Concordancia entre el diagnóstico por imagen y la histología en las malformaciones pulmonares congénitas / Diagnostic accuracy of imaging compared to histology in congenital lung malformations

Introducción: El objetivo fue evaluar la concordancia entre las pruebas de imagen, la ecografía prenatal y la TC posnatal empleadas en el diagnóstico de malformaciones pulmonares congénitas (MPC) y el estudio anatomopatológico (AP).Material y métodos: Estudio retrospectivo de pacientes diagnosticados prenatalmente de MPC en los que se realizó seguimiento posnatal incluyendo una TC y un estudio AP de la lesión. Las variables estudiadas incluyeron: datos demográficos, edad gestacional al diagnóstico, hallazgos ecográficos y existencia de gestación múltiple. Utilizamos el coeficiente estadístico Kappa para establecer la concordancia entre la ecografía y las pruebas postnatales (TC y AP). Se analizaron de forma pareada la presencia de lesiones, la localización, el tipo y el tamaño, y la presencia de vascularización sistémica.Resultados: Se incluyeron 56 pacientes con 57 lesiones. La edad gestacional media al diagnóstico fue 22,42±3,94 semanas y el 57% fueron varones. El pulmón izquierdo y los lóbulos inferiores fueron los más afectados. La concordancia entre TC y AP en la detección de lesiones quísticas fue moderada (Kappa=0,55) pero más relevante que la detectada entre ecografía y AP (Kappa=0,10), siendo discreta entre ambas pruebas de imagen. La concordancia TC/AP fue sustancial (Kappa=0,66) en la detección de vascularización sistémica de la lesión y superior a la determinada entre ecografía y AP. Ambas pruebas de imagen demostraron una precisión muy buena en la identificación de la localización de las lesiones.Conclusiones: La TC posnatal ofrece una concordancia sustancial con el estudio histológico, especialmente en la detección de vascularización, y nos aporta datos predecibles sobre la anatomía de la lesión.(AU)

Introduction: The aim of this study was to evaluate the accuracy of imaging tests (prenatal ultrasound [US] and postnatal computed tomography [CT]) in comparison to histology for diagnosis of congenital lung malformations (CLMs).Material and methods: Retrospective study of patients with a prenatal diagnosis of CLM whose postnatal followup included thoracic CT scan and histological examination of the lesion. We collected data on demographic variables, gestational age at diagnosis, US findings and the history of multiple gestation. We used the kappa coefficient to determine the level of agreement between the findings of prenatal US and postnatal tests (CT and histology). We analysed paired data on the size of the lesion, its location and the presence or absence of systemic arterial vascularization.Results: The sample included 56 patients with 57 lesions. The mean gestational age at diagnosis was 22.42 weeks (SD, 3.94) and 57% were male. Malformations most frequently involved the left lung and the lower lobes. The agreement between CT and histology in the detection of cystic lesions was moderate (κ=.55) but stronger compared to the agreement between US and histology (κ=.10). The agreement between CT and histology was substantial (κ=.66) in the detection of systemic vascularization of the lesion and stronger compared to the agreement between US and histology. Both imaging methods were highly accurate in the identification of the location of the pulmonary lesions.Conclusions: Postnatal CT offers a substantial concordance with histological findings, especially in the detection of systemic vascularization, and an accurate prediction of the anatomy of the lesion.(AU)

Diagnostic accuracy of imaging compared to histology in congenital lung malformations.

INTRODUCTION: The aim of this study was to evaluate the accuracy of imaging tests (prenatal ultrasound [US] and postnatal computed tomography [CT]) in comparison to histology for diagnosis of congenital lung malformations (CLMs). MATERIAL AND METHODS: Retrospective study of patients with a prenatal diagnosis of CLM whose postnatal follow-up included thoracic CT scan and histological examination of the lesion. We collected data on demographic variables, gestational age at diagnosis, US findings and the history of multiple gestation. We used the kappa coefficient to determine the level of agreement between the findings of prenatal US and postnatal tests (CT and histology).We analysed paired data on the size of the lesion, its location and the presence or absence of systemic arterial vascularization. RESULTS: The sample included 56 patients with 57 lesions. The mean gestational age at diagnosis was 22.42 weeks (SD, 3.94) and 57% were male. Malformations most frequently involved the left lung and the lower lobes. The agreement between CT and histology in the detection of cystic lesions was moderate (κ = 0.55) but stronger compared to the agreement between US and histology (κ = 0.10). The agreement between CT and histology was substantial (κ = 0.66) in the detection of systemic vascularization of the lesion and stronger compared to the agreement between US and histology. Both imaging methods were highly accurate in the identification of the location of the pulmonary lesions. CONCLUSIONS: postnatal CT offers a substantial concordance with histological findings, especially in the detection of systemic vascularization, and an accurate prediction of the anatomy of the lesion.

