Secuencia anemia-policitemia en la gestación monocorial. Manejo prenatal y resultados perinatales / Twin anaemia polycythemia polycythemia sequence in monochorionic gestation. Prenatal management and perinatal outcomes

Introducción: El objetivo de este trabajo consiste en describir y analizar los resultados perinatales de una serie de casos de anemia-policitemia (TAPS) seguidos y tratados en un centro de referencia en Medicina Fetal, en términos del tipo TAPS y la conducta prenatal aplicada. Métodos: Análisis estadístico descriptivo e inferencial con el programa IBM SPSS Statistics. Resultados: Se diagnosticaron 13 casos de TAPS en un total de 510 gestaciones monocoriales. La mayoría de TAPS espontáneos se diagnosticaron en estadios precoces (5 casos), mientras que, en TAPS posláser, 3/6 casos se diagnosticaron en estadios avanzados. Cuatro fetos (4/26; 15,4%) presentaron alteraciones en la neurosonografía, 3 (3/14; 21,4%) en TAPS espontáneos y uno (1/12, 8,3%) en TAPS posláser (p = 0,308). Se detectó hipertrofia miocárdica en 7 fetos, 5 (71,4%) de los cuales correspondían a TAPS en estadios avanzados. Cuatro eran TAPS espontáneos (4/14; 28,6%) y 3 TAPS posláser (3/12; 25%) (p = 0,797). Ocho casos (8/13; 62,5%) precisaron algún procedimiento de terapia fetal. Se produjeron 3 muertes fetales anteparto y una pareja decidió interrupción legal del embarazo (19,23%). Las 5 pérdidas se produjeron en estadio IV (p=0,008).La supervivencia global fue del 80,8% (21/26 recién nacidos vivos). No hubo diferencias significativas en función del tipo TAPS (p = 0,159) y la conducta prenatal adoptada (p = 0,746). Conclusiones: El TAPS espontáneo es, por tanto, una entidad clínica con un impacto en los resultados perinatales similar al posláser. Parece que la conducta expectante y el láser consiguen mayor edad gestacional al nacimiento.(AU)

Introduction: The aim of this paper is to describe and analyze the perinatal outcomes of a series of TAPS cases followed and treated in a Fetal Medicine referral center, in terms of the type of TAPS and the prenatal behavior applied. Methods: Descriptive and inferential statistical analysis with IBM SPSS Statistics software. Results: Thirteen cases of TAPS were diagnosed in a total of 510 monocorial gestations. Most of the spontaneous TAPS were diagnosed at early stages (5 cases), whereas, in post-laser TAPS, 3/6 cases were diagnosed at advanced stages. Four fetuses (4/26; 15.4%) presented alterations in neurosonography, 3 (3/14; 21.4%) in spontaneous TAPS and one (1/12, 8.3%) in post-laser TAPS (P=0.308). Myocardial hypertrophy was detected in 7 fetuses, 5 (71.4%) of which corresponded to advanced stage TAPS. Four were spontaneous TAPS (4/14; 28.6%) and 3 were post-laser TAPS (3/12; 25%) (P=0.797). Eight cases (8/13; 62.5%) required some fetal therapy procedure. There were 3 antepartum fetal deaths and one couple decided to legally terminate the pregnancy (19.23%). All 5 losses were stage IV (P=0.008). Overall survival was 80.8% (21/26 live newborns). There were no significant differences according to the type of TAPS (P= 0.159) and the prenatal behavior adopted (P=0.746).Conclusions: Spontaneous TAPS is therefore a clinical entity with an impact on perinatal outcomes similar to post-laser. It seems that expectant management and laser achieve higher gestational age at birth.(AU)

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)

Maternal mortality in Spain and its association with country of origin: cross-sectional study during the period 1999-2015.

BACKGROUND: The available literature suggests that there are significant differences in maternal mortality according to maternal origin in high income countries. The objective of this study was to quantify the risk of maternal death by maternal origin and region of Spain where the birth occurred and to identify the most important causes of maternal death in our country. METHODS: An ecological cross-sectional study was conducted that included all deliveries that resulted in maternal survival and cases of maternal death during 1999-2015 in Spain. A descriptive analysis of the maternal mortality rate by maternal origin, region and year of birth was performed. The risk of maternal death was calculated using univariate and multivariate logistic regression analysis, with adjustment for the variables included in the descriptive analysis. RESULTS: There were 272 maternal deaths during this period, most of which were due to haemorrhage (63 cases, 23.16%).Women whose continent of origin was South America had the highest adjusted risk of maternal death, with an OR of 3.92 (95% CI 2.75-5.58). The region of Spain with the highest risk of maternal death was Ceuta, with an OR of 12.11 (95% CI 2.02-72.68). CONCLUSIONS: This study shows that there are inequalities in maternal mortality according to maternal origin and region where labour occurred. These findings highlight the need to establish strategies at the national and European levels to analyse the most relevant causes and risk factors associated with maternal mortality in order to reduce it and pay closer attention in identifying and carefully managing pregnant women from this at risk groups.