Resultados materno y perinatal de pacientes con diagnóstico prenatal de gastrosquisis en un centro de Medellín / Maternal and perinatal outcomes of patients with prenatal diagnosis of gastroschisis in a center in Medellin

Objetivo: Describir los resultados maternos y perinatales de pacientes con diagnóstico prenatal de gastrosquisis atendidos en un centro de referencia obstétrica de Medellín. Método: Estudio observacional, descriptivo y retrospectivo, llevado a cabo en la Clínica Universitaria Bolivariana en fetos con diagnóstico prenatal de gastrosquisis desde el 1 de enero de 2010 hasta el 31 de julio de 2021. Resultados: Se identificaron 54 gestantes con diagnóstico prenatal de gastrosquisis. En el 63% era su primer embarazo y el 27,8% eran adolescentes. La duración promedio de la gestación fue de 35 semanas y 6 días. La cesárea fue la vía más común (98,1%) y la indicación más frecuente fue sufrimiento de asa 66,7%. El 55,6% de los neonatos requirieron más de una intervención quirúrgica para el cierre de la pared abdominal. Las complicaciones más frecuentes fueron anemia (66,7%) e íleo posoperatorio (72,2%). La mortalidad fue del 13%. Conclusiones: Se evidencian algunas características similares a las reportadas en otras series. La mayor presentación fue en primer embarazo, la causa de finalización de la gestación fue sufrimiento de asas (demostrando la importancia del seguimiento ecográfico), y las complicaciones más frecuentes fueron anemia e íleo posoperatorio presentados por la prematuridad. La mortalidad comparada con la de otras instituciones locales fue menor.

Objective: To describe the outcomes of maternal and perinatal in patients diagnosed with prenatal gastroschisis that received medical care at an obstetric reference center in Medellin. Method: Observational, descriptive and retrospective study in fetuses with a prenatal diagnosis of gastroschisis performed in the Clínica Universitaria Bolivariana between January 1st 2010 and July 31st 2021. Results: Were included 54 pregnant women with prenatal diagnosis of gastroschisis. The 63% were their first pregnancy and 27,8% were adolescents. The average duration of gestation was 35 weeks and 6 days. Cesarean section was the most common way of delivery (98,1%) and the most frequent indication was suffering from loop (66,7%). The 55,6% of neonates required more than one surgical intervention for closure of the abdominal wall. The most frequent complications were anemia (66,7%) and postoperative ileus (72,2%). A mortality of 13% was presented. Conclusions: Some characteristics like reported in other series are evident. The greatest presentation was in the first pregnancy, the cause of termination of pregnancy was suffering from loops (demonstrating the importance of ultrasound monitoring) and the most frequent complications were anemia and postoperative ileus presented by prematurity. Mortality, compared to other local institutions, was lower.

Manejo expectante en preeclampsia severa remota del término (24-33,6 semanas): experiencia en centro de alta complejidad / Expectant management in severe preeclampsia remote from term (24-33.6 weeks): experience in a high complexity center

Resumen Introducción: la preeclampsia severa antes de 34 semanas de gestación tiene alto riesgo de complicaciones maternas y fetales. El manejo expectante, pudiera reducir el riesgo de complicaciones de un parto prematuro. Objetivo: evaluar la efectividad comparativa del manejo expectante en la prevención de desenlaces adversos maternos y perinatales de las pacientes con preeclampsia severa remota del término. Metodología: estudio de cohorte retrospectivo en gestantes con preeclampsia severa entre la 24 a 33,6 semanas, admitidas en un centro de alta complejidad colombiano entre 2011 y 2019. Se compararon medidas descriptivas según el manejo expectante o intervencionistas como grupo de referencia y, de asociación con los desenlaces compuestos maternos y neonatales, además se ajustó por edad gestacional menor a 28 semanas al parto. Resultados: se analizaron 134 pacientes, 110 con manejo expectante y 24 con intervencionista. El manejo expectante tuvo menor probabilidad de cesárea (RR 0,79 IC95% 0,69-0,91) y de resultado compuesto materno (RR 0,67 IC95% 0,57-0,79), que no persistió luego del ajuste. El manejo expectante presentó menor probabilidad de APGAR <7 al minuto (21,6% vs. 40%, RR 0,53 IC95% 0,29-0,97) y de resultado neonatal compuesto (60% vs. 83,3%, RR 0,72 IC95% 0.57-0.90). Al realizar ajuste con edad menor a 28 semanas al parto, el manejo expectante mostró menor probabilidad de APGAR menor a 7 al minuto (RR 0,43 IC95% 0,24-0,75), resultado perinatal adverso compuesto (RR 0,62 IC95% 0,48-0,81), muerte neonatal (RR 0,26 IC95% 0,29-0,71), síndrome de dificultad respiratoria (RR 0,65 IC95% 0,48-0,88), hemorragia intraventricular (RR 0,31 IC95% 0,11-0,89) e ingreso a unidad de cuidados intensivos neonatales (RR 0,80 IC95% 0,70-0,92). Conclusión: la preeclampsia severa remota del término es una patología grave y compleja que enfrenta los intereses maternos y los fetales. Debido al controversial enfoque, su manejo debe realizarse en centros de alta complejidad, con participación interdisciplinaria y anteponiendo la individualidad de cada binomio; nuestros hallazgos sugieren que el manejo expectante es razonable cuando las condiciones maternas y fetales lo permiten, especialmente para gestaciones menores a 28 semanas en favor de mejorar los desenlaces fetales sin detrimento de los desenlaces maternos.