Prenatal Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy: A Promising Way to Change the Impact of Cystic Fibrosis.

INTRODUCTION: Cystic fibrosis (CF) is a potentially severe disease. The development of new therapies with cystic fibrosis transmembrane conductance regulator (CFTR) modulators has been a great advance in the management of this condition because they improve the function of the faulty CFTR protein rather than palliate its consequences. CFTR modulator therapy improves pancreatic and lung function and, therefore, quality of life, with greater benefits the sooner treatment is started. For this reason, the use of these therapies is being approved for increasingly younger patients. Only two cases of pregnant women taking CFTR modulator therapy with CF fetuses have been reported, suggesting that it could resolve meconium ileus (MI) prenatally and delay/prevent other consequences of CF. CASE PRESENTATION: We report a case of a healthy pregnant patient who underwent CFTR modulator therapy with elexacaftor-tezacaftor-ivacaftor (ETI) in order to treat her fetus with CF (F508del homozygous CFTR mutation) and MI. Ultrasound findings suggestive of MI were observed at 24 weeks. Both parents were tested for CFTR mutations, and both were carriers of the F508del CFTR mutation. The fetus was diagnosed with CF by amniocentesis at 26+2 weeks. Maternal ETI therapy was initiated at 31+1 weeks, and no dilated bowel was observed at 39 weeks. There were no signs of bowel obstruction after birth. Maternal ETI treatment was continued during breastfeeding, with normal liver function. Immunoreactive trypsinogen in the newborn was 58.1 ng/mL, sweat chloride test was 80 mmol/L, and fecal elastase on the second day of life was 58 µg/g. CONCLUSION: Prenatal ETI treatment, as well as during breastfeeding, could solve, prevent, and/or delay CF complications.

Application of a Global Multiparameter Scoring System for the Prenatal Prediction of Coarctation of the Aorta.

To assess prospectively the capability of our previously reported global multiparameter scoring system to predict coarctation of the aorta (CoAo) in fetuses with cardiac asymmetry, we applied and analyzed the performance of our scoring system in predicting postnatal CoAo in fetuses undergoing prenatal echocardiographic assessment because of cardiac asymmetry between 2011 and 2021, and we determined the cut-off points of the score with the best balance between specificity and sensitivity, and of maximum sensitivity and specificity. CoAo was confirmed in 39/179 newborns (21.8%). We found a significantly higher probability of CoAo in fetuses with CoAo than in cases without CoAo (84.2 ± 18.2% vs. 26.0 ± 28.6%, p < 0.001). The AUC of the ROC of the score was 0.93 (95% CI 0.89-0.97). The cut-off value with the best balance between specificity and sensitivity was a predicted risk of ≥53% (sensitivity 92.3% and specificity 80.0%). The cut-off point of maximum sensitivity was ≥35% (sensitivity 100% and specificity 72.9%), and that of maximum specificity was ≥96% (sensitivity 43.6% and specificity 96.4%). In none of the fetuses with a probability of CoAo < 35% was this condition confirmed after birth. This occurred in 102 fetuses in the whole study population (57%) and in 84 of the 111 in whom CoAo was suspected beyond 28 weeks (75.7%). This multiparameter score allows an adequate discrimination between fetuses without CoAo and those with CoAo, reducing the false positive diagnoses in cardiac asymmetry.

Severe Acute Respiratory Syndrome Coronavirus 2 Vertical Transmission from an Asymptomatic Mother.

In utero transmission of severe acute respiratory syndrome coronavirus 2 infection is a point of debate. We report a case of severe acute respiratory syndrome coronavirus 2 vertical transmission from asymptomatic mother, with molecular detection in mother's blood at delivery and neonatal nasopharyngeal swabs at 5 and 28 hours of life and later IgG seroconversion. The newborn was asymptomatic.

Prevention and treatment of fetal cytomegalovirus infection with cytomegalovirus hyperimmune globulin: a multicenter study in Madrid.

