Descripción de un caso: Hallazgos prenatales del síndrome de Silver-Russell / Case description: Prenatal sonographic features of Silver-Russell Syndrome

Introducción: El síndrome de Silver-Russell es un trastorno congénito que cursa con déficit de crecimiento intrauterino y posnatal, macrocefalia relativa, frente prominente, cara triangular, clinodactilia, asimetría esquelética, problemas de alimentación y bajo índice de masa corporal. Entre las causas genéticas más comunes se encuentran la hipometilación del alelo paterno en la región de control de impronta 1 (ICR1) localizado en 11p15.5 (50% de los casos) y la disomía uniparental materna en el cromosoma 7 (7-10%). Hallazgos clínicos: Presentamos el caso de una gestante de 29 años con un cribado de cromosomopatías de primer trimestre de bajo riesgo. En la ecografía selectiva, realizada con 20+4 semanas, se evidencia un crecimiento intrauterino restringido (CIR) precoz. Se realiza amniocentesis con QF-PCR, cariotipo y array-CGH normales. A las 31+3 semanas persiste CIR tipo I con un peso fetal estimado, circunferencia abdominal y longitud de fémur inferiores al percentil 1, siendo el diámetro biparietal y la circunferencial cefálica normales. Se evidencia prominencia frontal, facies pequeña y clinodactilia del quinto dedo de la mano derecha. A las 37 semanas nace mediante cesárea un varón de 1.410g. Diagnóstico, intervención terapéutica y resultados: A la exploración física destaca fenotipo peculiar sugestivo de síndrome de Silver-Russell. El estudio genético confirma hipometilación del ICR1 en la región 11p15.5. Se incluye iconografía del estudio ecográfico prenatal. Conclusión: Es importante llegar al diagnóstico de esta entidad y conocer la correlación genotipo-fenotipo para poder ofrecer las mejores opciones terapéuticas, un adecuado seguimiento y realizar asesoramiento genético familiar.(AU)

Introduction: Silver-Russell syndrome is a congenital disorder that causes prenatal and postnatal growth restriction, relative macrocephaly, prominent forehead, triangular facies, clinodactyly, body asymmetry, severe feeding difficulties, and low body mass index. The most common underlying mechanisms are hypomethylation of the paternal allele at the imprinting control region 1 (ICR 1) located at 11p15.5 (seen in 50% of patients) and maternal uniparental disomy for chromosome 7 (seen in 7%–10% of patients). Clinical findings: We present the case of a 29-year-old pregnant woman with low risk for chromosomal abnormalities at the first trimester screening. The 20-week ultrasound shows early intrauterine growth restriction (IUGR). We performed an amniocentesis with normal QF-PCR, foetal karyotype and array-CGH. Intrauterine growth restriction Type I persists at 31+4 weeks with estimated foetal weight, abdominal circumference, and femur length below the 1st centile. The biparietal diameter and head circumference centiles were normal. Prominent forehead, small face, and fifth finger clinodactyly of right hand were detected. At 37 weeks, a boy weighing 1,410g was born by caesarean section. Diagnosis, therapeutic intervention, and results: Physical examination revealed a peculiar phenotype suggestive of Silver-Russell syndrome. The genetic study confirmed hypomethylation of ICR1 in the 11p15.5 region. Prenatal ultrasound images are shown. Conclusions: It is important to diagnose this entity and determine genotype-phenotype correlations in order to provide the best therapeutic options, ensure adequate follow-up, and offer timely family genetic counselling.(AU)

Diagnóstico prenatal de atresia de yeyuno con ecografía 3D con reconstrucción en superficie (HDlive): reporte de caso y revisión de la literatura / Antenatal diagnosis of jejunal atresia by 3D HDlive ultrasound: Case report and literature review

