Amniotic band sequence: prenatal diagnosis, phenotype descriptions, and a proposal of a new classification based on morphologic findings.

OBJECTIVE: The aim of this study is to describe the phenotype of fetuses affected by amniotic band sequence (ABS) that were diagnosed at the Instituto Nacional de Perinatología Isidro Espinosa de los Reyes and to propose a new classification based on morphologic findings. MATERIAL AND METHODS: Cases with a final diagnosis of amniotic band sequence, diagnosed between January 1993 and July 2010 in the Department of Maternal Fetal Medicine, were reviewed. Demographic, clinical, and periconceptional data were collected, and the defects were described and classified. The association frequencies of the defects were also determined. RESULTS: We included 50 cases with prenatal diagnosis of amniotic band sequence. The mean maternal age was 25.7 ± 6.9 years. Of these patients, 54% (27/50) were primiparous compared to 22% (11/50) who had three or more previous pregnancies. Craniofacial defects were seen in 78% (39/50) of the cases, followed by defects of the extremities 70% (35/50), abdominal wall, spine, and/or thorax 52% (26/50). The most frequent defects were the following: a) Encephalocele and facial clefts in the craniofacial group. b) Shortening at any level in the limb defects group, and c) Alterations of the spinal column curvature in the group of "other" defects. CONCLUSIONS: The amniotic band sequence shows a tendency to affect women who are in their earlier years of reproduction. We observed an inverse relationship between the number of pregnancies and the frequency of presentation of this pathology. The majority of affected fetuses showed a phenotype that fit into one of many groups. Therefore, we propose classifying the amniotic band sequence phenotypes into the following groups: I. Craniofacial defect + limb defect. II. Craniofacial defect + limb defect + abdominal wall, spinal column, and/or thoracic defects. III. Limb defect + abdominal wall, spinal column, and/or thoracic defects; and IV. Isolated defect (craniofacial, limb, or thoraco-abdominal wall). This classification system will be helpful in diagnosing amniotic band sequence. Based on future research studies, we hope that we can use this classification system as a prognosis fetal factor to establish a more accurate fetal prognosis and recurrence probability. Finally, we created a flowchart describing all of the steps that were followed by our Department from the moment an amniotic band was found by ultrasound until the definitive diagnosis was made and the follow up according to the fetal findings.

Automatic segmentation of the fetal cerebellum on ultrasound volumes, using a 3D statistical shape model.

Previous work has shown that the segmentation of anatomical structures on 3D ultrasound data sets provides an important tool for the assessment of the fetal health. In this work, we present an algorithm based on a 3D statistical shape model to segment the fetal cerebellum on 3D ultrasound volumes. This model is adjusted using an ad hoc objective function which is in turn optimized using the Nelder-Mead simplex algorithm. Our algorithm was tested on ultrasound volumes of the fetal brain taken from 20 pregnant women, between 18 and 24 gestational weeks. An intraclass correlation coefficient of 0.8528 and a mean Dice coefficient of 0.8 between cerebellar volumes measured using manual techniques and the volumes calculated using our algorithm were obtained. As far as we know, this is the first effort to automatically segment fetal intracranial structures on 3D ultrasound data.

Prenatal prevalence of skeletal dysplasias and a proposal ultrasonographic diagnosis approach.

OBJECTIVE: To determine the prevalence of fetal bone dysplasias diagnosed at the Department of Maternal Fetal Medicine (UNIMEF) of the Instituto Nacional de Perinatologia (INPer); and to describe the most frequent skeletal dysplasias and to propose a diagnostic flow chart. MATERIALS AND METHODS: This is a case series study including skeletal dysplasias cases from January 1995 until December 2009 at the UNIMEF Statistical analysis was performed using SPSS 12 statistical software. RESULTS: A total of 81,892 births were registered at the institution during the study period. The prevalence of bone dysplasia was 8.1 per 10,000 births. We used a diagnostic flow chart that was developed at our institution to diagnose skeletal dysplasias. Micromelia (n = 40, 59.7%) and both rhizomelia and mesomelia (n = 17, 25.3%) were highly prevalent. We found other structural anomalies in 40 cases (61.1%), which were associated with different skeletal dysplasias; these other anomalies were mainly congenital heart diseases (12 cases) with a predominance of ventricular septal defects. There was polyhydramnios in 43.2% of cases. The mean of the gestational age at diagnosis was 24.5 weeks (SD 5.66). The karyotype was obtained in 11.9% (8/67) of cases. A total of 7 stillbirths and 11 neonatal deaths were registered, of which only 10 cases received a necropsy. Births occurred in the third trimester for 88% of cases, of which 85% were born via Cesarean section, whereas in the second trimester, the vaginal approach was chosen in 100% of cases. CONCLUSIONS: The prenatal diagnosis of bone dysplasias is challenging due to the late development of the diagnostic features. Nevertheless, using ultrasonography in a systematic approach, in conjunction with a multidisciplinary approach, is a key factor in the diagnosis of this disease during the fetal period.

