Maternal mortality trends in Spain during the 2000-2018 period: the role of maternal origin.

BACKGROUND: The available literature indicates that there are significant differences in maternal mortality according to maternal origin in high income countries. The aim of this study was to examine the trend in the maternal mortality rate and its most common causes in Spain in recent years and to analyse its relationship with maternal origin. METHODS: This was a cross-sectional study of all live births as well as those resulting in maternal death in Spain during the period between 2000 and 2018. A descriptive analysis of the maternal mortality rate by cause, region of birth, maternal age, marital status, human development index and continent of maternal origin was performed. The risk of maternal death was calculated using univariate and multivariate logistic regression analyses, with adjustment for certain variables included in the descriptive analysis. RESULTS: There was a total of 293 maternal deaths and 8,439,324 live births during the study period. The most common cause of maternal death was hypertensive disorders of pregnancy. The average maternal death rate was 3.47 per 100,000 live births. The risk of suffering from this complication was higher for immigrant women from less developed countries. The adjusted effect of maternal HDI score over maternal mortality was OR = 0.976; 95% CI 0.95 - 0.99; p = 0.048; therefore, a decrease of 0.01 in the maternal human development index score significantly increased the risk of this complication by 2.4%. CONCLUSIONS: The results of this study indicate that there are inequalities in maternal mortality according to maternal origin in Spain. The human development index of the country of maternal origin could be a useful tool when estimating the risk of this complication, taking into account the origin of the pregnant woman.

Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.

Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.

Diagnóstico prenatal de Pentalogía de Cantrell / Antenatal diagnosis of Cantrell pentalogy

La pentalogía de Cantrell es una anomalía congénita rara que acontece 1 por 100.000 embarazos; los defectos extensos a nivel de la fusión de la línea media craneofacial, torácica y abdominal caracterizan a este cuadro con una elevada morbimortalidad. Presentamos dos casos de pentalogía de Cantrell diagnosticados en nuestro hospital a las 12 semanas de gestación, ambos en gestaciones únicas, con cariotipo 46XX y uno de ellos con el hallazgo de microdelección de cromosoma 22q11 (AU)

Pentalogy of Cantrell is a rare congenital abnormality reported in 1 per 100,000 pregnancies. Large defects in craniofacial midline fusion, as well as thoracic and abdominal defects, are the main features of this syndrome that entails high morbidity and mortality. We present two cases of pentalogy of Cantrell identified in our hospital at 12 weeks of pregnancy. Both were singleton pregnancies, with 46XX karyotype, and one of them with a microdeletion in chromosome 22q11. We describe the clinical maternal characteristics, as well as the most relevant ultrasonographic findings (AU)

[Perinatal outcome after prenatal diagnosis of intra-abdominal umbilical vein varix]. / Resultados perinatales luego del diagnóstico ecográfico prenatal de variz de la vena umbilical intraabdominal.

BACKGROUND: Increased number of cardiovascular disorders diagnosed prenatally is not a consequence of a spontaneous growing, but of the advance in echographic techniques, specifically, high-resolution echography, color Doppler, a higher knowledge and systematization in exploring fetal anatomy. OBJECTIVE: To describe the sonographic findings and perinatal outcomes in cases with prenatal ultrasound diagnosis of intraabdominal umbilical vein varix (UVV). METHODS: Retrospective study of cases with prenatal ultrasound diagnosis of UVV. The diagnosis is performed at the level of the abdominal circumference when the diameter of the vessel is above the established parameters for a certain gestational age. Variables concerning maternal-fetal features, ultrasound findings and perinatal outcomes of affected cases are described. RESULTS: During the period August 2008 to August 2012 14 cases of intra-abdominal UVV were diagnosed in our center with a mean gestational age at diagnosis of 29 weeks. Of the 14 cases, 35% had associated anomalies, mostly cardiovascular anomalies. No chromosomal defects were detected. Perinatal outcomes in newborns were favorable, with mean gestational age at delivery of 38 weeks. Only one case of monochorionic-monoamniotic twin pregnancy required preterm elective termination secondary to a twin to twin transfusion syndrome. CONCLUSION: Prenatal diagnosis of intra-abdominal UVV should be followed by further studies given its possible association with other anomalies, chromosomal defects and cases of stillbirth. However, isolated cases of UVV, representing a majority, often evolve favorably with few complications.