Abstract Introduction: severe preeclampsia before 34 weeks of gestational age has a high risk of maternal and fetal complications. Expectant management could decrease the risk of complications associated with premature birth. Objective: to evaluate the efficacy of expectant management in the prevention of maternal and perinatal adverse events of patients with severe preeclampsia remote from term. Methodology: a retrospective cohort study in pregnant women diagnosed with severe preeclampsia between 24 and 33.6 weeks of gestational age who were admitted in a Colombian high complexity medical center between 2011 and 2019 was carried out. Descriptive measurements of the expectant management and the interventionist management were compared and the association with maternal and neonatal composite outcomes. Results were adjusted by gestational age under 28 weeks of delivery. Results: 134 patients were analyzed; 110 patients with expectant management and 24 interventionist management. Expectant management had a lower probability of cesarean section (RR 0.79 CI95% 0.69-0.91) and maternal composite result (RR 0.67 CI95% 0.57-0.79) that did not persist after the adjustment. Expectant management had a lower probability of APGAR <7 the first minute (21.6% vs. 40%, RR 0.53 CI95% 0.29-0.97) and neonatal composite result (60% vs. 83.3%, RR 0.72 CI95% 0.57-0.90). When adjusting the age under 28 weeks of delivery, the expectant management showed a lower probability of APGAR under 7 at minute one (RR 0.43 CI95% 0.24-0.75), composite outcome of perinatal adverse events (RR 0.62 CI95% 0.48-0.81), neonatal death (RR 0.26 CI95% 0.29-0.71), respiratory distress syndrome (RR 0.65 CI95% 0.48-0.88), intraventricular hemorrhage (RR 0.31 CI95% 0.11-0.89) and admission to the neonatal intensive care unit (RR 0.80 CI95% 0.70-0.92). Conclusion: severe preeclampsia remote from term is a severe and complex disease which faces maternal and neonatal interests. Due to approach controversies, management should be performed in high complexity centers with a multidisciplinary approach individualizing each binomial; our findings suggest expectant management is reasonable when both maternal and fetal conditions allow it, especially in pregnancies under 28 weeks of gestational age to improve fetal outcomes without risking maternal outcomes.

Caracterización de mujeres embarazadas con lupus eritematoso sistémico y resultados materno-fetales en el noroeste de Colombia. Estudio descriptivo / Characterization of pregnant women with systemic lupus erythematosus and maternofetal outcomes in Northwestern Colombia: A descriptive study