Resumen Objetivos: Reportar el caso de una paciente con diagnóstico prenatal de atresia de yeyuno y hacer una revisión de la literatura en torno al resultado y al diagnóstico de esta entidad, implementando el uso de métodos no convencionales: ecografía tridimensional (3D) o resonancia magnética fetal (RM). Materiales y métodos: Se reporta el caso de una gestante de 18 años, remitida a la Unidad de Medicina Materno-Fetal, Genética y Reproducción del Hospital Virgen del Rocío de Sevilla (España), por feto con imagen quística abdominal, peristáltica, compatible con atresia de yeyuno, la cual se confirmó con ecografía 3D modo HDlive. Se realizó una búsqueda bibliográfica en Medline/PubMed, LILACS y Google Scholar, restringiendo por tipo de idioma (inglés y español) y fecha de publicación (enero de 1995 a junio de 2020). Se incluyeron estudios primarios de reportes y series de caso, que abordaran el resultado y el diagnóstico prenatal de esta patología. Resultados: La búsqueda identificó 1.033 títulos, de los cuales cuatro estudios cumplieron con los criterios de inclusión, estos fueron reporte o series de casos. En total se reportaron doce fetos con diagnóstico prenatal de atresia de yeyuno detectada con métodos no convencionales. Una gestación finalizó con óbito a la semana 26 de gestación y en todos los demás casos, el diagnóstico se ratificó durante el periodo neonatal, requiriendo la resección del segmento comprometido. Dos neonatos desarrollaron síndrome de intestino corto como consecuencia de una resección intestinal amplia. El resto experimentó una evolución posoperatoria favorable. Conclusión: La literatura disponible en torno al diagnóstico prenatal de atresia de yeyuno utilizando métodos no convencionales es escasa y se limita a reporte o series de casos. La literatura revisada sugiere que, en presencia de dilatación intestinal, la ecografía 3D y la resonancia magnética fetal podrían tener cierta utilidad a la hora de caracterizar la porción atrésica y establecer el diagnóstico diferencial. Se requieren más estudios que evalúen la utilidad diagnóstica de estas dos alternativas.

Abstract Objectives: To report the case of a patient with a prenatal diagnosis of jejunal atresia and to review the literature regarding the results and prenatal diagnosis of this entity, implementing the use of non-conventional methods (3D ultrasound or magnetic resonance imaging). Material and methods: Report of a case of an 18-year-old pregnant woman referred to the Maternal-Fetal Medicine, Genetics and Reproduction Unit of the Virgen del Rocío Hospital in Seville due to fetus with abdominal peristaltic cystic image, consistent with jejunal atresia, confirmed with 3D HDLive mode ultrasound. A bibliographic search was carried out in Medline/PubMed, Google Scholar and LILACS, restricting by type of language (English and Spanish) and date of publication (January 1995 to June 2020). Primary studies of reports and case series relating to the outcome and prenatal diagnosis of this pathology were included. Results: The search identified 1,033 titles, of which four studies met the inclusion criteria, these being reports or case series. A total of twelve fetuses with a prenatal diagnosis of jejunal atresia detected with unconventional methods were reported. In all cases, the prenatal diagnosis was confirmed during the neonatal period, which required resection of the compromised segment; one of them died and two neonates developed short bowel syndrome because of a wide bowel resection. The postoperative course in the remaining cases was favorable. Conclusion: The available literature on the prenatal diagnosis of jejunal atresia using non-conventional methods is scarce and is limited to case reports or case series. The literature reviewed suggests that, in the presence of intestinal dilation, 3D ultrasound and magnetic resonance imaging could be of some use in characterizing the atretic portion and establishing the differential diagnosis. More studies are required to evaluate the diagnostic utility of these two alternatives.

Junctional zone in infertile women: a three-dimensional ultrasound study / Zona juncional em mulheres inférteis: estudo por ecografia tridimensional