[Diffuse cavernous hemangioma of the uterus diagnosed during pregnancy. Case report]. / Hemangioma cavernoso difuso del utero diagnosticado durante el embarazo. Reporte de un caso.

We report the case of a pregnancy of 16 weeks with anemia and a presumptive diagnosis of partial mole. In secondary care this diagnosis was ruled out through ultrasonography and diffuse cysts were found in the myometrium. Spectral Doppler ultrasound showed no flow, but it could be observed with power angiography. Cesarean section was performed at 38 weeks and hysterectomy 24 hours after because of intra-abdominal hemorrhage. Power angiography, spectral Doppler and serum human chorionic gonadotropin are the most useful diagnostic tools in the differential diagnosis of diffuse cavernous hemangioma of the uterus. Postpartum hemorrhage is a likely complication.

Automatic segmentation of the cerebellum of fetuses on 3D ultrasound images, using a 3D Point Distribution Model.

Analysis of fetal biometric parameters on ultrasound images is widely performed and it is essential to estimate the gestational age, as well as the fetal growth pattern. The use of three dimensional ultrasound (3D US) is preferred over other tomographic modalities such as CT or MRI, due to its inherent safety and availability. However, the image quality of 3D US is not as good as MRI and therefore there is little work on the automatic segmentation of anatomic structures in 3D US of fetal brains. In this work we present preliminary results of the development of a 3D Point Distribution Model (PDM), for automatic segmentation, of the cerebellum in 3D US of the fetal brain. The model is adjusted to a fetal 3D ultrasound, using a genetic algorithm which optimizes a model fitting function. Preliminary results show that the approach reported is able to automatically segment the cerebellum in 3D ultrasounds of fetal brains.

[Prevalence and complications of monochorionic diamniotic twin pregnancy]. / Prevalencia y complicaciones del embarazo gemelar monocorial biamniótico.

BACKGROUND: Monochorionic biamniotic (MC/BA) twin pregnancies are at higher risk for twin-to-twin transfusion syndrome (TTTS), selective intrauterine growth restriction (sIUGR) and structural defects. MATERIAL AND METHOD: During an 18 months period all MC/BA twins referred to our unit for clinical surveillance were evaluated. Chorionicity was assessed based on the characteristics of the intertwin amniotic membrane. MC complicated cases were labeled either as, TTTS or sIUGR and classified according to severity. All cases were closely evaluated for structural defects. RESULTS: There were 34 MC/BA pregnancies, from them 20 presented TTTS, 6 in a moderate stage of severity, and 14 severely affected. Four cases had sIUGR, all severely affected. Four pregnancies showed a structural defect, 2 cardiac, 1 urological, and 1 open neural tube defect. Six twin MC/BA pregnancies underwent gestation without complications. CONCLUSION: The presence of a MC/BA twin pregnancy warrants close monitoring, including a detailed anatomical review and hemodynamic assessment of the umbilical arteries and ductus venosus of both twins.

[Perinatal results of the patients assessed by fetal hypomotility]. / Resultado perinatal de las pacientes evaluadas por hipomotilidad fetal.

OBJECTIVE: To describe the perinatal outcome of those patients that come to emergency room because of diminished fetal movements. PATIENTS AND METHOD: This is a case series in which we evaluated the patients who were attended at the Maternal Fetal Medicine Department from January 2002 to December 2003. All patients with prenatal control in the institution whatever the basic pathology were enrolled in the study. They were evaluated following the institution protocol. All data was obtained from maternal and neonatal files. RESULTS: A total of 240 patients with mean age of 27 +/- 7 (SD) years were evaluated in the study. Ninety of them (37%) were primiparous, 66 (27%) secundiparous, and 44 (18%) coursed the third pregnancy. Mean gestational age when they were evaluated for diminished fetal movements was 37.1 +/- 2.5 (SD) weeks. After the evaluation, 195 (81%) patients resulted with a reactive non-stress test, 42 (17%) had a non-reactive stress test with a positive vibroacoustic stimulation test, no patients were found with a non-reactive non-stress test and a negative vibroacoustic stimulation test. In two patients (< 1%) the register showed ominous pattern. In these two preterm cases pregnancy was interrupted. Mean gestational age at birth was 39.1 (+/- 1.7) weeks, and 223 (92.91%) born at term. From the two intervened cases, one had intrauterine growth restriction and the other asphyxia with intraventricular hemorrhage as a consequence. CONCLUSIONS: Hypomotility is one manifestation of the loss of fetal well-being and cannot be ignored because there are some cases in which intervention is needed. A great number of patients without a real risk of asphyxia and with a good perinatal outcome must be evaluated, so we have to look for another mechanism of evaluation for these patients. A clinimetric method could be an intermediary step between clinic and electronic surveillance.