INTRODUCTION: Cytomegalovirus (CMV) is the leading cause of congenital infection worldwide. Data about the management of CMV infection in pregnant women are scarce, and treatment options are very limited. The aim of the study is to investigate the effectiveness of cytomegalovirus hyperimmune globulin (CMV-HIG) for the prevention and treatment of congenital CMV (cCMV) infection. MATERIALS AND METHODS: A retrospective observational study was conducted in three tertiary hospitals in Madrid. In the period 2009-2015, CMV-HIG (Cytotect® CP Biotest, Biotest) treatment was offered to all pregnant women with primary CMV infection and/or detection of CMV-DNA in amniotic fluid in participating centers. Women were divided into prevention and treatment groups (PG and TG, respectively). Those with primary CMV infection who had not undergone amniocentesis comprised the PG and received monthly CMV-HIG (100 UI/kg). If CMV-DNA was subsequently detected in amniotic fluid, one extra dose of CMV-HIG (200 UI/kg) was given 4 weeks after the last dose. Those women were considered to be part of the PG group despite detection of CMV-DNA in amniotic fluid. In the case of a negative result in CMV-DNA detection in amniotic fluid or if amniocentesis was not performed, monthly HIG was given up to the end of the pregnancy. RESULTS: Thirty-six pregnant women were included. Median gestational age at birth was 39 weeks (interquartile range: 38-40) and two children (5.5%) were premature (born at 28 and 34 weeks' gestation). Amniocentesis was performed in 30/36 (83.4%) pregnancies and CMV PCR was positive in 21 of them (70%). One fetus with a positive PCR in amniotic fluid that received one dose of HIG after amniocentesis presented a negative CMV-PCR in urine at birth, and was asymptomatic at 12 months of age. Twenty-four children were infected at birth, and 16/21 (76.2%) presented no sequelae at 12 months, while two (9.5%) had a mild unilateral hearing loss and three (14.3%) severe hearing loss or neurological sequelae. Seventeen women were included in the PG and 19 in the TG. In the PG 7/17 (41%) fetuses were infected, one pregnancy was terminated due to abnormalities in cordocentesis and one showed a mild hearing loss at 12 months of age. In the TG, 18/19 children (95%) were diagnosed with cCMV, while the remaining neonate had negative urine CMV at birth. Eight out of the 19 fetuses (42.1%) showed CMV related abnormalities in the fetal US before HIG treatment. Complete clinical assessment in the neonatal period and at 12 months of age was available in 16 and 15 children, respectively. At birth 50% were symptomatic and at 12 months of age, 4/15 (26.7%) showed a hearing loss and 3/15 (20%) neurologic impairment. Fetuses with abnormalities in ultrasonography before HIG presented a high risk of sequelae (odds ratios: 60; 95%CI: 3-1185; p = .007). DISCUSSION: Prophylactic HIG administration in pregnant women after CMV primary infection seems not to reduce significantly the rate of congenital infection, but is safe and it could have a favorable effect on the symptoms and sequelae of infected fetuses. The risk of long-term sequelae in fetuses without US abnormalities before HIG is low, so it could be an option in infected fetuses with normal imaging. On the other hand, the risk of sequelae among infected fetuses with abnormalities in fetal ultrasonography before HIG despite treatment is high.

Situación actual de la preeclampsia / No disponible

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Update on the diagnosis and prognosis of pre-eclampsia in singleton pregnancies based on the sFlt-1/PlGF ratio / Actualización del diagnóstico y el pronóstico de la preeclampsia en embarazos únicos con la ayuda del cociente sFlt-1/PlGF

Pre-eclampsia belongs to a group of obstetric complications that are closely related through placental insufficiency, which also includes intrauterine growth restriction and placental abruption. Timely and accurate detection and treatment of pre-eclampsia is usually difficult, since diagnostic criteria are still based on nonspecific signs and symptoms and there is no clear association between the usual criteria for severity and unfavorable outcomes for mother and fetus. The discovery of the role of angiogenic factors (sFlt-1 y PlGF) in the pathophysiology of placental insufficiency is a key step toward improving early diagnosis and establishing a prognosis in cases occurring before week 34 of pregnancy. At present, ≤ 38 is widely accepted to be threshold value of the sFlt-1/PlGF ratio that rules out suspected pre-eclampsia. The use of the ratio is considered cost-effective. However, current data on the treatment and prognosis of women with an abnormally high sFlt1/PlGF ratio are more limited. The present article summarizes current knowledge on the clinical application of the sFlt-1/PlGF for the diagnosis and prognosis of pre-eclampsia and highlights those areas that should be addressed with respect to biomarkers, for example, their role as targets in the development and follow-up of new treatments

