Resultados perinatales tras prueba diagnóstica invasiva en el embarazo / Perinatal outcomes after invasive diagnostic test in pregnancy

Introducción: Las técnicas invasivas de diagnóstico prenatal nos permiten realizar pruebas genéticas. El desarrollo de técnicas no invasivas ha reducido su uso. Clásicamente se ha afirmado que, tras realizar la técnica invasiva, la tasa de pérdida fetal se sitúa en torno al 1%. Los datos publicados son heterogéneos, y aunque todo indica que se ha sobrestimado el riesgo, necesitamos realizar nuevos estudios. Material y métodos: En nuestro estudio retrospectivo unicéntrico analizamos los procedimientos realizados mediante técnicas invasivas de diagnóstico prenatal entre 2011 y 2019, incluyendo 832 técnicas invasivas realizadas. Los resultados perinatales se comparan con el grupo control de mujeres embarazadas (n=1.734). Resultados: La tasa de pérdida fetal temprana para las diferentes técnicas fue de 1,1% para amniocentesis, del 1,6% para biopsia corial transvaginal y del 0,5% para biopsia corial abdominal, con una tasa total del 1,1%, sin diferencias estadísticamente significativas entre ellas (p=0,57). Encontramos diferencias en el desenlace fetal, en cuanto a la variable pérdida fetal temprana, en relación con los intentos realizados (cuando se hacían tres intentos aumentaba el riesgo). Al comparar los resultados perinatales posparto del grupo sometido a técnicas con el grupo control, se encontró una mayor tasa de cesáreas en el grupo estudio (28,9% vs 20,5%), además de una menor edad gestacional media al parto (38,33 vs. 38,95 semanas). Discusión: Cuando la técnica invasiva se realiza en el momento adecuado y con no más de dos intentos, consideramos que el riesgo de pérdida fetal no se ve afectado por su realización, siendo igual al de la población general.(AU)

Introduction: Invasive prenatal diagnostic techniques allow us to conduct genetic tests. The development of non-invasive techniques has reduced their use. The foetal loss rate following an invasive procedure is considered to be around 1%. The published data is heterogeneous however, although everything indicates that the risk has been overestimated, we need to conduct further studies. Material and methods: In our single-centre retrospective study we analysed the procedures carried out using invasive prenatal diagnostic techniques between 2011 and 2019. A total of 832 invasive techniques were performed. Perinatal results are compared with a control group of pregnant women (n=1734). Results: The early foetal loss rate for the different techniques were 1.1% for amniocentesis, 1.6% for transvaginal chorionic biopsy and 5% for abdominal chorionic biopsy, with a total rate of 1.1%, without statistically significant differences between them (P=.57). We found differences in foetal outcome, in terms of variable early foetal loss, related to the attempts made (when three attempts were made, the risk increased). When comparing the perinatal outcomes after delivery of the group that underwent techniques with the control group, a higher rate of caesarean sections was found in the study group (28.9% vs 20.5%), in addition to lower mean gestational age at delivery (38.33 vs. 38.95 weeks). Discussion: When the invasive technique is performed at the right time and with no more than two attempts, we consider that the risk of foetal loss is not affected, and is equal to that of the general population.(AU)

Debut y manejo de leucemia mieloblástica aguda durante la gestación: a propósito de un caso / Debut and management of acute myeloblastic leukaemia during pregnancy: a case report

La leucemia mieloide aguda (LMA) es una de las neoplasias hematológicas más mortales. Durante el embarazo es una complicación rara, que puede dar resultados adversos, como la muerte, sin tratamiento adecuado. El manejo de la LMA durante el embarazo sigue siendo un desafío. Presentamos el caso de una mujer primigesta de 34 años con 18 semanas de gestación que acudió a Urgencias por cuadro de dolor e hipertrofia de mucosa oral, acompañado de astenia intensa. Se diagnóstico leucemia mieloblástica aguda (LAM-M4). Se ofertó posibilidad de interrumpir la gestación, dada la poca evidencia referente a la evolución materno-fetal, que la paciente rechazó, por lo que se inició tratamiento quimioterápico. En los controles ecográficos no se evidenciaron alteraciones teratogénicas; el crecimiento fetal tuvo parámetros normales, sin alteraciones en los valores del flujo Doppler. Se decidió finalizar gestación a las 32 semanas y tres días. Nació un varón pretérmino mediante parto eutócico con test de Apgar y pH de cordón umbilical normales, sin precisar reanimación. El puerperio fue favorable y a los 15 días del alta ingresó para un trasplante de médula ósea de su hermana, HLA idéntica. La paciente finalmente falleció por rechazo del trasplante y las complicaciones derivadas de este suceso.

