RESUMEN
OBJECTIVE: The aim of this retrospective study was to describe the sonographic appearance of the posterior brain anatomy in normal fetuses at 11 to 14 weeks of pregnancy and to determine the fetal outcome when one of the posterior brain anatomical space is not recognized. METHODS: Two groups of patients were included in the study: a control group of consecutive 311 healthy fetuses with a normal sonogram and a study group of 21 fetuses with absence of one of the three posterior brain spaces. In each fetus, images of the mid-sagittal view of the fetal face and brain at 11 to 14 weeks of gestation were obtained. RESULTS: In all fetuses with absence of one of the three posterior brain spaces, a severe anomaly, including open spina bifida, cephalocele, Dandy-Walker complex, and chromosomal aberrations, was associated. CONCLUSION: Our study indicates that the sonographic finding characterized by the absence of one of the three posterior brain spaces seems to facilitate not only the detection of open spina bifida, as previously reported, but also of other neural tube defects, such as cephalocele, and is an important risk factor for cystic posterior brain anomalies, and/or chromosomal abnormalities. Thus it seems a poor prognostic finding for major fetal abnormalities.
Asunto(s)
Tronco Encefálico/diagnóstico por imagen , Trastornos de los Cromosomas/diagnóstico por imagen , Cisterna Magna/diagnóstico por imagen , Síndrome de Dandy-Walker/diagnóstico por imagen , Cuarto Ventrículo/diagnóstico por imagen , Defectos del Tubo Neural/diagnóstico por imagen , Ultrasonografía Prenatal , Tronco Encefálico/anomalías , Estudios de Casos y Controles , Cisterna Magna/anomalías , Encefalocele/diagnóstico por imagen , Femenino , Cuarto Ventrículo/anomalías , Edad Gestacional , Humanos , Embarazo , Resultado del Embarazo , Primer Trimestre del Embarazo , Estudios Retrospectivos , Espina Bífida Quística/diagnóstico por imagenRESUMEN
OBJECTIVES: To evaluate the feasibility of examining aberrant right subclavian artery (ARSA) at first and second trimester gestation, its prevalence and associations in an unselected population. METHODS: Right subclavian artery (RSA) was prospectively evaluated in 6617 routine patients. When ARSA was detected, fetal echocardiography was offered and fetal karyotyping was discussed. If invasive testing was performed with normal karyotype, fluorescence in situ hybridization for 22q11.2 microdeletion and additionally, in case of nuchal translucency (NT) measurement above the 99(th) centile, oligo array-based comparative genomic hybridization, were offered. In all aneuploidies, NT and first trimester additional ultrasonographic (US) markers assessment (nasal bone, tricuspid valve, ductus venosus) were recorded. RESULTS: RSA assessment was feasible in 85.3% and 98% of first and second trimester examinations, respectively (overall feasibility 94%). There were detected 89 ARSA (1.42% of the feasible cases), of which 66 in the first trimester. More than 20% were associated to other abnormalities: 10 aneuploidies; 2 microdeletions (15q11.2 and 22q11.2); in the euploid fetuses, 8 associated abnormalities were observed, 4 of which were cardiac defects. In the case of 22q11.2 microdeletion, ARSA was associated only with increased NT. CONCLUSION: Prenatal routine US assessment of the RSA is feasible by highly experienced operators in first trimester screening. There is an important association of ARSA detected in unselected population with fetal abnormalities, including aneuploidies, cardiac defects and genetic anomalies. In trisomy 21 fetuses, ARSA can be the only first trimester US marker or, when associated to increased NT, it can represent the only 'additional' marker.
Asunto(s)
Aneurisma/diagnóstico por imagen , Aneurisma/embriología , Anomalías Cardiovasculares/diagnóstico por imagen , Anomalías Cardiovasculares/embriología , Trastornos de Deglución/diagnóstico por imagen , Trastornos de Deglución/embriología , Edad Gestacional , Diagnóstico Prenatal/métodos , Ultrasonografía Prenatal , Aneuploidia , Deleción Cromosómica , Cromosomas Humanos Par 22/genética , Anomalías Congénitas/diagnóstico por imagen , Estudios de Factibilidad , Femenino , Cardiopatías Congénitas/diagnóstico por imagen , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Medida de Translucencia Nucal , Embarazo , Estudios Prospectivos , Arteria Subclavia/anomalías , Arteria Subclavia/diagnóstico por imagen , Arteria Subclavia/embriologíaRESUMEN
The authors reported the outcome of a retrospective study of patients with HELLP syndrome to verify whether this pathology is a clinical entity with models of evolution, regression and well defined treatment. A total of 20 individual cases were reported at the Division of Obstetrics and Gynecology at the G. Gaslini Institute during the period from January 1990 to September 1995. All cases showed the normalisation of the various clinical and hematochemical parameters within a maximum of 8 days after birth. The rapid diagnosis, the immediate extraction of the fetus and appropriate medical treatment led to the prompt resolution of this severe pathology without the need for demolitive surgery frequently used in the past.