Abstract Objective To analyze the interobserver and intraobserver reproducibility of the visualization and continuity of the juncional zone (JZ) by three-dimensional (3D) ultrasound in infertile women, and to evaluate the sociodemographic, hormonal, and structural factors that influence these assessments. Methods A prospective study conducted at the Assisted Reproductive Technology Unit of Hospital Senhora da Oliveira, in the city of Guimarães, Portugal. Transvaginal 3D ultrasonography was performed, and 2 volumes were generated per case. Two observers who were blinded to each other's work analyzed these volumes, choosing the best coronal section. Four months later, one of the observers performed the same methodology. The JZ visualization was classified as optimal, satisfactory, and unsatisfactory, and the JZ continuity, as continuous and discontinuous. The interobserver and intraobserver agreements were analyzed. The influence of hormonal, structural, and sociodemographic factors on the JZ was evaluated. Results In total, 65 women were included in the present study. The interobserver reproducibility was substantial for JZ visualization and continuity (k = 0.635 and 0.753 respectively), and the intraobserver reproducibility was very good for JZ visualization and continuity (k = 0.884 and 0.816 respectively). Trilaminar endometrial pattern was associated with optimal JZ visualization (p = 0.012). The increase of 1 unit in the level of serum estradiol represents a 9.9% decrease in the odds of unsatisfactory visualization of the JZ (odds ratio [OR] = 0.9; 95% confidence interval [95%CI] = 0.814-0.996; p = 0.042). Endometriosis increases the odds of unsatisfactory visualization by 24 times (OR = 23.7; 95%CI = 1.262-437.057; p = 0.034). The prevalence of discontinuous JZs was of 60%. Myomas and endometriosis were associated with discontinuous JZs (p = 0.034 and 0.016 respectively). Conclusion The assessment of JZ visualization and continuity by 3D ultrasound is reproducible enough to be used in the clinical practice.

Resumo Objetivo Analisar a reprodutibilidade inter e intraobservador da visualização e continuidade da zona juncional (ZJ) por ecografia tridimensional (3D) em mulheres inférteis, e avaliar os fatores sociodemográficos, hormonais e estruturais que afetam essas avaliações. Métodos Um estudo prospectivo conduzido no Centro de Procriação Medicamente Assistida do Hospital Senhora da Oliveira, em Guimarães, Portugal. Foi realizada ecografia transvaginal 3D e gerados 2 volumes por caso. Dois observadores, cegos às avaliações um do outro, analisaram os volumes obtidos e escolheram o melhor corte coronal. Após quatro meses, a mesma análise foi realizada por um dos observadores. A visualização da ZJ foi classificada como ótima, satisfatória e não satisfatória, e a continuidade, como contínua ou descontínua. Foram avaliadas as reprodutibilidades inter e intraobservador. A influência de fatores sociodemográficos, hormonais e estruturais na ZJ foi analisada. Resultados No total, 65 mulheres foram incluídas no presente estudo. A reprodutibilidade interobservador foi substancial para a visualização e continuidade da ZJ (k = 0,635 e 0,753, respetivamente). A reprodutibilidade intraobservador foi muito boa para a visualização e continuidade da ZJ (k = 0,884 e 0,816, respetivamente). Endométrio trilaminar associou-se à visualização ótima da ZJ (p = 0.012). O aumento de 1 unidade no nível de estradiol diminuiu a chance de visualização não satisfatória da ZJ em 9,9% (razão de probabilidades [RP] = 0,9; intervalo de confiança de 95% [CI95%] = 0,814-0,996; p = 0,042). Endometriose aumentou a chance de visualização não satisfatória da ZJ em 24 vezes (RP = 23,7; CI95% = 1,262-437,057; p = 0,034). A prevalência de ZJs descontínuas foi de 60%. Miomas e endometriose associaram-se a ZJs descontínuas (p = 0,034 e 0,016, respetivamente). Conclusão A avaliação da visualização e continuidade da ZJ por ecografia 3D é reprodutível, podendo ser utilizada na prática clínica.

[Evaluation of three-dimensional sonography for antral follicle count in cycling dairy cows]. / Beurteilung der Follikelzahl mittels transrektaler dreidimensionaler Sonographie bei zyklischen Milchkühen.

INTRODUCTION: The objective of the present study was to investigate reliability of transrectal three-dimensional ultrasound (3D-S) for antral follicle count (AFC) in dairy cows. Furthermore individual differences of AFC between cows and the fluctuation of AFC within and between different cycles were evaluated. To test the reliability of 3D-S, AFC was determined on the ovaries of 10 cows in vivo and compared with counts obtained after slaughter using computer tomography. To evaluate cyclic follicle dynamics, six cows were repeatedly examined with 3D-S over a period of two cycles. Using 3D-S, follicles with a mean diameter greater than 2 mm could be recorded. AFC determined with 3D-S and computer tomography showed a significant correlation (r ≥ 0.86, p < 0.05) and values were similar (p ≥ 0.05). AFC differed between individuals (p < 0.0001) and a moderate fluctuation within and between two cycles within the same cow was apparent (p < 0.05). In conclusion, 3D-S is a suitable method for determination of AFC in cattle. AFC differs between cows and cyclic fluctuations are apparent in a lesser extent.