La preeclampsia pertenece a un grupo de complicaciones obstétricas estrechamente relacionadas entre ellas por la existencia de una insuficiencia placentaria, que incluye también la restricción del crecimiento intrauterino y el desprendimiento placentario. El reconocimiento y tratamiento oportuno y preciso de la preeclampsia suele ser difícil, ya que los criterios diagnósticos aún se basan en signos y síntomas inespecíficos y no existe una relación clara entre los criterios habituales de gravedad y los resultados desfavorables para la madre o el feto. El descubrimiento del papel que juegan los factores relacionados con la angiogénesis (sFlt-1 y PlGF) en la fisiopatología subyacente de la insuficiencia placentaria ha constituido un paso importante a la hora de mejorar el diagnóstico precoz y establecer un pronóstico en los casos que se presentan antes de la semana 34 de gestación. En la actualidad está ampliamente aceptado que el valor límite del cociente sFlt-1/PlGF que permite excluir la existencia de preeclampsia en pacientes en las que se sospecha esta enfermedad es de 38 o menos, y que el uso de este cociente resulta costo-eficiente. Sin embargo, los datos disponibles relativos al tratamiento y al pronóstico de las mujeres con niveles anormalmente altos del cociente sFlt1/PlGF son más limitados. Este artículo resume los conocimientos actuales relativos a la aplicación clínica del cociente sFlt-1/PlGF para diagnosticar y pronosticar el curso de la preeclampsia, y señala las próximas tareas que serán necesarias abordar en relación con estos biomarcadores, como por ejemplo el papel que pueden jugar como dianas para el desarrollo y el seguimiento de nuevos tratamientos

Encuesta SEGO. Predicción, diagnóstico y tratamiento de la preeclampsia en los hospitales españoles / SEGO survey. Prediction, diagnosis, and treatment of pre-eclampsia in Spanish hospitals

Objetivos: la preeclampsia es causa importante de morbilidad y mortalidad materna y perinatal. La identificación de gestantes con riesgo de preeclampsia, el correcto diagnóstico y la adecuada evaluación del pronóstico son fundamentales para la elección de la actitud clínica más adecuada en cada caso y lograr evitar así las complicaciones asociadas y la mortalidad por preeclampsia. En este sentido, en los últimos años se han desarrollado y estudiado numerosos biomarcadores que, bien por sí mismos o en combinación con otros parámetros, muestran resultados prometedores en la predicción y diagnóstico de preeclampsia, y cuya incorporación a la práctica clínica habitual supondrá un avance en el manejo clínico de las gestantes con preeclampsia. Material y métodos: desde la Sociedad Española de Ginecología y Obstetricia se envió vía internet una encuesta con 25 preguntas (3 de ellas casos clínicos) a 2.699 miembros de la secciones de Medicina Perinatal y Ecografía con el objetivo de revisar el estado actual de la predicción, diagnóstico y manejo clínico de la preeclampsia en nuestro país. Resultados: a la encuesta respondieron 476 profesionales (17,63%) y de sus respuestas se concluye que la práctica clínica entre los profesionales de los hospitales españoles se ajusta en la mayoría de los aspectos evaluados a las recomendaciones actuales y al estado del conocimiento. Cabe destacar la baja utilización de biomarcadores en el primer trimestre para identificar gestantes con riesgo de preeclampsia e indicar profilaxis así como en el segundo y tercer trimestre para establecer el pronóstico y optimizar la actitud terapéutica

Objectives: Pre-eclampsia is a leading cause of maternal and perinatal morbidity and mortality. The correct diagnosis, prognosis, and identification of patients at high risk of pre-eclampsia are crucial for the optimal treatment and prevention of pre-eclampsia-associated complications and mortality. A large variety of prognostic and diagnostic biomarkers have been studied in the recent years either alone or in combination with other parameters, with promising results. The routine use of these biomarkers in clinical practice would help optimize the clinical approach to pre-eclampsia. Material and methods: The Spanish Society of Gynecology and Obstetrics forwarded an online 25-item questionnaire (of which 3 were clinical cases) to 2.699 members of the departments of perinatal medicine and ultrasound with the aim of revising how pre-eclampsia is predicted, diagnosed, and treated in Spain. Results: A total of 476 questionnaires (17.63%) were returned. The conclusion was that most aspects addressed in the questionnaire were approached in hospitals in Spain in accordance with official guidelines and the current state of knowledge. Of note is the rare use of biomarkers either during the first trimester of gestation in patients at risk of pre-eclampsia for the indication of prophylaxis, or during the second and third trimester for the prognosis and selection of the best therapeutic option

