PubMed · 13623858
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R E BONHAM-CARTER. 1959. Prognosis.. https://pubmed.ncbi.nlm.nih.gov/13623858/
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BACKGROUND: Heterotaxia syndrome involves multiple anomalies, including cardiac malformations and intestinal rotation abnormalities. Most authors recommend routine radiological evaluation, with laparotomy and Ladd procedure if a rotation abnormality is found. AIMS: To determine if routine radiological screening is necessary, and if there is a group of children that can safely be managed expectantly. METHODS: Retrospective chart review of all children with heterotaxia syndrome from 1968 to 2002. RESULTS: Complete data were available for 177 patients. Twenty five (14%) had neonatal gastrointestinal symptoms (feeding intolerance, vomiting). Eleven of these had gastrointestinal contrast studies, of which seven were abnormal and led to surgery. Of the 152 asymptomatic neonates, nine had radiological screening and six of these were abnormal. Only one was thought to have a narrow based mesentery, but did not undergo surgery due to cardiac disease. There were no intestinal complications on follow up in this group. The other 143 asymptomatic children did not undergo radiological screening and were closely followed. Four subsequently developed gastrointestinal symptoms and had contrast studies; only one of these had malrotation and underwent a Ladd procedure. Of the remaining 139 patients who remained asymptomatic, 60 (43%) died of cardiac disease and none developed intestinal symptoms or complications related to malrotation on follow up. CONCLUSION: Asymptomatic children with heterotaxia syndrome have a low risk of adverse outcome related to intestinal rotation abnormalities. Routine screening may not be necessary as long as close follow up is done, and prompt investigation is performed for those that develop gastrointestinal symptomatology.
OBJECTIVE: To describe Three-Dimensional eXtended Imaging (3DXI) as a new display modality for three-dimensional (3D) ultrasound examination of the fetus. METHODS: The spine, palate, heart and brain were evaluated using 3D ultrasound examination at a mean gestational age of 22 weeks in 35, 31, 32 and 31 fetuses, respectively. The volume data captured were analyzed using the conventional orthogonal display mode (ODM), as well as the 3DXI, which includes the Multi-Slice View (MSV) mode and the Oblique View (OBV) mode. The MSV mode allows simultaneous display of multiple sequential parallel planes while the OBV mode allows examination of a non-standard straight or curved plane. RESULTS: The MSV mode allowed a simultaneous display of multiple sequential parallel planes of the fetal structures, but we found some uncertainty if an isolated image in one of the multi-slice images represented the exact level of a fetal structure. The MSV mode was advantageous in one of the six cases of facial cleft by allowing the simultaneous display of bilateral clefts that were located in two different axial planes. The multi-slice images were helpful in making the diagnosis in one case of holoprosencephaly. The OBV mode allowed examination of the coronal plane across the curvature of the spine, and the 'in-plane' view of the interventricular septum in a non-gated study. CONCLUSION: The 3DXI can display the volume data in a different manner from that which usually results from the use of more conventional ODM, and provide additional information over conventional two-dimensional sonography.
OBJECTIVES: To report the association between thoracic vascular malformations observed in the first trimester of pregnancy and Down syndrome. METHODS: The clinical features were reviewed of seven fetuses undergoing chorionic villus sampling (CVS) for increased nuchal translucency (NT) thickness, in which color Doppler ultrasonography revealed a vascular malformation in the fetal thorax. RESULTS: The crown-rump length of the fetuses ranged from 58 to 78 mm and NT measurements ranged from 2.9 to 10.0 mm. Color Doppler allowed the identification of a highly vascular structure in the posterolateral portion of the fetal thorax, in proximity to the costovertebral angle, at the level of a four-chamber view of the heart. The lesions had a globular shape and were 4-6 mm in diameter, occupying almost one third of the hemithorax. Down syndrome was diagnosed in five out of the seven cases. In the only affected case that underwent postmortem examination, a hemangioma of the chest wall was demonstrated. In the two fetuses with normal karyotype, the lesion disappeared by mid-gestation. CONCLUSION: We report an association between the prenatal Doppler finding of a vascular tumor in the fetal chest and Down syndrome.