and mortality in Chile. Invasive techniques are offered to determine the fetal karyotype, when there is an abnormal finding in the ultrasound. AIMS: To assess the local situation of prenatal genetic diagnosis to improve the management of this population. METHODS: This is a retrospective and descriptive study of patients from october 2010 to march 2015, who had an amniocentesis for genetic testing due suspected fetal malformations or aneu-ploidy. RESULTS: The sonographic findings most frequently found were: congenital heart disease, malformations of the central nervous system and early growth restrictions. 164 patients agree to perform invasive prenatal genetic, obtaining 154 results. The average maternal age was 30 years and the mean gestational age at amniocentesis was 27+3 weeks. In trisomy 21 pregnancies, 71% of patients were higher than 35 years. 31% of the samples had abnormal karyotype: trisomy 21 (14%), trisomy 18 (9%), Turner's syndrome (4.5%) and trisomy 13 (3%). CONCLUSIONS: Prenatal genetic diagnosis allows appropriate perinatal management and contributes to prepare the patient and their families for an adverse perinatal outcome.

Subdiagnóstico de restricción de crecimiento fetal mediante la aplicación de las curvas de crecimiento intrauterino del Ministerio de Salud / Under diagnosis of fetal growth restriction by the new growth curves of the Chilean Ministry of Health

Background: Fetal growth restriction (FGR) is associated with increased risk of perinatal morbidity or death. Nationwide implementation of new fetal growth charts, requires a lower fetal weight for the diagnosis of FGR, compared to previous ones. This may lead to an under diagnosis of FGR in a large proportion of neonates. Aim: To compare the morbidity, mortality and anthropometry of neonates with FGR, diagnosed by MINSAL and Juez curves, with normal weight newborns in the same period (2000-2004). Material and methods: Revision of medical records of all births occurring in a maternity hospital between 2000 and 2004. The number of neonatal deaths, and the presence of hyperbilirubinemia, polyglobulia, hypoglycemia and hypothermia, were compared among children classified to be below percentile 10 of fetal growth according to both growth charts. Results: FGR was diagnosed in 4,4 percent (502/11.289) and 9 percent (1.029/11.289) of newborns by MINSAL and Juez curves respectively. Compared to normal weight controls, the 527 newborns without FGR according to MINSAL curves, but below percentile 10 of Juez curves, had an odds ratio (OR) for polyglobulina of 8.14 (95 percent confidence intervals (CI): 1.01-65.34), an OR for neonatal hypoglycemia of 5.10 (95 percent CI: 1.11-23.39) and an OR for a ponderal index below 10th percentile of 10.98 (95 percent CI: 6.84-17.64). Conclusions: Newborns without a diagnosis of FGR by MINSAL curves but below 10th percentile by Juez curves, have neonatal outcomes suggesting a true FGR. Juez curves should be maintained as a standard for the evaluation of fetal growth in our population.

Expectativas de estudiantes de medicina de pregrado en relación al perfil de médico esperado / Undergraduate medical students' expectative of their desired profile as medical doctors

Background: During the last few years, multiple new medical schools have emerged in Chile, associated to the constant preoccupation to provide a good quality medical care. This created the need to evaluate medical training programs and to open a discussion about the attributes that a good physician should have. Aim: To evaluate the medical student's perception of the ideal medical doctor profile. Material and methods: An analytical, descriptive and cross sectional study was designed. Eleven second year, 11 third year, nine fourth year, 13 fifth year, 6 sixth year and 8 seventh year students were studied. Data collection was gathered by focus groups. Codes and triangulation were used for data analysis. Results: As attitudes and moral-ethical values, students valued the absence of discrimination a listening attitude and empathy. Among job related issues, they valued responsibility and punctuality. Emotional and legal self-care were valued as self related attitudes. Among skills, competences and capacities, a value was given to communicational skills, team work and professional easiness. Knowledge about medical and non medical topics was appraised. The valued attributes among duties and activities were patient diagnosis, treatment and education, team leadership and continuous medical training. Conclusions: These findings should help to design new curricula for medical schools.