Feasibility and Accuracy of Early Fetal Echocardiography Performed at 13+0-13+6 Weeks in a Population with Low and High Body Mass Index: a Prospective Study.

PURPOSE: The earlier the detection and diagnosis of congenital heart diseases (CHD), the greater the clinical benefit; however, early fetal cardiac examination can be a challenge. The aim of our study is to demonstrate that the fetal cardiac examination at 13+0-13+6 weeks can be as adequately assessed as the examination performed at 16 weeks in patients with low and high body mass index (BMI). METHODS: The study was a prospective observational cohort study. One hundred pregnant women at low risk of congenital heart anomalies were divided into two groups: 49 women with low BMI (<25) and 51 women with high BMI (≥ 25). A complete fetal cardiac scan was performed on each patient at 13+0-13+6 weeks, via the transvaginal and transabdominal approaches, and at 16 weeks by the transabdominal approach. RESULTS: The examination at 13+0-13+6 weeks was adequately assessed in at least one of the two routes in 97 patients, as opposed to 87 patients at 16 weeks. A significantly higher adequate assessment rate was obtained at 13+0-13+6 weeks than at 16 weeks (p=0.017). The transvaginal approach showed the best resolution of the three examinations in 42% of women with BMI ≥35. No CHD were overlooked. CONCLUSIONS: Early fetal echocardiography is feasible and accurate at 13+0-13+6 weeks. Within patients with high BMI, early fetal echocardiography may be performed two weeks in advance, since it allows visualization of the fetal heart through the transvaginal route with a higher resolution in a large number of women, which is not feasible at 16 weeks.

Características ecocardiográficas de la mesocardia fetal: un corazón diferente / Echocardiographic features of fetal mesocardiac: a different heart

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A propósito de un caso: disgenesia gonadal pura 46XY o síndrome de Swyer / On the subject of a case: 46XY pure gonadal dysgenesis or Swyer’s syndrome

La disgenesia gonadal es la primera causa de amenorrea primaria. Se define como una falta de correlación entre el fenotipo sexual manifestado y el genotipo. Las principales etiologías por su mayor frecuencia corresponden al síndrome de Turner y síndrome de Swyer. Se presenta el caso de una paciente que consulta por una amenorrea primaria a los 17 años. En primer lugar, se realiza una anamnesis descartando cuadros similares en su familia. A la exploración física destaca un aspecto femenino normal, aunque el desarrollo de los caracteres sexuales secundarios no es completo observándose unas mamas en estadio I de Tanner y escaso vello axilar y púbico. A la exploración ginecológica se observan genitales externos femeninos normales sin signos de hipoestrogenismo. Se realiza un tacto bimanual en el que impresiona que el útero está en anteversoflexión, de pequeño tamaño y no es posible tactar los ovarios en las zonas anexiales. Se realiza una ecografía transvaginal en la que se objetiva un útero pequeño y no se distinguen estructuras compatibles con ovarios en ambas zonas anexiales. Se solicita un cariotipo que es informado como 46XY. El juicio diagnóstico es síndrome de Swyer. Se realiza una gonadectomía profiláctica vía laparoscópica. Intraoperatoriamente se objetiva un útero de aspecto hipoplásico y los ovarios se encuentran sustituidos por cintillas fibrosas de color blanco nacarado. Histológicamente están compuestas por tejido similar a la cortical ovárica sin distinguirse folículos primordiales, datos característicos de la disgenesia gonadal. Tras la intervención la paciente ha recibido tratamiento con terapia de reemplazo hormonal (AU)