RESUMEN Objetivo: evaluar las características epidemiológicas, clínicas y de tratamiento de las mujeres embarazadas con lupus eritematoso sistémico, así como sus resultados obstétricos, en dos centros de referencia en el noroeste de Colombia. Métodos: serie de casos retrospectiva que evaluó las gestantes atendidas en la Unidad de Medicina Materno Fetal y en el servicio de Reumatología entre 2010 y 2015. Resultados: se incluyeron 40 pacientes y 43 embarazos. Edad promedio al diagnóstico: 24 ± 7 años; 22 (55 %) fueron primigestantes. La afectación clínica más frecuente fue articular (n = 32; 80 %). Ocho de 43 embarazos (18,6 %) presentaron actividad lúpica al inicio de éste. La complicación obstétrica más frecuente fue preeclampsia en 11/43 (25,6 %) embarazos. La complicación fetal más común fue el parto prematuro (8/43; 18,6 %). Los anticuerpos anticardiolipinas y anti-DNA fueron positivos en 10/43 (23,3 %) y en 15/38 (39,5 %) embarazos, respectivamente. En 13 gestaciones (31,7 %) hubo recaídas durante el tercer trimestre, y de éstas, en seis casos (46,1 %) fue grave, especialmente nefritis. Al ingreso, en 29/43 (65 %) embarazos se utilizó prednisona y en 32/43 (74,4 %) antimaláricos. En el puerperio dos pacientes presentaron recaída moderada y dos madres tuvieron preeclampsia. No se encontraron muertes maternas y la supervivencia perinatal fue 86 % (37/43 gestaciones). Discusión: en esta cohorte de pacientes con LES y embarazo, la nefritis y los anticuerpos antifosfolípidos estaban presentes en gran parte de las pacientes con complicaciones obstétricas, aunque un bajo porcentaje de pacientes estuvo activa antes de la gestación; las complicaciones maternas y fetales fueron frecuentes.

SUMMARY Objective: To evaluate the epidemiological, clinical and therapeutic characteristics of pregnant women with systemic lupus erythematosus, as well as their obstetric results, in two reference centers in northwestern Colombia. Methods: Retrospective case series that evaluated the pregnant women seen in the Maternal-Fetal Medicine and Rheumatology Units between 2010 and 2015. Results: 40 patients and 43 pregnancies were included. The average age at diagnosis: 24 ± 7 years; 22 (55 %) were primigravidae. The most common clinical affectation was articular (n = 32, 80 %). Eight of 43 pregnancies (18.6 %) presented lupus activity at the beginning of gestation. The most frequent obstetric complication was preeclampsia in 11/43 (25.6 %) pregnancies. The most common fetal complication was preterm labor (8/43, 18.6 %). Anticardiolipin and anti-DNA antibodies were positive in 10/43 (23.3%) and in 15/38 (39.5 %) pregnancies, respectively. In 13 gestations (31.7 %), there were relapses during the third trimester, and of these, in six cases (46.1 %) there were severe especially nephritis. On admission, prednisone was used in 29/43 (65 %) pregnancies and antimalarial drugs in 32/43 (74.4 %). In the puerperium, two patients had a moderate relapse and two mothers had preeclampsia. No maternal deaths were found and perinatal survival was 86% (37/43 pregnancies). Discussion: In this cohort of patients with systemic lupus erythematosus and pregnancy, nephritis and antiphospholipid antibodies were present in a large part of the patients with obstetric complications, although a low percentage of patients were active before gestation; maternal and fetal complications were frequent.

Valoración ecográfica de la laringe fetal / Ultrasound evaluation of the fetal larynx

Introducción: el diagnóstico y tratamiento prenatal de múltiples enfermedades son posibles en la actualidad dado el conocimiento anatómico, el desarrollo tecnológico y la integración de varias áreas de la medicina. Objetivo: realizar la identificación ecográfica de la anatomía de la laringe fetal. Diseño: observacional descriptivo. Metodología: se realizó un estudio descriptivo en ultrasonografías de laringes fetales de 10 gestantes en la segunda mitad del embarazo, durante la ecografía morfológica; se determinó la identificación de las estructuras, tales como epiglotis, aritenoides, pliegues vocales y su movilidad, subglotis, tráquea, división traqueoesofágica, diámetro de la subglotis y de la tráquea proximal. Resultados: lamedia de la edad gestacional de los fetos evaluados fue de 26 semanas (20-34+5) 50 % de sexo femenino y 50 % masculino; se logró la visualización de todas las estructuras laríngeas en 2D en el 100% de los casos, en ningún caso de la división traqueoesofágica. El movimiento de los pliegues vocales fue fácilmente reconocible en todos los casos. Conclusiones: aunque las alteraciones congénitas laríngeas representan una baja incidencia, es fundamental el desarrollo en el conocimiento de la anatomía laríngea desde el punto de vista fetal para su diagnóstico ecográfico y posible tratamiento temprano.

