Turner syndrome patients' ultrasound profile.

OBJECTIVE: Evaluate the uterus and ovary by ultrasonography, considering the genotype, pubertal development and hormonal levels. MATERIALS AND METHODS: Cross-sectional study of 53 (7-53 years old) patients with Turner syndrome considering pubertal development by Tanner stage, puberty induced or not and the ultrasound examination. RESULTS: The patients were 10 prepubertal and 43 with pubertal signs. Uterus was found adequate in 12 (57.1%) patients and all had spontaneous puberty. Hypoplasic uterus was found in all prepubertal patients and in 28 (52.8%) patients pubescent. The ovaries were visualized bilaterally in 32 (60%) patients and unilaterally in 15 (27.7%). Ovaries were appropriate bilaterally in eight (15.1%). In pubertal patients, the average volume being significantly higher in those with spontaneous puberty (p = 0.04 and 0.03, respectively). We found no significant difference in uterine volume, when considered estrogen route and karyotype. CONCLUSION: The ultrasonographic pattern in patients with spontaneous puberty without secondary failure was appropriate. The karyotype and the route estrogen therapy were not related to the standard of ultrasound study of the uterus and ovary.

Altered Umbilical Cord Blood Nutrient Levels, Placental Cell Turnover and Transporter Expression in Human Term Pregnancies Conceived by Intracytoplasmic Sperm Injection (ICSI).

Assisted reproductive technologies (ART) may increase risk for abnormal placental development, preterm delivery and low birthweight. We investigated placental morphology, transporter expression and paired maternal/umbilical fasting blood nutrient levels in human term pregnancies conceived naturally (n = 10) or by intracytoplasmic sperm injection (ICSI; n = 11). Maternal and umbilical vein blood from singleton term (>37 weeks) C-section pregnancies were assessed for levels of free amino acids, glucose, free fatty acids (FFA), cholesterol, high density lipoprotein (HDL), low density lipoprotein (LDL), very low-density lipoprotein (VLDL) and triglycerides. We quantified placental expression of GLUT1 (glucose), SNAT2 (amino acids), P-glycoprotein (P-gp) and breast cancer resistance protein (BCRP) (drug) transporters, and placental morphology and pathology. Following ICSI, placental SNAT2 protein expression was downregulated and umbilical cord blood levels of citrulline were increased, while FFA levels were decreased at term (p < 0.05). Placental proliferation and apoptotic rates were increased in ICSI placentae (p < 0.05). No changes in maternal blood nutrient levels, placental GLUT1, P-gp and BCRP expression, or placental histopathology were observed. In term pregnancies, ICSI impairs placental SNAT2 transporter expression and cell turnover, and alters umbilical vein levels of specific nutrients without changing placental morphology. These may represent mechanisms through which ICSI impacts pregnancy outcomes and programs disease risk trajectories in offspring across the life course.

Micro-Surgical Treatment of Fetal Myelomeningocele / Tratamento microcirúrgico da mielomeningocele fetal

Introduction Myelomeningocele (MMC) is the most common malformation of the central nervous system compatible with life. We will report the results obtained with the prenatal closure of MMC at the Instituto Estadual do Cérebro Paulo Niemeyer (IECPN). Objectives Clinical outcome of fetuses undergoing intrauterine MMC repair by the Peralta mini-hysterotomy. Monitor the reduction of Arnold-Chiari II secondary to MMC, reduction of hydrocephalus and also motor development in these children. Methods Descriptive study of 26 cases with intrauterine MMC repair by mini-hysterotomy, or Peralta technique, performed at the IECPN from December 2017 to February 2020. Results Between December 2017 and February 2020, 26 pregnant women with children with MMC were operated on using Peralta technique. Fetuses were born at an average gestational age of 34.2 weeks and 8% were born before 30 weeks of gestation. The average birth weight was 2096g. It was possible to observe a significant reduction in the occurrence of Arnold-Chiari II in these patients, as well as an evident improvement in motor function in the neurological examination of these babies at the end of the first month of life, where 20 of 23 babies had active movement in the lower limbs. Discussion This study demonstrates the correction of fetal MMC through a mini-hysterotomy of 2.5 to 3.5 cm, developed in order to reduce maternal and fetal mortality. This mini-hysterotomy technique is not a minimally invasive procedure, as it is based on open surgery for the treatment of fetal MMC, as recommended by the Management of Myelomeningocele Study (MOMS).

Introdução Mielomeningocele (MMC) é a malformação mais comum do sistema nervoso central compatível com a vida. Nós relataremos os resultados obtidos com o fechamento pré-natal da MMC no Instituto Estadual do Cérebro Paulo Niemeyer (IECPN). Objetivos Desfecho clínico dos fetos submetidos a correção intrauterina de MMC por mini-histerotomia de Peralta. Monitorar a redução de Arnold-Chiari II secundária à MMC, redução da hidrocefalia e também o desenvolvimento motor nessas crianças. Métodos Estudo descritivo de 26 casos com correção intrauterina de MMC por mini-histerotomia ou técnica de Peralta realizadas no IECPN no período entre dezembro de 2017 a fevereiro de 2020. Resultados Entre dezembro de 2017 a fevereiro de 2020, 26 gestantes com filhos portadores de MMC, foram operadas utilizando-se a técnica de Peralta. Os fetos nasceram com uma idade gestacional média de 34,2 semanas e 8% nasceram antes das 30 semanas de gestação. O peso médio ao nascer foi de 2096 gramas. Foi possível observarmos uma significativa redução na ocorrência de Arnold-Chiari II nestes pacientes, bem como uma evidente melhora da função motora no exame neurológico destes bebês ao final do primeiro mês de vida, aonde 20 de 23 bebês apresentavam movimentação ativa nos membros inferiores. Discussão Este estudo demonstra a correção da MMC fetal através de uma mini-histerotomia de 2,5 à 3,5cm, desenvolvida com o intuito de reduzir a mortalidade materna e fetal. Esta técnica de mini-histerotomia não é um procedimento minimamente invasivo, pois é baseada na cirurgia aberta para o tratamento da MMC fetal, como preconiza o estudo Management of Myelomeningocele Study (MOMS).

Virtual three-dimensional placentoscopy: a new approach to assess residual anastomoses following laser photocoagulation in twin-to-twin transfusion syndrome.

Twin-to-twin transfusion syndrome (TTTS) complicates 10% of monochorionic twin pregnancies and it is consequence of an unbalanced exchange blood through the vascular anastomoses at placental surface. If not treated, mortality rates in TTTS may be as high as 80-100%. Laser photocoagulation of the placental anastomoses is the first treatment option; however, in some situations, the damage of the placenta in the postpartum may become difficult the residual anastomoses identification. We propose a new non-invasive technique to assess the residual anastomoses using computed tomography (CT) scan data to generate a three-dimensional (3D) virtual placentoscopy.