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Data about the neurological prognosis of isolated cerebellar hypoplasia in utero are scant and inconsistent. In this monocentric retrospective study, we describe the neurodevelopmental outcomes in a series of children with isolated cerebellar hypoplasia of presumably hemorrhagic origin prenatally detected with fetal magnetic resonance imaging (fMRI). We retrospectively reviewed the charts of all the pregnant women who were referred for a neurological consultation, diagnosed with fetal encephalic malformation/disruption between 2010 and 2020 in the Fetal Therapy Unit of our institution. Fetal MRI (fMRI) was performed in all the pregnancies. Fetuses with cerebellar hypoplasia presumably of hemorrhagic origin were selected for the study. Fetuses exposed to alcohol or with additional malformations in other cerebral or body areas were excluded. All the infants received the postpartum follow-up care adopted in our center, including post-natal MRI, serial neurological examinations, standardized neurodevelopmental tests, and regular parental interviews. Cognitive functions were tested with GRIFFITHS II, WPPSI-III, and WISC-IV according to the child's age. A total of 14 pregnant women out of 479 fetal consultations were eligible and included in the study group. In 57% of cases, the etiology of the hemorrhage was unknown. In 21% of cases, it was attributed to a blood transfusion, while in the remaining ones, it was attributed to maternal predisposing factors. Among the survivors, two infants were excluded for prematurity, and two were lost to follow-up. Ten patients were thus included in the study. Six patients had normal neurodevelopment and cognition, and three presented mild-moderate neurological signs, i.e., mild dyspraxia and visuoperceptual impairment. Only one child had a severe outcome, i.e., autism spectrum disorder. The cerebellum is particularly vulnerable to disruptions throughout its prolonged development. Extreme caution must be used in prenatal counseling considering that in the acute phase, lesion extension and vermis involvement can be overestimated with fMRI. In cases of uncertainty, performing an additional fMRI could be advisable after 4-8 weeks. However, in our series, infants with isolated cerebellar hypoplasia tended to have a favorable prognosis. Nevertheless, a long-term follow-up is needed and should include a postnatal brain MRI, serial neurological examinations, and neurodevelopmental tests at least up to school age.
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Trastorno del Espectro Autista , Lactante , Niño , Humanos , Femenino , Embarazo , Estudios Retrospectivos , Diagnóstico Prenatal/métodos , Cerebelo/diagnóstico por imagen , Cerebelo/anomalías , Imagen por Resonancia Magnética/métodos , HemorragiaRESUMEN
INTRODUCTION: Human cytomegalovirus (HCMV) is the most common congenital infection, especially severe after a maternal primary infection; sequelae in neonates born to mothers experiencing a nonprimary infection have been already reported. Hereby, two cases of severe fetal HCMV disease in seroimmune gravidas referred to our Unit are described. CASES PRESENTATION: Case 1: A fetus at 21 weeks' gestation with signs of anemia and brain abnormalities at ultrasound, described at magnetic resonance (MR) imaging as ependymal irregularity and bilateral asymmetric parenchymal thinning; amniotic fluid sample was positive for HCMV although the woman had a previous immunity; after termination of pregnancy, autopsy demonstrated a thicken layer of disorganized neurons on the right cortical plate, while on the left, there was a morphological pattern coherent with polymicrogyria. Case 2: A fetus at 20 weeks' gestation with anemia, moderate atrioventricular insufficiency, hepatosplenomegaly but no major cerebral lesions. Fetal blood was positive for HCMV, although unexpected for prepregnancy maternal immunity, and intrauterine transfusion was needed. A cesarean section at 34 weeks' gestation was performed due to worsening condition of the fetus, who had a birthweight of 2,210 g and needed platelet transfusions, but MR examination and clinical evaluation were normal. CONCLUSION: The impact of nonprimary maternal infection on pregnancy outcome is unknown and fetal brain damage in HCMV seroimmune transmitter-mothers can occur as a consequence of maternal reinfection or reactivation for a hypotetic different role of HCMV-primed CD4+ or CD8+ T-cells in fetal brain, with progressive brain lesions coexistent in the first case and with severe unexpected anemia in the second case. A previous maternal HCMV immunity should not exempt to test anemic fetuses for such infection, nor to consider a potential transplacental transmission.
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Infecciones por Citomegalovirus , Complicaciones Infecciosas del Embarazo , Cesárea , Citomegalovirus , Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/diagnóstico por imagen , Femenino , Feto , Humanos , Recién Nacido , Embarazo , Complicaciones Infecciosas del Embarazo/diagnósticoRESUMEN
Prenatal DA closure due to early maternal intake of high-dose paracetamol and selective serotonin reuptake inhibitors. MC twin pregnancy uncomplicated by TTTS with discordant prenatal DA closure.
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OBJECTIVES: To evaluate incidence of cerebral injury and outcome in a large series of monochorionic (MC) twin survivors after spontaneous single fetal demise. METHODS: Retrospective analysis of all MC pregnancies with single fetal demise diagnosed at, or referred to, the Fetal Therapy Unit "U. Nicolini," V. Buzzi Children's Hospital, Milan, Italy, from 2004 to 2015. Survivors evaluation protocol included detailed ultrasound (US) of intracranial anatomy, Doppler investigation of peak systolic velocity in the middle cerebral artery (MCA-PSV), and magnetic resonance (MR). Data were collected on pregnancy characteristics, postnatal brain scan, and MR and neurological follow-up. RESULTS: Seventy-eight consecutive MC pregnancies were analyzed. Median gestational age (GA) at single fetal demise was 22 weeks (range 15-36); median interval between single demise and live birth was 105 days (range 1-175), with a median GA at birth of 36 weeks (range 23-41). Prenatal MR was performed in 57 of 78 cases (73%). Cerebral injury affected 14/78 (18%) co-twins, 2 of whom were born immediately after single demise, with postnatal diagnosis of cerebral injury; of the other 12 fetuses that were studied before birth, 10 had a prenatal diagnosis of lesion both with US and MR, one only with MR, and in one case, a grade III intraventricular hemorrhage was reported only after delivery, which occurred at 25 weeks, 5 weeks after the single demise. Signs of fetal anemia (MCA-PSV value above 1.55 MoM) were related to a higher risk of prenatal cerebral injury; cases with postnatal diagnosis of lesion were delivered at lower GA. CONCLUSIONS: Cerebral injury affects 18% of co-twin survivors after single fetal demise in MC twin pregnancies, and evaluation and follow-up of these cases can improve detection rate of such damage.