Objective: Prenatal diagnosis and treatment for multiple diseases are now possible thanks to the anatomic knowledge available, the technological development and the integration of different areas of medicine; the aim of this study was to identify through ultrasound the anatomy of the fetal larynx. Design: Descriptive study. Methods: a descriptive study with ultrasounds of 10 pregnant women's fetuses' larynges during the second half of their gestation was carried out, during the morphological ultrasound structures such as the epiglottis, arytenoids, vocal folds and their movement, subglottis, trachea, tracheoesophageal division, subglottis diameter and proximal trachea were identified. Results: The fetuses' gestational age median was 26 weeks (20-34+5), 50 % females, 50 % males. The visualization of all laryngeal structures in 2D was possible in 100 % of the cases; the tracheoesophageal division was not seen in any case. The movement of the vocal folds was easily identified in all cases. Conclusions: Even though laryngeal congenital anomalies show low incidence, the development of the larynx anatomic knowledge at the fetal stage is fundamental to early diagnose diseases, anomalies and disorders through ultrasound and have the possibility of recommending early treatments.

Prediction of neonatal respiratory morbidity by quantitative ultrasound lung texture analysis: a multicenter study.

BACKGROUND: Prediction of neonatal respiratory morbidity may be useful to plan delivery in complicated pregnancies. The limited predictive performance of the current diagnostic tests together with the risks of an invasive procedure restricts the use of fetal lung maturity assessment. OBJECTIVE: The objective of the study was to evaluate the performance of quantitative ultrasound texture analysis of the fetal lung (quantusFLM) to predict neonatal respiratory morbidity in preterm and early-term (<39.0 weeks) deliveries. STUDY DESIGN: This was a prospective multicenter study conducted in 20 centers worldwide. Fetal lung ultrasound images were obtained at 25.0-38.6 weeks of gestation within 48 hours of delivery, stored in Digital Imaging and Communication in Medicine format, and analyzed with quantusFLM. Physicians were blinded to the analysis. At delivery, perinatal outcomes and the occurrence of neonatal respiratory morbidity, defined as either respiratory distress syndrome or transient tachypnea of the newborn, were registered. The performance of the ultrasound texture analysis test to predict neonatal respiratory morbidity was evaluated. RESULTS: A total of 883 images were collected, but 17.3% were discarded because of poor image quality or exclusion criteria, leaving 730 observations for the final analysis. The prevalence of neonatal respiratory morbidity was 13.8% (101 of 730). The quantusFLM predicted neonatal respiratory morbidity with a sensitivity, specificity, positive and negative predictive values of 74.3% (75 of 101), 88.6% (557 of 629), 51.0% (75 of 147), and 95.5% (557 of 583), respectively. Accuracy was 86.5% (632 of 730) and positive and negative likelihood ratios were 6.5 and 0.3, respectively. CONCLUSION: The quantusFLM predicted neonatal respiratory morbidity with an accuracy similar to that previously reported for other tests with the advantage of being a noninvasive technique.

Evaluación de las características operativas de la relación proteína/creatinina en orina ocasional para la detección de proteinuria significativa en gestantes con sospecha de preeclampsia / Assessment of the operational characteristics of the protein / creatinine ratio in occasional urine for the detection of significant proteinuria in pregnant women with suspected preeclampsia

Objetivo: analizar la sensibilidad y especificidad de la relación proteína / creatinina en orina como método de detección de proteinuria en mujeres con sospecha de preeclampsia, teniendo en cuenta como estándar de oro la proteinuria en 24 horas. Materiales y métodos: en un estudio de corte transversal se incluyeron mujeres con embarazo mayor a 20 semanas, hospitalizadas en la Clínica Universitaria Bolivariana de Medellín por sospecha de preeclampsia. Se excluyeron gestantes con infección urinaria al momento del estudio, antecedentes de patologías crónicas que pudieran causar proteinuria y aquellas que no completaron la recolección de la muestra. A todas las pacientes se les realizó una medición de la relación proteína / creatinina en orina ocasional y la proteinuria en 24 horas. Se evaluó la correlación entre estas dos pruebas y el punto de corte de la relación proteína / creatinina con mejor rendimiento para la detección de proteinuria significativa. Resultados: se incluyeron 200 muestras de orina, encontrando proteinuria significativa en un 27 % del total de las muestras. La relación proteína / creatinina en orina ocasional mostró una alta correlación con la proteinuria de 24 horas (r = 0,775; p < 0,01). El punto de corte con mejor rendimiento para la detección de proteinuria significativa fue 0,30 mg/ mg, con una sensibilidad de 83 %, especificidad de 98 %, LR positivo de 60 y LR negativo de 0,17. Conclusión: la relación proteína / creatinina en orina ocasional puede ser usada como un método rápido, alternativo, para la determinación de proteinuria en pacientes con sospecha de preeclampsia.