Hipertensión arterial pulmonar y cirugía de switcharterial neonatal para la corrección de la transposición de grandes arterias / Pulmonary arterial hypertension and neonatal arterial switch surgery for correction of transposition of the great arteries

Introducción y objetivos: Son escasas las publicaciones sobre aparición de hipertensión arterial pulmonar tras la cirugía de switch arterial en periodo neonatal para la corrección de la transposición de grandes arterias. Se evalúa la frecuencia y el comportamiento clínico de esta complicación en una serie de pacientes. Métodos: Se revisó la base de datos y se seleccionó a pacientes con transposición de grandes vasos corregida con switch arterial neonatal en el centro en los que con el tiempo apareció hipertensión pulmonar. Resultados: Se halló a 2 pacientes (1,3%) con transposición de grandes arterias corregida con éxito en la primera semana de vida que luego presentaron hipertensión arterial pulmonar. El primero es una niña de 7 años con diagnóstico de hipertensión pulmonar grave a los 8 meses de edad, sin respuesta a tratamiento médico, que precisó trasplante pulmonar. La anatomía patológica mostró hallazgos compatibles con hipertensión arterial pulmonar grave. El segundo es un niño de 24 meses con diagnóstico de hipertensión pulmonar grave a los 13 meses, sin respuesta al tratamiento médico. Conclusiones: La hipertensión arterial pulmonar es una complicación infrecuente pero muy grave cuya aparición se debe investigar en todo paciente con transposición de grandes vasos sometido a operación de switch arterial neonatal con el fin de instaurar un tratamiento agresivo temprano para los pacientes afectados, dados la escasa respuesta al tratamiento y el mal pronóstico que supone (AU)

Introduction and objectives: There are few reports of the appearance of pulmonary arterial hypertension following arterial switch surgery in the neonatal period to correct transposition of the great arteries. We assessed the frequency and clinical pattern of this complication in our series of patients. Methods: Our database was reviewed to select patients with transposition of the great arteries corrected by neonatal arterial switch at our hospital and who developed pulmonary hypertension over time. Results: We identified 2 (1.3%) patients with transposition of the great arteries successfully repaired in the first week of life who later experienced pulmonary arterial hypertension. The first patient was a 7-year-old girl diagnosed with severe pulmonary hypertension at age 8 months who did not respond to medical treatment and required lung transplantation. The anatomic pathology findings were consistent with severe pulmonary arterial hypertension. The second patient was a 24-month-old boy diagnosed with severe pulmonary hypertension at age 13 months who did not respond to medical therapy. Conclusions: Pulmonary hypertension is a rare but very severe complication that should be investigated in all patients with transposition of the great arteries who have undergone neonatal arterial switch, in order to start early aggressive therapy for affected patients, given the poor therapeutic response and poor prognosis involved (AU)

Estenosis aórtica crítica y síndrome de corazón izquierdo hipoplásico de diagnóstico precoz en un hospital de segundo nivel / Critical aortic stenosis and hypoplastic left heart syndrome of early diagnosis in a second-level hospital

Las cardiopatías son las malformaciones congénitas más frecuentes del desarrollo prenatal, en las que se produce un defecto en la arquitectura normal del corazón fetal interfiriendo en su buen funcionamiento en la vida postnatal. La proporción entre las diferentes cardiopatías varía mucho, sin embargo el Síndrome de Corazón Izquierdo Hipoplásico representa el 2-3% del total de cardiopatías congénitas constituyendo la forma más severa de lesiones obstructivas del corazón izquierdo y la de peor pronóstico. Su diagnóstico en etapas precoces de la gestación es hoy un reto para el obstetra, ya que su carácter evolutivo dificulta este hecho, no siendo en ocasiones, hasta etapas avanzadas de la gestación cuando se produce la alteración anatómica y la subsiguiente expresión ecográfica. Es en este punto donde se debe hacer hincapié, intentando aumentar el número de casos detectados precozmente, lo cual permitiría un adecuado aseso-ramiento familiar y la toma de decisiones oportuna. En los últimos años la introducción de terapias en patología cardíaca fetal, ha despertado un gran interés por tratar de modificar la evolución de esta enfermedad, siendo la valvuloplastía con balón aórtico la técnica de elección en pacientes seleccionados.