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Lesiones Encefálicas/epidemiología , Muerte Fetal , Enfermedades Fetales/epidemiología , Embarazo Gemelar , Lesiones Encefálicas/diagnóstico por imagen , Femenino , Enfermedades Fetales/diagnóstico por imagen , Humanos , Incidencia , Italia/epidemiología , Embarazo , Estudios Retrospectivos , Factores de Riesgo , Ultrasonografía PrenatalRESUMEN
BACKGROUND: A poor adherence to r-hGH therapy is associated to a low growth rate in patients with growth deficiency. For this reason, the choice of an objective method, such as an electronic device, for monitoring treatment adherence is very important. This retrospective study evaluated the r-hGH treatment adherence of patients with growth deficiency, monitored through the easypod™ device. METHODS: Data from 90 patients (52 males and 38 females; mean age at the end of the study: 11.9 years ±3.40) enrolled in six Italian centers, was collected from the beginning of the r-hGH therapy until the end of the study through the easypod™ device. The primary endpoint, i.e. treatment adherence, was the ratio between actual days of treatment and planned days of treatment. Secondary endpoints were: relationship between heights measured at the beginning and at the end of the study, the change of the height SDS and the growth rate. RESULTS: Data from easypod™ showed that the mean adherence was 70±13%. The mean age-adjusted growth of the patients was 28.68±13.8 cm during the treatment period of 977 days, and the 6-month growth rate for the planned period was 3.78±8.1 cm. A positive correlation between the adherence rate and the change of the height SDS value was observed (P<0.0006). CONCLUSIONS: The easypod™ device seems to be a valid tool for quickly identifying non-adherence habits, allowing physicians to implement actions focused on reinforcing the importance of treatment both for patients and caregivers.
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Equipos y Suministros , Monitoreo Fisiológico/instrumentación , Cumplimiento y Adherencia al Tratamiento , Adolescente , Estatura/efectos de los fármacos , Niño , Femenino , Trastornos del Crecimiento/tratamiento farmacológico , Hábitos , Hormona de Crecimiento Humana/uso terapéutico , Humanos , Italia , Masculino , Educación del Paciente como Asunto , Proteínas Recombinantes/uso terapéutico , Estudios RetrospectivosRESUMEN
INTRODUCTION: Vascular anastomoses in monochorionic (MC) twin placenta can be easily identified with color-dye injection. The aim of this study is to analyze the relationship between different type of anastomoses and twin pregnancy complications. METHODS: From January 2011 to October 2014, MC placentas were analyzed with color-dye injection and five group of pregnancies were identified: those that were not complicated (NC), those complicated with selective intrauterine growth restriction (sIUGR), twin-twin transfusion syndrome (TTTS), or twin anemia-polycitemia sequence (TAPS) and those with amniotic fluid discordance (AFD) between twins. Cases of TTTS treated with endoscopic laser coagulation of placenta anastomoses or cases with in utero death of one twin were excluded. RESULTS: A total of 118 MC placentas were observed, 58 (49%) NC, 35 (30%) sIUGR, 10 (8%) TTTS, 13 (11%) AFD and 2 (2%) TAPS. The median number of anastomoses was 7 (range 1-15), 8 (2-18), 4 (2-11), 7 (2-13) and 1 (1-1), respectively. At least one artero-venous anastomoses was found in the placenta observed, while the prevalence of artero-arterial anastomoses was 95% for NC, 91% for sIUGR, 60% for TTTS, and 77% for AFD; no TAPS placenta had this type of anastomoses. The diameter of arteroarterial anastomoses was greater in the AFD group (3.3 mm), compared to the NC, sIUGR and TTTS groups (2.3, 2.5 and 1.4 respectively, p 0.04). DISCUSSION: In this large serie of MC placenta analyzed with color-dye injection, a specific distribution of anastomoses emerged for twins with amniotic fluid discordance, which points to a need for intensive surveillance.
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Retardo del Crecimiento Fetal/patología , Transfusión Feto-Fetal/patología , Placenta/patología , Adulto , Estudios de Casos y Controles , Colorantes , Femenino , Humanos , Inyecciones , Persona de Mediana Edad , Embarazo , Gemelos Monocigóticos , Adulto JovenRESUMEN
Congenital hiatal hernia is a condition characterized by herniation of the abdominal organs, most commonly the stomach, through a physiological but overlax esophageal hiatus into the thoracic cavity. Prenatal diagnosis of this anomaly is unusual and only eight cases have been reported in the literature. In this paper we describe a case of congenital hiatal hernia that was suspected at ultrasound at 39 weeks' gestation, on the basis of a cystic mass in the posterior mediastinum, juxtaposed to the vertebral body. Postnatal upper gastrointestinal tract series confirmed the prenatal diagnosis. Postnatal management was planned with no urgency. Hiatal hernia is not commonly considered in the differential diagnosis of fetal cystic chest anomalies. This rare case documents the importance of prenatal diagnosis of this anomaly for prenatal counseling and postnatal management.