Objective: To analyse the sensitivity and specificity of the protein/creatinine ratio in the urine as a method for detecting proteinuria in women with suspected preeclampsia, considering 24-hour proteinuria as the gold standard. Materials and methods: Cross-sectional study that included women with more than 20 weeks of gestation, admitted to Clinica Universitaria Bolivariana in Medellín because of suspected preeclampsia. Pregnant women with urinary infection at the time of the study, patients with a history of chronic diseases that could cause proteinuria, and women who did not complete the sample collection were excluded. Urine protein/creatinine ratio as well as proteinuria were measured in all the patients included in the study. The correlation between the two tests and the cut-off point for the protein/creatinine ratio with the best performance for the detection of significant proteinuria were evaluated. Results: Overall, 200 urine samples were included and significant proteinuria was found in 27 % of the total number of samples. The protein/creatinine ratio in occasional urine was found to have a high correlation with 24-hour proteinuria(r = 0.775, p < 0.01). The cut-off point with the best performance for detecting significant proteinuria was found to be 0.30 mg /mg, with an 83 % sensitivity and a 98 % specificity, with a positive LR of 60 and a negative LR of 0.17. Conclusion: The protein/creatinine ratio in occasional urine may be used as a fast alternative method for determining the presence of proteinuria in patients with suspected preeclampsia.

Postsystolic shortening by myocardial deformation imaging as a sign of cardiac adaptation to pressure overload in fetal growth restriction.

BACKGROUND: Fetal growth restriction (FGR) is associated with global adverse cardiac remodeling in utero and increased cardiovascular mortality in adulthood. Prenatal myocardial deformation has not been evaluated in FGR to date. We aimed to evaluate prenatal cardiac remodeling comprehensively in FGR including myocardial deformation imaging. METHODS AND RESULTS: Echocardiography was performed in 37 consecutive FGR (defined as birthweight <10th centile) and 37 normally grown fetuses. A comprehensive fetal echocardiography was performed including tissue Doppler and 2-dimensional-derived strain and strain rate. Postnatal blood pressure measurement at 6 months of age was also performed. FGR cases showed signs of more globular hearts with decreased longitudinal motion (left systolic annular peak velocity: controls mean 6 cm/s [SD 1.2] versus FGR 5.3 [1]) and diastolic dysfunction (isovolumic relaxation time: controls 44 ms [6] versus FGR 52 [9]). Peak strain and strain rate values of the left ventricle were not significantly different; however, a postsystolic shortening in the basal segment of the septal ventricular wall was observed in 57% of the FGR cases and in none of controls (P<0.001). FGR cases with postsystolic shortening had absence of a hypertrophic response, a poorer perinatal outcome (lower gestational age and birthweight, containing all cases of perinatal mortality [8%]), and higher values of blood pressure. CONCLUSIONS: Myocardial deformation imaging revealed a postsystolic shortening in 57% of FGR, which supports increased pressure overload as a mechanism for cardiovascular programming in FGR. Postsystolic shortening was associated with severity and with higher blood pressure postnatally.

Efectos del alta hospitalaria temprana en el periodo posparto en la Clínica del Prado, Medellín, Colombia / Effects of early discharge in the postpartum period in la Clínica del Prado, Medellín, Colombia / Efeitos da alta hospitalar precoce no período pós-parto na Clínica del Prado, Medellín, Colômbia

Problema: evaluar el efecto del alta hospitalaria temprana en pacientes sanas. Objetivo: establecer el riesgo de complicaciones en pacientes obstétricas con alta temprana respecto a aquellas que egresan después de 24 horas. Métodos: cohorte prospectiva con seguimiento postparto. Resultados: 750 pacientes, edad promedio de 24,5 años y edad gestacional de 38,5 semanas. El porcentaje de consulta luego del alta fue 2,0%. El efecto del alta hospitalaria temprana sobre la necesidad de consultar luego del egreso tuvo un RR=0,62 (IC 95%=0,22 - 1,73). Estratificando según vía del parto se encontró en las pacientes con parto vaginal un RR = 0,11 (IC 95%=0,014 - 0,933), y en aquellas sometidas a cesárea un RR = 1,91 (IC 95%=0,247 - 13,32). Conclusión: no se presentaron más complicaciones en el grupo con egreso antes de las 24 horas. El alta hospitalaria temprana se comportó como factor protector sobre la necesidad de consultar a una institución hospitalaria en las pacientes con parto vaginal.