Gonadal dysgenesis is the leading cause of primary amenorrhea. It is defined as a lack of correlation between the sexual phenotype and genotype said. The main etiologies for their most frequently correspond to Turner syndrome and Swyer syndrome. It is described the case of a patient who complains of primary amenorrhea at age 17. First, a thorough history is made by ruling similar pictures in your family. A physical examination revealed a normal female appearance, although the development of secondary sexual characteristics is not fully, observed a breast Tanner stage I and low axillary and pubic hair. A pelvic examination showed normal female external genitalia, no evidence of hypoestrogenism. A two-hand touch in which the uterus is impressive in anteversoflexión, is small and can not be tactar ovaries in adnexal areas is performed. Transvaginal ultrasound in which a small uterus objective and non-compatible structures with ovarian adnexal differ in both areas is performed. A karyotype which is reported as 46XY is requested. The diagnosis judgment is Swyer syndrome. Prophylactic gonadectomy performed laparoscopically. Intraoperatively was observed a hypoplastic uterus stayed in pelvis and ovaries are substituted by fibrous tracts of pearly white. From the histological point of view these slips are composed similar to the cortical tissue without distinguishing ovarian primordial follicles ovarian, data compatible with the characteristics of gonadal dysgenesis. After the intervention the patient has been treated with hormone replacement therapy (AU)

A propósito de un caso: trombosis yugular interna espontánea en gestante sometida a tratamiento de fertilidad / On the subject of a case: Spontaneous internal jugular thrombosis in pregnant women undergoing fertility treatment

La trombosis venosa yugular interna constituye una causa poco común de trombosis venosa profunda. Existen factores de riesgo como el embarazo y la inducción de la ovulación con gonadotropinas en pacientes sometidas a tratamientos de fertilidad, normalmente asociada a síndrome de hiperestimulación ovárica. Se describe el caso de una paciente de 35 años con antecedentes personales de endometriosis. Quedó gestante tras un único ciclo de fecundación in vitro con semen de donante por pareja homosexual. Desarrolló un síndrome de hiperestimulación ovárica severo que requirió culdocentesis evacuadora, evolucionando favorablemente. En la semana 9+6 comienza con dolor y edema en cara lateral derecha cervical, diagnosticándose mediante ecografía doppler de trombo a nivel de la vena yugular derecha y tercio proximal de subclavia ipsilateral. Se instauró tratamiento con heparina de bajo peso molecular con monitorización de los niveles de factor anti-Xa y realizándose un seguimiento multidisciplinar seriado. Se finalizó el embarazo en semana 37+2 mediante estimulación produciéndose un parto eutócico. Tras el parto la paciente deberá mantener el tratamiento con heparina de bajo peso molecular recomendándose un estudio de trombofilia. Si bien el embarazo, puerperio y el tratamiento hormonal están descritos como factores predisponentes para eventos trombóticos, es poco frecuente que sean la única causa. No obstante, si tras un tratamiento hormonal la paciente desarrolla un síndrome de hiperestimulación ovárica se debe mantener la tromboprofilaxis hasta la semana 12 de gestación. Ante la presencia de trombosis durante el embarazo después de una estimulación ovárica, sobre todo si la localización de la misma es atípica, sería recomendable realizar una evaluación de trombofilia (AU)

The internal jugular vein thrombosis is an uncommon cause of deep vein thrombosis. There are risk factors such as pregnancy and ovulation induction with gonadotropins in patients undergoing fertility treatments, typically associated with ovarian hyperstimulation syndrome. The case of a patient of 35 years with a history of endometriosis is described. She was pregnant after a single cycle of IVF with donor sperm by homosexual couples. He developed severe ovarian hyperstimulation syndrome requiring evacuadora culdocentesis, evolving favorably. In week 9 + 6 begins with pain and swelling in right lateral cervical, diagnosed by Doppler ultrasound thrombus at the level of the right jugular vein and proximal third of ipsilateral subclavian. Treatment was established with low molecular weight heparin with monitoring the levels of anti-factor Xa and performing a serial multidisciplinary follow. Pregnancy ended in week 37 + 2 producing a vaginal delivery. After delivery the patient should continue treatment with low molecular weight heparin and is recommended a study of thrombophilia. While pregnancy, postpartum and hormone treatment are described as predisposing factors for thrombotic events, it is rare that they are the only cause. However, if after hormone treatment, the patient develops ovarian hyperstimulation syndrome thromboprophylaxis should be maintained until the 12th week of gestation. In the presence of thrombosis during pregnancy after ovarian stimulation, especially if the location of it is atypical, it would be advisable to make an assessment of thrombophilia (AU)