Estudio de las anomalías congénitas: utilidad de la amnioinfusión en la evaluación del embarazo con oligohidramnios severo-anhidramnios / Usefulness of amnioinfusion in server oligohydramnios-amnioinfusion

La infusión intra-amniótica de solución salina ha sido propuesta en los embarazos con oligohidramnios severo o anhidramnios para mejorar el diagnóstico ultrasonográfico en caso de anomalías estructurales; confirmar o exlcuir la ruptura de membranas; y determinar el cariotipo fetal. Se presenta la experiencia con 76 amnioinfusiones prenatales, realizadas en 65 embarazadas con diagnóstico de oligohidramnios severo o anhidramnios con edad gestacional media de 24.4 semanas; se describen los diagnósticos previos y posteriores a las amnioinfusiones. El procedimiento fue exitoso en 71 casos (93.4 por ciento) con la infusión de un volumen medio de 187.3 ml. de solución salina. Antes de la amnioinfusión se realizaron 87 diagnósticos de sospecha de los cuales 77 fueron confirmados post-amnioinfusión (88.5 por ciento), los hallazgos incluyeron: 65 alteraciones estructurales, 8 retardos en el crecimiento y 4 rupturas de membranas. Los diagnósticos excluidos correspondieron a 6 rupturas de membranas y 4 anomalías estructurales. El grupo de anomalías no sospechadas previamente y diagnosticadas post-amnioinfusión incluyó 25 estructurales y 7 cromosómicas. Dentro de las complicaciones se presentaron 7 casos de ruptura prematura de membranas. Se discuten las contribuciones de la amnioinfusión en el diagnóstico prenatal, enfatizando su utilidad para determinar un pronóstico y decidir la conducta más apropiada. Se concluye señalando el papel importante de este procedimiento en la evalución del embarazo con oligohidramnios severo o anhidramnios. Finalmente, se recomienda hacer esfuerzos en futuras investigaciones para establecer una evaluación adecuada y completa acerca de los beneficios y riesgos de este procedimiento diagnóstico, antes de su incorporación a la práctica clínica

Utilidad de los marcadores ultrasonográficos de cromosomopatía / Usefulness of ultrasonographic markers of chromosomopathy

Durante un periodo de tres años y medio, en 132 mujeres embarazadas se diagnosticó la presencia de una amplia variedad de anomalías morfológicas fetales, sugestivas de cromosomopatía, utilizando un equipo de ultrasonido de alta definición y la participación multidisciplinaria. En 95 casos se realizó amniocentesis para estudio del cariotipo fetal. En esta población se determinó la incidencia de cromosomopatía, su contribución al total de las alteraciones cromosómicas diagnosticadas en el periodo de estudio y la expresión fenotípica de las diferentes aneuploidías. Se encontraron 29 cariotipos fetales anormales; 11 con tisomía 18, siete con monosomía del X, cuatro trisomía 21, tres con trisomía 13, uno tetraploidía (29xxyy), uno con mosaico para Turner (45XO 68 por ciento, 46XY 32 por ciento) y dos con inversión en el cromosoma nueve. Del total de las cromosomopatías diagnosticadas en el mismo periodo (N=50), el grupo con anomalías morfológicas representó 49.2 por ciento, mientras que las otras poblaciones de riesgo, de cinco a 15 por ciento. Se diagnosticaron 224 anormalías morfológicas, 43 (19 por ciento) aisladas y 181 (81 por ciento) asociadas. Un número de 80 (36 por ciento) se presentaron en las cromosomopatías. Los marcadores que tuvieron mayor asociación fueron la atresia duodenal, la cardiopatía, la microcefalia, la fosa posterior amplia y el higroma quístico. Se encontró un patrón de marcadores específicos para cada alteración cromosómica. Se concluyó que el ultrasonido puede ser el método más útil para seleccionar el grupo de embarazadas con mayor riesgo de cariotipo anormal