Asunto(s)
Síndrome HELLP , Adulto , Anticonvulsivantes/uso terapéutico , Antihipertensivos/uso terapéutico , Cesárea , Femenino , Síndrome HELLP/diagnóstico , Síndrome HELLP/terapia , Humanos , Recién Nacido , Edad Materna , Paridad , Sustitutos del Plasma/administración & dosificación , Plasmaféresis , Embarazo , Estudios Retrospectivos , Factores de TiempoAsunto(s)
Anomalías Congénitas/patología , Retardo del Crecimiento Fetal/genética , Retardo del Crecimiento Fetal/patología , Enfermedades del Desarrollo Óseo/genética , Enfermedades del Desarrollo Óseo/patología , Aberraciones Cromosómicas , Anomalías Congénitas/diagnóstico por imagen , Anomalías Congénitas/genética , Femenino , Retardo del Crecimiento Fetal/diagnóstico por imagen , Humanos , Recién Nacido , Recién Nacido Pequeño para la Edad Gestacional , Embarazo , Síndrome , Ultrasonografía PrenatalRESUMEN
Prenatal diagnosis of heterozygous achondroplasia at 25 weeks is described. First-level fetal ultrasonography demonstrated short long bones of the lower limbs. Second-level examination showed a large head; shortened femur, fibula, and tibia; a 'trident'-shaped hand; and an abnormal facial profile.
Asunto(s)
Acondroplasia/diagnóstico por imagen , Acondroplasia/genética , Ultrasonografía Prenatal , Aborto Terapéutico , Adulto , Amniocentesis , Biometría , Femenino , Fémur/anomalías , Fémur/diagnóstico por imagen , Deformidades Congénitas de la Mano/diagnóstico por imagen , Cabeza/anomalías , Cabeza/diagnóstico por imagen , Humanos , Embarazo , Columna Vertebral/anomalías , Columna Vertebral/diagnóstico por imagenRESUMEN
The Authors report 4 cases of gonadal dysgenesis with a Y chromosome. Every patient underwent bilateral oophorectomy. Two cases of streak gonads, 1 case of streak gonad and gonadoblastoma and 1 case of non metastasizing bilateral gonadoblastoma with foci of dysgerminoma have been found. The Authors emphasize the importance of early bilateral gonadectomy in all cases of gonadal dysgenesis with a Y chromosome.
Asunto(s)
Disgenesia Gonadal/cirugía , Cromosoma Y , Adolescente , Adulto , Amenorrea/etiología , Amenorrea/genética , Femenino , Disgenesia Gonadal/genética , Disgenesia Gonadal/patología , Humanos , Ovariectomía/métodosRESUMEN
The Authors describe a case of HELLP syndrome associated with disseminated intravascular coagulation occurred after delivery in a patient with late hypertension without any sign or symptom of preeclampsia during pregnancy. The use of plasma exchange has contributed to the recovery from the pathology.
Asunto(s)
Anemia Hemolítica/complicaciones , Trastornos de las Plaquetas Sanguíneas/complicaciones , Coagulación Intravascular Diseminada/complicaciones , Intercambio Plasmático , Trastornos Puerperales/terapia , Adulto , Anemia Hemolítica/terapia , Trastornos de las Plaquetas Sanguíneas/terapia , Coagulación Intravascular Diseminada/terapia , Femenino , Humanos , Hígado/enzimología , Recuento de Plaquetas , Embarazo , Trastornos Puerperales/sangre , SíndromeAsunto(s)
Siringomielia/diagnóstico por imagen , Ultrasonografía Prenatal , Adulto , Femenino , Enfermedades Fetales/diagnóstico por imagen , Humanos , Recién Nacido , Masculino , Embarazo , Médula Espinal/diagnóstico por imagen , Disrafia Espinal/complicaciones , Disrafia Espinal/diagnóstico por imagen , Siringomielia/complicacionesRESUMEN
The Authors report 15 pregnancies obtained by multifollicular ovarian stimulation with gonadotropins. They have used only the utero-ovarian echographic monitoring for ovarian response surveillance, for the timing of hCG administration and for a prognostic judgement of the pregnancy outcome.
Asunto(s)
Endometrio/patología , Infertilidad Femenina/patología , Ultrasonografía , Aborto Espontáneo/diagnóstico , Gonadotropina Coriónica/administración & dosificación , Femenino , Humanos , Infertilidad Femenina/tratamiento farmacológico , Inducción de la Ovulación , Embarazo , Embarazo Ectópico/diagnóstico , Embarazo MúltipleRESUMEN
A prenatal diagnosis of campomelic dysplasia in a primigravida is described. First level fetal ultrasonography demonstrated bowing and shortening of lower limbs. Second level examination allowed the correct diagnosis by demonstrating several skeletal anomalies pathognomonic of campomelic dysplasia.
Asunto(s)
Enfermedades del Desarrollo Óseo/diagnóstico , Enfermedades Fetales/diagnóstico , Diagnóstico Prenatal , Ultrasonografía , Adulto , Enfermedades del Desarrollo Óseo/patología , Huesos Faciales/anomalías , Femenino , Enfermedades Fetales/patología , Humanos , Hipofosfatasia/diagnóstico , Pierna/anomalías , Osteogénesis Imperfecta/diagnóstico , Embarazo , Cráneo/anomalíasRESUMEN
Magnetic resonance (MR) imaging was performed at 29 weeks of pregnancy after ultrasonographic detection of an abnormal cleft in the fetal brain. Fetal neuromuscular blockade was induced by pancuronium bromide injected into the umbilical vein under continuous ultrasound (US) guidance. MR images supported the echotomographic diagnosis of schizencephaly improving the visualization of symmetrical broad clefts connecting the lateral ventricles with the subarachnoid space. Schizencephaly was finally confirmed by neonatal US, computed tomography, and MR.
Asunto(s)
Encéfalo/anomalías , Imagen por Resonancia Magnética , Diagnóstico Prenatal , Ultrasonografía , Adulto , Femenino , Edad Gestacional , Humanos , Masculino , EmbarazoRESUMEN
The prenatal diagnosis by ultrasound of an unusual case of supernumerary head is reported. The problems of differential diagnosis, the pathological findings after voluntary interruption of the pregnancy, and the problems of obstetric management are presented.