Estudio de hiperecogenicidad renal: del fenotipo al genotipo en la mutación del gen del factor nuclear hepático1Beta / A renal hyperechogenicity study: from the phenotype to the genotype in the mutation of hepatocyte nuclear factor-1 beta gene

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Cervical Pessary Compared With Vaginal Progesterone for Preventing Early Preterm Birth: A Randomized Controlled Trial.

OBJECTIVE: To compare the effectiveness of a cervical pessary and vaginal progesterone to prevent spontaneous preterm births in pregnant women with cervical lengths 25 mm or less as measured by transvaginal ultrasonography. METHODS: This was a multicenter, open-label, randomized, noninferiority trial. Women with singleton pregnancies and a short cervix (25 mm or less) measured transvaginally at the second-trimester ultrasonogram were invited to participate. They were computer-randomized (one to one) into cervical pessary placement or treatment with vaginal progesterone (200 mg/24 hours). The primary outcome was spontaneous preterm delivery before 34 weeks of gestation. The noninferiority margin was set at 4% with a 0.025 one-sided α level and a statistical power of 80%. That is, if the 95% CI upper bound exceeded 4%, the pessary could not be deemed noninferior. A sample size of 254 women was required to show noninferiority of the pessary to progesterone. RESULTS: The trial was conducted from August 2012 to April 2016 with the participation of 27 Spanish hospitals. A total of 254 patients were enrolled and 246 included in the intention-to-treat analysis. Demographic and baseline characteristics were similar across groups. The rate of spontaneous delivery before 34 weeks of gestation was 14% (n=18/127) in the pessary group and 14% (n=17/119) in the progesterone group with a risk difference of -0.11% (95% CI -8.85% to 8.62%; P=.99), that is, noninferiority was not shown for the pessary. The incidence of increased vaginal discharge (87% vs 71%, P=.002) and discomfort (27% vs 3%, P<.001) was significantly higher in the pessary group. CONCLUSION: A cervical pessary was not noninferior to vaginal progesterone for preventing spontaneous birth before 34 weeks of gestation in pregnant women with short cervixes. CLINICAL TRIAL REGISTRATION: EU Clinical Trials Register, 2012-000241-13; ClinicalTrials.gov, NCT01643980.

Prenatal diagnosis of concurrent achondroplasia and klinefelter syndrome.

Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality.

Marcadores bioquímicos de cromosomopatía, pregnancy associated plasma proteína-A y fracción Beta de hormona gonadotropina coriónica humana, como predictores de alteraciones del crecimiento fetal / Biochemical markers of chromosomal diseases; pregnancy associated plasma protein-A and Beta-human chorionic gonadotropin as predictors of foetal growth anomalies

Objetivo. El principal objetivo de nuestro estudio es analizar la posible relación entre marcadores de cromosopatía del primer trimestre, proteína plasmática asociada al embarazo A (PAPP-A) y fracción Beta de la hormona gonadotropina coriónica y bajo peso al nacer. Métodos. Se realizó un estudio de cohortes retrospectivo incluyendo a pacientes que participaron en el cribado combinado para cromosomopatías realizado en el primer trimestre. Se calcularon para cada variable principal los percentiles 1 y 5 de nuestra población. Se utilizó la prueba de independencia de la chi al cuadrado para valorar la relación entre las diferentes variables. Resultados. Se incluyó en el estudio a 987 pacientes. Se registraron 3 muertes fetales anteparto (0,3%) y 10 abortos tardíos (1%). De los 974 RN vivos, 84 presentaron un peso < percentil (p) 10 (8,5%) y 21 (2,1%) un peso < p3. Se encontró una relación estadísticamente significativa entre bajos niveles séricos maternos de PAPP-A y bajo peso al nacer. Conclusión. Los datos de nuestro estudio demuestran que los marcadores bioquímicos del cribado para cromosomopatía también predicen bajo peso al nacer, pudiendo aplicarse en la práctica clínica en la detección precoz y manejo de esta afección (AU)

Objective. The principal aim of this study was to analyze the possible association between prenatal biochemical markers used in prenatal screening for aneuploidy, (pregnancy associated plasma protein A [PAPP-A] and beta-human chorionic gonadotropin) and low birth weight. Methods. We performed a retrospective cohort study of patients who underwent first trimester screening for aneuploidies. The first and fifth percentiles in our population were calculated for each main variable. We used the chi-square test to assess the relationship between the distinct variables. Results. A total of 987 patients were included. There were three stillbirths (0.3%) and 10 midtrimester miscarriages (1%). Of 974 live births, body weight was under the 10th percentile (p) in 84 (8.5%) and was under the third percentile in 21 (2.1%). There was a statistically significant association between low maternal serum PAPP-A and low birth weight. Conclusion. Our results demonstrate that the biochemical markers used in prenatal screening for aneuploidy also predict low birth weight and can be used in clinical practice to provide an early diagnosis and improve the management of this entity (AU)

Schwannoma en espina dorsal en gestante de 24 semanas / Spinal cord schwannoma in a 24-week pregnant woman

El schwanoma en la espina dorsal es una entidad poco frecuente cuyo principal problema es la sintomatología causada por el aumento de tamaño y su consecuente compresión medular. Una peculiaridad de esta neoplasia benigna es la presencia de receptores para estrógenos y progesterona en las células de Schwann, que se ha relacionado con un mayor crecimiento de estos tumores en pacientes gestantes(AU)

Schwannoma of the spine is a rare entity. The main problem caused by this tumor are the symptoms provoked by its increasing size and the consequent spinal cord compression. A peculiarity of this benign neoplasm is the presence of estrogen and progesterone receptors in Schwann cells, which has been linked to greater growth of these tumors in pregnant patients(AU)