Problem: Assess early discharge in healthy patients Aim: To establish the risk of obstetric complications in patients with early discharge compared to those who leave after 24 hours. Methods: prospective cohort with postpartum follow up. Results: 750 patients, mean age of 24,5 years and average of gestational age of 38,5 weeks. The overall rate of consulting to an er after discharge was 2,0%. The effect of early discharge on the need to consult had a RR=0,62 (95% CI: 0,22 - 1,73). By adjusting the analysis by the way of delivery, in patients whose delivery was vaginal, the effect had a RR = 0,11 (95 % CI: 0,014 - 0,933) and in patients undergoing caesarean section, the effect had a RR = 1,91 (95% CI: 0,274 - 13,32). Conclusion: there was a protective effect of early discharge on the need to consult a hospital, in patients who delivered vaginally.

Problema: avaliar o efeito da alta hospitalar precoce em pacientes sanas. Objetivo: determinar o risco de complicações em paciente obstétrica com alta precoce, no que diz respeito daquelas que afastam após 24 horas. Métodos: coorte prospectiva com . Resultados: 750 pacientes, idade média de 24,5 anos e idade gestacional de 38,5 semanas. A porcentagem de consulta após a alta foi 2,0%. O efeito da alta hospitalar precoce sobre a necessidade de consultar após o egresso obteve um RR=0,62 (IC 95%=0,22 - 1,73). Estratificando de acordo com a via do parto foi encontrado em pacientes com parto natural um RR = 0,11 (IC 95%=0,014 - 0,933), e em aquelas submetidas a cesariana, um RR = 1,91 (IC 95%=0,247 - 13,32). Conclusão: não apresentaram--se mais complicações na turma com egresso antes das 24 horas. A alta hospitalar precoce se comportou como fator protetor sobre a necessidade de consultar uma instituição hospitalar nas pacientes com parto natural.

Hernia diafragmática congénita: criterios pronósticos y estado actual del tratamiento prenatal. Guía clínica / Congenital diaphragmatic hernia: prognosis and current status of fetal therapy. A practice guideline

La hernia diafragmática congénita es una malformación severa con mal pronóstico neonatal que frecuentemente se encuentra asociada a anomalías genéticas y malformaciones en otros sistemas. Una vez se ha diagnosticado, se ha de poner en marcha un protocolo de estudio con el objetivo primario de descartar anomalías asociadas y valorar factores pronósticos, esencialmente tamaño pulmonar y herniación hepática. Con ello se puede ofrecer un pronóstico de supervivencia relativamente preciso e individualizado a los padres. Las opciones de manejo disponibles en la actualidad incluyen la interrupción de la gestación, conducta expectante prenatal con tratamiento postnatal y terapia fetal. La terapia fetal se ofrece por parte del consorcio FETO (Barcelona, Londres, Lovaina) y otros centros en el mundo. Los resultados disponibles de varias series publicadas sugieren que la terapia fetal incrementa la supervivencia en un 35-40% respecto a la supervivencia de base. Existen diversos estudios aleatorizados multicéntricos para evaluar diferentes aspectos relevantes sobre la técnica y sus beneficios(AU)

Congenital diaphragmatic hernia (CDH) is a severe congenital birth defect, which is commonly associated with genetic abnormalities and malformations in other systems. Once the diagnosis is made, there should be a thorough evaluation to confirm that the malformation is isolated, as well as an assessment of prognostic factors, essentially lung size and liver herniation. With these parameters an individualized and relatively accurate prognosis can be offered to parents. Management options include termination of pregnancy, conservative prenatal management and post-natal treatment, or fetal therapy. Fetal therapy consists of fetal endoscopic tracheal occlusion (FETO) and is offered in a small number of centers worldwide. Available evidence suggests that prenatal treatment might increase the chances of survival by 35-40% compared with baseline survival. Several randomized trials are now underway to assess the impact of therapy on very severe and moderate cases of CDH(AU)

The effect of maternal age on chromosomal anomaly rate and spectrum in recurrent miscarriage.