Congenital heart defects are the most frecuently congenital malformations in the prenatal development and consist of defect in the normal architecture of the fetal heart which interfering with its proper functioning. The proportion between the different heart disease varies widely, however Hypoplastic Left Heart Syndrome (HLHS) represent 2-3% of all congenital heart diseases and constitute the most severe obstructive lesions of the left heart and worse prognosis. The quickly diagnosis in early stages of the disease is an obstetrician challenge, however, it s evolutional feature hinders this proposal even in advanced stages of pregnancy when the anatomical alteration and subsequent ultrasound expression can be occur. At this point that should be emphasized to try increasing the number of cases detected early, which would allow a proper family counseling and timely decision. Recent years the introduction of therapies on fetal cardiac pathology, has aroused great interest in trying to change the course of the disease and the fetal aortic valvuloplasty with aortic balloon would be the choice technique in selected patients.

Pulmonary Arterial Hypertension and Neonatal Arterial Switch Surgery for Correction of Transposition of the Great Arteries.

INTRODUCTION AND OBJECTIVES: There are few reports of the appearance of pulmonary arterial hypertension following arterial switch surgery in the neonatal period to correct transposition of the great arteries. We assessed the frequency and clinical pattern of this complication in our series of patients. METHODS: Our database was reviewed to select patients with transposition of the great arteries corrected by neonatal arterial switch at our hospital and who developed pulmonary hypertension over time. RESULTS: We identified 2 (1.3%) patients with transposition of the great arteries successfully repaired in the first week of life who later experienced pulmonary arterial hypertension. The first patient was a 7-year-old girl diagnosed with severe pulmonary hypertension at age 8 months who did not respond to medical treatment and required lung transplantation. The anatomic pathology findings were consistent with severe pulmonary arterial hypertension. The second patient was a 24-month-old boy diagnosed with severe pulmonary hypertension at age 13 months who did not respond to medical therapy. CONCLUSIONS: Pulmonary hypertension is a rare but very severe complication that should be investigated in all patients with transposition of the great arteries who have undergone neonatal arterial switch, in order to start early aggressive therapy for affected patients, given the poor therapeutic response and poor prognosis involved.

Cardiopatías congénitas y cromosomopatías en vida fetal: ¿siempre cariotipo? / Congenital heart defects and chromosomal anomalies in fetal life: should a chromosomal study always be offered?

Objetivos: Analizar la relación entre las cardiopatías congénitas (CC) y las cromosomopatías en vida fetal. Método: Estudio retrospectivo realizado en un centro terciario de referencia. Seleccionamos las CC diagnosticadas prenatalmente entre 1990 y 2011, con verificación posnatal del diagnóstico y con información disponible del cariotipo. La recomendación de realizar técnica invasiva prenatal para estudio del cariotipo dependió del tipo de CC y de la existencia de otros factores de riesgo de cromosomopatía. Resultados: Se analizaron 1.384 CC. El cariotipo se estudió prenatalmente en 848 (61,3%) y en el resto o se estudió posnatalmente (172; 12,4%) o se excluyó clínicamente la presencia de cromosomopatía por la ausencia de marcadores clínicos indicativos de aquella (364; 26,3%). Existía una cromosomopatía en 363 CC (26,2%). El diagnóstico fue prenatal en 324 (89,3%) y posnatal en 39 (10,7%). En estos casos no se realizó el estudio prenatal del cariotipo principalmente por la negativa de los padres (n = 28). La CC que mostró mayor asociación con cromosomopatías fue el canal aurículo-ventricular (66,7%). Esta asociación fue nula en algunas CC como la transposición de grandes arterias o el ventrículo único. Lo mismo sucedió en la atresia tricúspide aislada y en los síndromes de heterotaxia sin anomalías ajenas a las que forman parte del síndrome. Conclusiones: Aun siendo enormemente relevante la información del cariotipo en los fetos con CC para la toma de decisiones de los padres y el pronóstico del paciente, la recomendación de dicho estudio ha de individualizarse según las características de cada caso, pudiendo evitarse los riesgos de la técnica invasiva diagnóstica en muchos casos(AU)

