Objetivo: Exponer los datos obtenidos tras la implementación de la prueba prenatal no invasiva basada en la detección de ADN fetal en sangre materna, como cribado contingente de aneuploidías y realizar un análisis de costo-efectividad. Métodos: Estudio observacional retrospectivo, exponiendo los datos obtenidos tras la implementación del cribado contingente en 2019,en el Hospital Virgen Macarena (Sevilla), realizando prueba prenatal no invasiva si existe riesgo intermedio de aneuploidía en el cribado combinado de primer trimestre. Se compara con la estrategia realizada hasta 2018, mediante cribado combinado y pruebas invasivas en casos indicados. Resultados: Se realizó prueba prenatal no invasiva a 88 gestantes, la mayoría (73,9 %) por riesgo intermedio en el cribado combinado de primer trimestre, frente a 2018 que solo se realizó en 20 ocasiones. Se logró una reducción significativa del número de pruebas invasivas, de 101 en 2018 frente a 30 en 2019, realizadas solo en casos de cribado combinado de primer trimestre de alto riesgo. La tasa de falsos positivos de la prueba prenatal no invasiva fue del 1,1 %. Con el cribado contingente se reducen riesgos de complicaciones de pruebas invasivas y se consigue un ahorro económico final estimado de 30 084 €. Conclusiones: Aunque aún no se considera la técnica de elección de cribado universal de aneuploidías, la prueba prenatal no invasiva es más costo - efectivo a largo plazo que las pruebas invasivas. Tiene una mayor sensibilidad que el cribado combinado de primer trimestre y no tiene riesgo para el embrión o feto. Palabras clave: Pruebas prenatales no invasivas, Diagnóstico prenatal, Cribado de cromosomopatías, Biopsia corial, Amniocentesis.
Cervical carcinosarcomas are extremely rare, accounting for less than 0.5% of cervical tumors. Due to its low incidence there is no specific protocol of action, which is associated with a poor prognosis. It is frequently diagnosed in postmenopausal women and in advanced stage, with large tumors with vaginal and parametrial metastases. Surgery is considered the treatment of choice, requiring in some cases adjuvant radio-chemotherapy. The prognosis will depend fundamentally on the stage at the time of diagnosis. Since there is little published evidence on this type of tumors we see the need for the publication of cases and reviews of the literature in this regard, to develop unified protocols for the management of this rare pathology. We present the case of a 51-yearold woman who consulted for postmenopausal metrorrhagia, observing a cervical mass with vaginal involvement, corresponding to a carcinosarcoma of the cervix; receiving treatment with radio-chemotherapy, with few side effects and good response. Keywords: Carcinosarcoma, uterine cervix, chemotherapy, radiotherapy, surgery.
Adnexal torsion during pregnancy is a rare event mainly associated with the use of assisted reproductive techniques. However, it can occasionally also occur in spontaneous pregnancies without any predisposing factors. Its nonspecific clinical presentation in addition to the sometimes limited sensitivity of the gold standard test, Doppler ultrasound, leads to difficulty in preoperative diagnosis. For this reason, in most cases it is necessary to perform a laparoscopy in order to directly visualize the twisted ovary to obtain diagnostic confirmation. This is why, nowadays, adnexal torsion continues to be considered a diagnostic dilemma that should not delay the therapeutic approach, since a delay over 48 hours associates several irreversible lesions of the adnexa. At present, laparoscopy is the main surgical approach in pregnant women with suspicion of adnexal torsion due to the safety and advantages it provides. Keywords: Adnexal torsion, pregnancy, ovarian cyst, gynecological laparoscopy
Sacrococcygeal teratomas are frequently diagnosed prenatally. Although histologically they are usually benign, it is important to carry out adequate follow-up to detect if there is any type of complication that may require prenatal treatment or to end the pregnancy. In some cases in these fetuses we can observe urinary and fecal complications, severe heart failure, hydrops and even intrauterine death. The clinical case of a primigravida patient diagnosed at week 14 of gestation with a fetal malformation compatible with sacrococcygeal teratoma is presented. During prenatal follow-up, the mass grows rapidly, showing ultrasound signs of kidney and heart failure three weeks after diagnosis. Given the unfavorable prognosis, the patient decided legal induced abortion. In this work we will review the management of this type of patient, the diagnostic and therapeutic procedures indicated to avoid prenatal complications and the current recommendations to achieve the best maternal-fetal results.
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