Malformaciones esqueléticas: diagnóstico ecográfico y resultados perinatales / Skeletal malformations: ultrasound diagnosis and perinatal results

Introducción. la incidencia de las alteraciones del desarrollo de las estructuras osteocartilaginosas fetales es baja. Aunque su diagnóstico ecográfico es sencillo, especialmente en las osteocondrodisplasias letales, llegar a un diagnóstico etiológico es complicado. El objetivo del presente trabajo es presentar los hallazgos ecográficos y resultados perinatales de las malformaciones esqueléticas diagnosticadas en nuestro centro. Material y métodos. estudio descriptivo retrospectivo de serie de casos. Se incluyeron las malformaciones esqueléticas diagnosticadas prenatalmente en la Sección de Medicina Fetal del Hospital General Universitario Gregorio Marañón (noviembre de 2004-febrero de 2010). Los casos se clasificaron en defectos del esqueleto axial o radial, tanto focales aislados como cuadros generalizados de displasias óseas. Se analizaron la edad gestacional al diagnóstico, los defectos congénitos asociados y los resultados perinatales. Resultados. durante el período de estudio se registraron 56 casos. La edad gestacional media al diagnóstico fue de 23,7 semanas (rango 12-37; desviación estándar 7,25). Veintiséis (46,4%) se presentaron como malformación aislada; 14 (25%) asociadas a otras malformaciones, y 16 (28,6%) en el contexto de un síndrome polimalformativo. De los 29 (51,8%) casos en que se realizó estudio citogenético, en 10 (34,5%) se diagnóstico una cromosomopatía. En 40 casos (71,4%) el diagnóstico fue de anomalía focal del esqueleto radial; en 5 (8,9%), de anomalía del esqueleto axial, y en 14 (25%), de osteocondrodisplasia. Sólo en 11 casos se estableció un diagnóstico nosológico. La supervivencia en el período neonatal fue del 61,1% (33/54). Conclusiones. las malformaciones esqueléticas se asocian frecuentemente a otros defectos congénitos, de difícil diagnóstico etiológico y con una alta tasa de resultado perinatal adverso(AU)

Introduction. The incidence of disorders in the development of foetal bone and cartilage structures is low. Although ultrasound diagnosis is easy, especially in lethal skeletal dysplasias, to reach an aetiological diagnosis can be difficult. The aim of this study was to present the ultrasound findings and perinatal outcomes of skeletal malformations diagnosed in our centre. Material and methods. A retrospective descriptive study of case series. Skeletal malformations prenatally diagnosed in the Foetal Medicine Unit at the Gregorio Marañón General University Hospital (HGUGM) Madrid between November 2004 and February 2010 were included. Cases were classified as axial or radial skeletal defects, including isolated defects, as well as generalised skeletal dysplasias. Gestational age at diagnosis, presence of associated congenital defects and perinatal outcome were recorded. Results. A total of 56 cases were included during the study period. The mean gestational age at diagnosis was 23.7 weeks (range 11-36, standard deviation 7.25). Twenty-six (46.4%) occurred as an isolated malformation, 14 (25%) associated to other malformations, and 16 (28.6%) as a multiple malformation syndrome. Among the 29 (51.8%) cases in which a cytogenetic study was performed, 10 (34.5%) had a chromosomal abnormality. The diagnosis was a radial skeletal focal anomaly in 40 cases (71.4%); anomalies of the axial skeleton in 5 (8.9%); and osteochondrodysplasia in 14 (25%). A nosological diagnosis was established in only 11 cases. Neonatal survival was 61.1% (33/54). Conclusions. Skeletal malformations are often associated with other congenital defects. Aetiological diagnosis may be extremely difficult and the rate of adverse perinatal outcomes is high(AU)