STUDY QUESTION: Is there any effect of maternal age on chromosomal anomaly rate and spectrum in recurrent miscarriage? SUMMARY ANSWER: There was no significant difference in the chromosome abnormality rate between sporadic and recurrent miscarriage but the chromosome abnormality rate increased significantly with maternal age. WHAT IS KNOWN ALREADY: About 50-70% of non-recurrent miscarriages occur because of a chromosomal anomaly, but no agreement about the effect of either maternal age or the number of previous miscarriages on the chromosomal anomaly rate has been reached. STUDY DESIGN, SIZE, DURATION: A retrospective cohort of 353 miscarriages successfully karyotyped in the same center between 2002 and 2011, grouped according to the number of miscarriages and maternal age. PARTICIPANTS/MATERIALS, SETTING, METHODS: Among the 353 women, 153 were below 35 years (73 with sporadic, 48 with two and 32 with recurrent miscarriage) and 200 were 35 years or more (81 with sporadic, 55 with two and 64 with recurrent miscarriage). The chromosomal anomaly rate and the anomaly spectrum were compared between sporadic and recurrent miscarriage, within the two maternal age groups, using the chi-square test and the Bonferroni correction for all the P-values. Risk of chromosomal anomaly was estimated for maternal age, number of miscarriages and previous live births by multivariate binary logistic regression analysis. MAIN RESULTS AND THE ROLE OF CHANCE: Sporadic and recurrent miscarriage did not show significantly different chromosomal anomaly rates (68 versus 60%) and maternal age was the only statistically significant predictor of the chromosomal anomaly risk we identified. Some trends were observed in the chromosomal anomaly spectrum when sporadic was compared with recurrent miscarriage: recurrent miscarriage exhibited a decrease in viable trisomies (37 versus 11%) and an increase in non-viable trisomies (38 versus 57%) in women >35 years, together with an increase in unbalanced structural anomalies (4.9 versus 29%) in younger women. LIMITATION, REASONS FOR CAUTION: The mixed origin of our study population, and the limited number of recurrent miscarriages, particularly in the younger group, limits statistical power to detect differences. WIDER IMPLICATIONS OF THE FINDINGS: The most commonly observed chromosomal anomaly type in recurrent miscarriage depends on maternal age: non-viable autosomal trisomies in older women and unbalanced structural anomalies in younger women. When a chromosomal anomaly is identified as the cause of miscarriage, additional maternal evaluation may be avoided. STUDY FUNDING/COMPETING INTERESTS: No competing interests declared.

Updated reference ranges for the ductus venosus pulsatility index at 11-13 weeks.

OBJECTIVE: To update the reference ranges for the ductus venosus pulsatility index (DVPI) at 11+0 to 13+6 gestational weeks. METHODS: DVPI was calculated in 14,444 singleton fetuses at 11+0 to 13+6 weeks in two Fetal Medicine Centers, during a 4-year period. Using previously described medians, DVPI evolution was assessed both over the study period on a yearly basis and over gestation, grouping fetuses according to 5-mm crown-rump length (CRL) ranges. Weighted DVPI medians, the 5th and 95th percentiles and distribution parameters for unaffected and trisomy 21 fetuses were newly calculated. RESULTS: A significant DVPI multiple of the median decrease was observed over both the study period (p < 0.01) and over gestation (p < 0.01) using previous medians, in the two centers. Newly calculated weighted medians were lower than those previously described, decreasing with CRL. Distribution parameters calculated using the new medians were different from those previously described. CONCLUSION: DVPI reference ranges were lower than those previously reported and decreased with CRL. Updated medians and distribution parameters should be considered to include the DVPI as a Gaussian marker in trisomy 21 screening and for quality control purposes.

Feasibility and reproducibility of a standard protocol for 2D speckle tracking and tissue Doppler-based strain and strain rate analysis of the fetal heart.