INTRODUCTION: L'objectif de la présente étude était d'étudier la fiabilité de l'échographie tridimensionnelle transrectale (3D-S) pour le comptage des follicules (FC) chez les vaches laitières. Sur la base du nombre de follicules, on a contrôlé s'il y avait des variations individuelles au sein et entre les différents cycles. Pour tester la fiabilité de la 3D-S, le FC a été déterminée in vivo sur les ovaires de 10 vaches et comparé aux résultats obtenus après l'abattage par tomodensitométrie. Pour évaluer les variations cycliques, six vaches ont été examinées à plusieurs reprises par 3D-S sur une période de deux cycles. En utilisant 3D-S, les follicules avec un diamètre moyen supérieur à 2 mm peuvent être visualisés. Le FC déterminé avec 3D-S et la tomodensitométrie ont montré une significatif corrélation (r ≥ 0,86, p.

Diagnóstico prenatal y evolución en fetos con agenesia de ductus venoso / Prenatal diagnosis and evolution in fetuses with ductus venosus agenesis

Antecedentes: El ductus venoso es una derivación vascular (shunt) presente en el feto que permite el paso de sangre oxigenada de la vena umbilical (VU) hacia la circulación coronaria y cerebral. Su agenesia se asocia con defectos cromosómicos, síndromes genéticos, defectos estructurales y complicaciones prenatales como crecimiento intrauterino retardado y muerte fetal. Resultados: Se analizaron 15 agenesias de ductus venoso (ADV) en gestaciones únicas entre enero de 2010 y diciembre de 2013. El 80 por ciento de ellas fueron diagnosticadas en la exploración rutinaria de la semana 12. Se realizó estudio de cariotipo en el 53 por ciento de los casos (8/15), bien por riesgo alto de cromosomopatía en el cribado combinado y/o translucencia nucal aumentada (75 por ciento) o malformaciones asociadas (25 por ciento). Sólo hubo un diagnóstico de trisomía 21 y postnatalmente de una microdelección del cromosoma 7. Realizaron interrupción legal del embarazo un total de 4 pacientes (por trisomía 21 o por alteraciones estructurales). Entre las 11 gestaciones restantes un 27 por ciento se diagnosticó RCIU, hubo una muerte neonatal a las 12 horas de vida por síndrome de aspiración meconial e hipertensión pulmonar. En un 60 por ciento se objetivó la presencia de un drenaje umbilicohepático y entre los 6 restantes con shunt portosistémico, 4 tenían conexión entre la VU y la VCI. Conclusión: La ADV es una anomalía infrecuente del sistema venoso fetal, de difícil diagnóstico y con mal pronóstico en aquellos casos en que se asocia con otros marcadores y/o anomalías estructurales que pueden aparecer tardíamente, por lo que debe realizarse un seguimiento adecuado.

Background: The ductus venosus (DV) is a unique shunt that allows direct passage of oxygenated blood from the umbilical vein (UV) to the coronary and cerebral circulation by a preferential passage through the foramen ovale. DV agenesis (DVA) is associated with chromosomal abnormalities, genetic syndromes, structural defects and prenatal complications such as intrauterine growth retardation (IUGR) or even stillbirth. Results: We report 15 cases of DVA in singleton pregnancies between January 2010 and December 2013. 80 percent of them were diagnosed on routine examination during the 11-14 weeks scan. Karyotyping was performed in 53 percent of cases (8/15) by high risk of chromosomal abnormalities in the first trimester combined screening and/or an increased nuchal translucency thickness in 6/8 (75 percent), or associated malformations 2/8 (25 percent). There was only one fetus diagnosed of trisomy 21 by amniocentesis and another fetus was postnatally diagnosed of a microdeletion of chromosome 7. 4 patients performed legal abortions (the trisomy 21 and in 3 cases for severe structural malformations). Among the remaining 11 pregnancies, 3 (27 percent) were diagnosed with IUGR and there was a neonatal death at 12 hours of life for meconium aspiration syndrome and pulmonary hypertension. 60 percent of the fetus presented an intrahepatic drainage and among the remaining 6 with portosystemic shunt, in 4 a connection between the UV and the inferior vena cava was observed. Conclusion: DVA is a rare anomaly of the fetal venous system, difficult diagnosis and poor prognosis in cases associated with other markers and/or structural abnormalities that may even appear late. A detailed survey of fetal anatomy and follow up of these fetuses is necessary.