Acute myeloid leukaemia (AML) is one of the deadliest haematological malignancies. During pregnancy it is a rare comorbidity and can lead to adverse outcomes, such as death, without adequate treatment. The management of AML during pregnancy remains a challenge. We report the case of a primigravida 34-year-old, with 18 weeks of amenorrhoea, who attended the emergency department presenting with pain and hypertrophy of the oral mucosa, accompanied by intense asthenia. Acute myeloblastic leukaemia was diagnosed. The possibility of terminating the pregnancy was offered given the lack of evidence regarding the maternal-foetal outcome, but the patient rejected it, so chemotherapy treatment was started. In the ultrasound controls there was no evidence of teratogenic alterations nor foetal growth restriction, and there were no alterations in Doppler flow values. It was decided to end the pregnancy at 32+3 GW. A preterm male was born through eutocic delivery with a normal Apgar test and umbilical cord pH, and did not require resuscitation. The puerperium was favourable and 15 days following discharge she was admitted for a bone marrow transplant from her HLA identical sister. The patient died due to rejection of the transplant and the complications derived from this event.

Spanish Guidelines for Diagnosis, Management, Treatment, and Prevention of DRESS Syndrome.

BACKGROUND AND OBJECTIVE: Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a complex multisystemic severe drug hypersensitivity reaction whose diagnosis and management are troublesome. DRESS syndrome requires management by various specialists. The correct identification of the culprit drug is essential to ensure safe future therapeutic options for the patient. There are no previous Spanish guidelines or consensus statements on DRESS syndrome. Objective: To draft a review and guidelines on the clinical diagnosis, allergy work-up, management, treatment, and prevention of DRESS syndrome in light of currently available scientific evidence and the experience of experts from multiple disciplines. METHODS: These guidelines were drafted by a panel of allergy specialists from the Drug Allergy Committee of the Spanish Society of Allergy and Clinical Immunology (SEAIC), together with other medical specialists involved in the management of DRESS syndrome and researchers from the PIELenRed consortium. A review was conducted of scientific papers on DRESS syndrome, and the expert panel evaluated the quality of the evidence of the literature and provided grades of recommendation. Whenever evidence was lacking, a consensus was reached among the experts. RESULTS: The first Spanish guidelines on DRESS syndrome are now being published. Important aspects have been addressed, including practical recommendations about clinical diagnosis, identification of the culprit drug through the Spanish pharmacovigilance system algorithm, and the allergy work-up. Recommendations are provided on management, treatment, and prevention. Algorithms for the management of DRESS in the acute and recovery phases have been drawn up. Expert consensus-based stepwise guidelines for the management and treatment of DRESS syndrome are provided.

Heterogeneous Predisposing Factors and Etiology of Edema of the Uvula in a Spanish Population.

BACKGROUND AND OBJECTIVE: Edema of the uvula (EU) may appear in isolation or in association with clinical manifestations such as urticaria, angioedema, and anaphylaxis. EU may lead to upper airway obstruction, provoking obstructive respiratory distress and asphyxia. Objective: We sought to investigate the etiology of and predisposing factors for EU in a large population of patients referred to an outpatient clinic. METHODS: In this 3-year follow-up cohort study, 171 patients presenting with EU were identified and classified as having isolated EU or nonisolated EU. The etiology of each patient's condition was studied, and possible predisposing factors were recorded. An allergology work-up and a statistical study (bivariate/multivariate analyses) were performed. RESULTS: The predisposing factors for both groups of EU patients were found to be different. The etiology of the problem was identified for most patients; allergy to Anisakis simplex was the most common cause in both groups. Nonsteroidal anti-inflammatory drugs and antibiotics were also found to be triggers in both groups. CONCLUSIONS: Isolated EU was associated with snoring, an elongated uvula, and having experienced previous episodes of EU. We found no associations between groups of EU patients and gender, obesity, smoking, alcohol consumption, personal and family history of atopy, and obstructive sleep apnea. Allergy to A simplex was the most commonly recorded cause.

Component-resolved diagnosis in hymenoptera allergy.

Component-resolved diagnosis based on the use of well-defined, properly characterised and purified natural and recombinant allergens constitutes a new approach in the diagnosis of venom allergy. Prospective readers may benefit from an up-to-date review on the allergens. The best characterised venom is that of Apis mellifera, whose main allergens are phospholipase A2 (Api m1), hyaluronidase (Api m2) and melittin (Api m4). Additionally, in recent years, new allergens of Vespula vulgaris have been identified and include phospholipase A1 (Ves v1), hyaluronidase (Ves v2) and antigen 5 (Ves v5). Polistes species are becoming an increasing cause of allergy in Europe, although only few allergens have been identified in this venom. In this review, we evaluate the current knowledge about molecular diagnosis in hymenoptera venom allergy.

Allergic reaction to polyethylene glycol in a painter.

We report a case of a male painter who visited our outpatient clinic after developing a distinct skin reaction 15 min after the ingestion of a laxative solution containing polyethylene glycol (PEG) prior to colonoscopy. He described suffering from the same skin reaction when he was previously exposed to paints that contained PEG-4000. An exposure challenge test with pure PEG-4000, simulating his workplace conditions, elicited a generalized urticarial reaction. Allergy to PEG should be considered in painters who develop urticarial or other systemic symptoms after handling PEG-containing products.