PURPOSE: Assessment of cardiac function in the fetal heart is challenging because of its small size and high heart rate, restricted physical access to the fetus, and impossibility of fetal ECG recording. We aimed to standardize the acquisition and postprocessing of fetal echocardiography for deformation analysis and to assess its feasibility, reproducibility, and correlation for longitudinal strain and strain rate measurements by tissue Doppler imaging (TDI) and 2D speckle tracking (2D-strain) during pregnancy. METHODS: Echocardiography was performed in 56 fetuses. 2D and color TDI in apical or basal four-chamber views were recorded for subsequent analysis. Caution was taken to achieve a frame rate >70 Hz for speckle tracking and >150 Hz for TDI analysis. For each acquisition, 7.5 s of noncompressed data were stored in cine loop format and analyzed offline. Since fetal ECG information is by definition not available, aortic valve closure was marked from aortic flow and the onset of each cardiac cycle was manually indicated in the 2D images. Sample volume length was standardized at the minimum size. Two observers measured the left and right ventricular peak systolic longitudinal strain and strain-rate. RESULTS: Strain and strain rate measurements were feasible in 93% of the TDI and 2D-strain acquisitions. The mean time spent on analyzing TDI images was 18 min, with an intraclass agreement coefficient of 0.86 (95% CI 0.77-0.92), 0.83 (95% CI 0.72-0.90), 0.96 (95% CI 0.93-0.98), and 0.86 (95% CI 0.76-0.92) for basal left and right free wall peak systolic strain and strain rate, respectively. Agreement between observers using tissue Doppler also showed high reliability. The mean time spent for 2D-strain analysis was 15 min, with an intraclass agreement coefficient of 0.97 (95% CI 0.95-0.98), 0.94 (95% CI 0.89-0.96), 0.96 (95% CI 0.93-0.98), and 0.84 (95% CI 0.73-0.90) for basal left and right free wall peak systolic strain and strain rate, respectively. Agreement between observers also showed a high reliability that was similar for TDI and 2D-strain. There was a weak correlation between TDI and 2D-strain measurements. CONCLUSIONS: A standard protocol with fixed acquisition and processing settings, including manual indication of the timing events of the cardiac cycle to correct for the lack of ECG, was feasible and reproducible for the evaluation of longitudinal ventricular strain and strain rate of the fetal heart by TDI as well as 2D-strain analysis. However, both techniques are not interchangeable as the correlation between them is relatively poor.

Biopsia corial transcervical: guía práctica / Chorionic villous sampling: a practice guideline

La anticipación del cribado de las aneuploidías fetales al primer trimestre ha requerido implementar técnicas diagnósticas en este momento de la gestación. La biopsia de vellosidades coriales (BVC) es un procedimiento diagnóstico invasivo en Medicina Materno-Fetal, que consiste en la obtención de vellosidades coriales para estudio citogenético, molecular o bioquímico. Existen dos vías para la realización de la BVC, la transcervical y la transabdominal. La preferencia por una de las dos vías se ha basado históricamente en factores como son la localización placentaria, paridad, peso materno, preferencias del operador, etc. En nuestra institución pasamos a utilizar la vía transcervical de manera casi exclusiva, con resultados ventajosos para la gestante y el laboratorio. Todo ello, sin diferencias en cuanto a la tasa de pérdida gestacional u otras complicaciones. A pesar de 3 décadas de uso de la BVC transcervical, existe poco consenso en cuanto a su técnica y las guías clínicas específicas para su realización son escasas. Aprovechando la experiencia y el volumen acumulado de procedimientos realizados en nuestro centro, hemos planteado una guía clínica eminentemente práctica para la realización de BVC transcervical (AU)

Early screening for foetal aneuploidies in the first trister has required the introduction of diagnostic procedures appropriate for this period of pregnancy. Chorionic villi sampling(CVS) is an invasive diagnostic procedure in Maternal-Foetal Medicine to obtain chorionic villi for cytogenetic, molecular or biochemical analysis. There are two routes for CVS, transcervical and transabdominal. Preference for one of two routes has been historically based on factors such as, placental location, parity, maternal weight, operator preferences, etc. Our institution switched to using the transcervical approach almost exclusively, with advantages for the patients and laboratory with no differences in the pregnancy loss rate and other complications. Despite 3 decades of CVS use, there is no consensus as regards its application, and practice guidelines are few. Taking advantage of our experience with a large amount of procedures, we propose this practice guideline (AU)