Diagnóstico prenatal de agenesia del cuerpo calloso mediante neurosonografía volumétrica-3D: una nueva alternativa para la evaluación de anomalías de la línea media

La agenesia de cuerpo calloso (ACC) es una anomalía del sistema nervioso central fetal de pronóstico variable, cuyo diagnóstico prenatal es difícil debido a las limitaciones de la ultrasonografía convencional, tales como la dificultad para su visualización directa y la obtención de planos adecuados. La sospecha diagnóstica se apoya en hallazgos indirectos y debe ser confirmada con la neurosonografía. La evaluación 3D ofrece ventajas en el examen del cerebro fetal; la obtención de volumen permite generar planos a demanda que optimizan el estudio neurosonográfico. Se presenta un caso de diagnóstico prenatal de un feto con ACC mediante neurosonografía volumétrica 3D y su rol como nueva alternativa para la evaluación de anomalías de la línea media.

Agenesis of corpus callosum (ACC) is a central nervous system fetal anomaly of variable outcome; prenatal diagnosis is difficult due to the limitations of conventional ultrasound such as difficult visualization of the corpus callosum and obtaining adequate planes. Diagnosis is suspected on indirect signs and must be confirmed by neurosonography. 3D evaluation offers some advantages in fetal brain examination; the volume obtained allows generation of multiple planes that optimize the neurosonography study. We present a case of prenatal diagnosis of a fetus with ACC performed by 3D volumetric neurosonography and its role as new alternative for midline brain anomalies evaluation.

Estudio de la torsión ovárica fetal intrauterina mediante ecografía 3D / Study of the intrauterine fetal ovarian torsion by 3D echography

Los quistes ováricos fetales son la causa más frecuente de masa quística intraabdominal diagnosticada prenatalmente, con una incidencia en torno al 30 por ciento. Normalmente son un hallazgo casual en una ecografía de rutina y no se encuentran anomalías asociadas. Pueden resolverse espontáneamente o presentar complicaciones como rotura del quiste, hemorragia intraquística y torsión ovárica. Las diferentes opciones de tratamiento incluyen el manejo conservador, la punción con aspiración del quiste antenatal o neonatal o la quistectomía laparoscópica o por laparotomía. Tras su diagnóstico se recomiendan estudios ecográficos seriados, donde nos será de utilidad la ecografía 3D, ya que esta modalidad de ecografía nos permitirá reconstruir en tres planos el aparato reproductor femenino y estudiar con detalle numerosas patologías tanto uterinas como anexiales. Su uso en combinación con la ecografía Doppler mejora sustancialmente el diagnóstico precoz de las tumoraciones ginecológicas.

Fetal ovarian cysts are the most common cause of prenatally diagnosed intra-abdominal cystic mass, with an incidence around 30 percent. They are usually an incidental finding on a routine ultrasound and anomalies are not associated. They may be resolved spontaneously or lead to complications such as cyst rupture, intracystic hemorrhage and ovarian torsión. Treatment options include conservative management, antenatal or neonatal cyst aspiration, laparoscopic cystectomy and laparotomy. Afterthe diagnosis, serial ultrasound studies are recommended, 3D ultrasound will be useful for us, since this form of ultrasound allows us to reconstruct in three planes the female reproductive system and study in detail a number of both uterine and adnexal pathology. Its use in combination with Doppler ultrasonography improves significantly the early diagnosis of gynecologic tumors.