Objectives: To assess the relationship between congenital heart defects (CHD) and chromosomal abnormalities in fetal life. Methods: This is a retrospective study undertaken at a tertiary care referral center. Our database was queried for cases of CHD prenatally diagnosed between 1990 and 2011, with postnatal diagnostic verification, as well as information available as regards the karyotype. The recommendation for performing fetal invasive procedures relied upon the type of CHD and the presence of associated high-risk factors of chromosomal disease. Results: A total of 1,384 CHD were retrieved and analyzed. The karyotype was studied prenatally in 848 (61.3%) and in the rest was either studied postnatally (172, 12.4%) or the presence of chromosomal disease was clinically ruled out given the absence of suggestive clinical markers (364, 26.3%). Chromosomal defects were diagnosed in 363 CHD (26.2%). The diagnosis was made prenatally in 324 (89.3%), and after birth in 39 (10.7%). In most of these cases (n = 28) the parents refused fetal invasive testing. We found that atrioventricular septal defect was the CHD most associated with chromosomal abnormalities (66.7%). On the contrary, we did not observe any chromosomal defect in CHD, such as transposition of large arteries or single ventricle. Similarly, there was no abnormal karyotype in isolated tricuspid atresia or in heterotaxy syndromes presenting without anomalies other than those typically included in the disease. Conclusions: Karyotype analysis is highly relevant in fetuses with CHD, given its impact in the parental decision-making process and patient outcome. Nevertheless, the recommendation of performing fetal invasive testing should be based on the individual characteristics of any given case, and in many cases the risks associated with the invasive procedure could be avoidable(AU)

[Prenatal diagnosis of isolated otocefalia. Usefulness of three-dimensional ultrasound]. / Diagnóstico prenatal de otocefalia aislada. Utilidad de la ecografía tridimensional.

Otocephaly is a rare and lethal congenital malformation characterized by the presence of agnathia, microstomia, aglossia and synotia. Despite its frequent association with severe malformations, diagnosis in the few published cases is usually made at III trimester. In this case, three-dimensional ultrasound scan was performed in a Chinese primigravida with no remarkable personal nor familiar history since mandible was difficulty visualized with two-dimensional sonography at 21 weeks of gestation. Multiplanar and rendering mode showed the typical cervicofacial features of otocephaly without associated malformations. After parental counselling, they opted for termination of pregnancy and necropsy confirmed our prenatal findings. Our case shows the usefulness of three-dimensional ultrasound in assessing fetal cervicofacial pathology. Volumetric capture allows a delayed study of fetal anatomy and multiplanar mode offers the reconstruction of views whose achivement is difficult with conventional 2D ultrasound. Surface rendering provides excellent spatial vision and enables parents to understand the severity of the malformation thus helping with their decisions.

Doppler de arterias uterinas y marcadores angiogénicos (sFlt-1/PlGF): futuras implicaciones para la predicción y el diagnóstico de la preeclampsia / Uterine arteries Doppler and angiogenic markers (sFlt-1/PlGF): future implications

La preeclampsia continúa siendo una de las principales causas de morbilidad y mortalidad materna y perinatal. A pesar de su repercusión, hasta ahora no ha habido métodos adecuados para detectarla de forma temprana y prevenir complicaciones. Las estrategias de selección basadas en la presencia de factores de riesgo maternos no resultan eficientes. El empleo del Doppler de arterias uterinas no se ha conseguido imponer en la práctica habitual, pero en combinación con los nuevos marcadores angiogénicos sFlt-1 y PlGF se convierte en una herramienta con gran potencial para la predicción y el diagnóstico temprano de la preeclampsia. En este artículo se discutirá la oportunidad de trasladar a la clínica diaria el estudio Doppler de arterias uterinas y los marcadores angiogénicos sFlt-1 y PlGF en función de los datos conocidos a través los estudios realizados recientemente(AU)

Pre-eclampsia remains a principal cause of maternal and perinatal morbidity and mortality. Despite its repercussions, so far there have been no methods for early diagnosis and prevention of complications. Selection strategies based on the presence of maternal risk factors are not efficient. The use of uterine artery Doppler has not been accepted in routine practice, but in combination with new angiogenic markers sFlt-1 and PlGF it becomes a very powerful tool for the prediction and early diagnosis of pre-eclampsia. This article will discuss the challenge of transferring the study of uterine artery Doppler and angiogenic markers sFlt-1 and PlGF to daily clinical practice in the light of the available data from recent studies(AU)