1/68. Prenatal sonographic features of embryonal rhabdomyosarcoma.We describe a case of fetal rhabdomyosarcoma detected during the third trimester of pregnancy by prenatal sonography. At 33 weeks' gestation, sonography performed because of suspected polyhydramnios showed a solid mass of 120 x 54 mm arising from the anterior wall of the fetal thoracic cage. Another mass within the left maxillary area which originated from the left orbital floor was also detected. In the abdomen, there were multiple round masses in and around the liver. As the previous scan at 28 weeks had appeared normal, the multiple masses which became visible and enlarged rapidly in different locations led us to believe that there was fetal cancer. The most likely diagnosis was rhabdomyosarcoma (which was later confirmed), because it is the most prevalent soft-tissue tumor in children and may develop within or outside muscle anywhere in the body and at any age. Two other reported cases which were detected by prenatal ultrasound examination are also discussed.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
2/68. Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories.We aimed to discuss the prenatal diagnosis and pathological features of sirenomelia, and to review current embryogenic theories. We observed two sirenomelic fetuses that were at the 19th and 16th gestational week respectively. In the former, transvaginal ultrasound revealed severe oligohydramnios and internal abortion, whereas bilateral renal agenesis, absence of a normally tapered lumbosacral spine, and a single, dysmorphic lower limb were detected in the latter. In both cases, x-rays and autoptic examination allowed categorization on the basis of the skeletal deformity. Subtotal sacrococcygeal agenesis was present in both cases. Agenesis of the urinary apparatus and external genitalia and anorectal atresia were also found. classification of sirenomelia separately from caudal regression syndrome is still debated. Recent advances in the understanding of axial mesoderm patterning during early embryonic development suggest that sirenomelia represents the most severe end of the caudal regression spectrum. Third-trimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios related to bilateral renal agenesis, whereas during the early second trimester the amount of amniotic fluid may be sufficient to allow diagnosis. Early antenatal sonographic diagnosis is important in view of the dismal prognosis, and allows for earlier, less traumatic termination of pregnancy.- - - - - - - - - - ranking = 1.5keywords = embryo (Clic here for more details about this article) |
3/68. First-trimester ultrasound diagnosis of holoprosencephaly: three case reports.We present three cases of fetal holoprosencephaly diagnosed by transabdominal and transvaginal ultrasound examinations at 10 and 13 weeks' gestation. The diagnosis was based on two sonographic criteria: first, the intracranial finding of a single ventricle with a cerebral mantle and no visible midline structures but fusion of the thalami and corpus striatum; and, second, facial abnormalities, including hypotelorism. The ultrasound findings were confirmed by embryoscopy before abortion in one case and by pathological examination after abortion in two cases. Chromosome study of the three fetuses showed trisomy 18, triploidy and mosaic 18p deletion and duplication.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
4/68. Familial association of congenital left heart abnormalities and sustained fetal arrhythmia.hypoplastic left heart syndrome (HLHS) is the most common cause of death from heart disease in the first week of life. There are reports about familial concordance by presumed morphogenetic mechanisms of abnormal embryonic blood flow with phenotypes of varying severity. The risk of having a child with a left heart lesion after a previously affected child may be as high as 5% to 12%. We present case reports from four families in which sustained fetal arrhythmia (three ectopic atrial tachycardias and one severe bradycardia due to excessive ectopic atrial beats) was demonstrated. Within these four families a close relative of the mother (a previous child, a brother, or a nephew) had severe left heart abnormality (three with HLHS and one with severe aortic valve stenosis). The association of sustained fetal arrhythmia of ectopic atrial origin and severe left heart abnormalities could be expected to occur by chance in a very low percentage of cases. We conclude that sustained fetal atrial ectopic arrhythmia is a congenital abnormality and should be considered as a risk factor for inherited congenital heart abnormalities.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
5/68. Fetal brain infection with human parvovirus B19.Intrauterine parvovirus B19 infection is known to be one of the causes of hydrops fetalis. However, there are few reports of the pathologic changes in the central nervous system. Postmortem examination of a fetus revealed multinucleated giant cells of macrophage/microglia lineage and many small calcifications around the vessels, predominantly in the cerebral white matter. parvovirus B19 genome dna was detected in the nucleus of the multinucleated giant cells and solitary endothelial cells by polymerase chain reaction amplification and in situ polymerase chain reaction methods. capsid antigen was also demonstrated in the cytoplasm of the endothelial cells by immunofluorescent assay. Thus, intrauterine B19 parvovirus infection could be associated with marked neuropathologic changes in the fetal brain at the midembryonal period. Neurologic follow-up of complications may be necessary for children who survive the intrauterine infection.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
6/68. Sonographic diagnosis of limb reduction defects in a fetus with haemoglobin Bart's disease at 12 weeks of gestation.Limb reduction defect is a rare event but is found in eight per cent of fetuses affected by haemoglobin Bart's disease. We present a case of haemoglobin Bart's disease with terminal transverse limb reduction defects of all four limbs diagnosed by abdominal ultrasound examination at 12 weeks of gestation. The pregnancy was terminated by suction curettage. Just prior to the procedure, transabdominal needle embryoscopy was performed and this confirmed the sonographic diagnosis. The present case demonstrates the need and feasibility of a detailed anatomic survey of a fetus affected by haemoglobin Bart's disease at 12 weeks. This is particularly relevant if the patient is considering the option of intra-uterine therapy.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
7/68. In utero repair of rectal atresia after complete resection of a sacrococcygeal teratoma.PURPOSE: A case of a fetus with a prenatally diagnosed sacrococcygeal teratoma that produced high-output cardiac failure, hydrops, rectal atresia, and urinary tract obstruction is presented. The unique prenatal surgical management along with the embryogenesis of tumor-related rectal atresia is discussed. CASE REPORT: A large fetal sacrococcygeal teratoma with a significant intrapelvic component was detected at routine ultrasound in a 35-year-old gravida 3 para 2. Fetal hydrops developed rapidly due to high-output cardiac failure from the vascular 'steal' by the growing tumor. The urinary tract was obstructed due to the intrapelvic tumors mass. At 27 weeks' gestation, the female fetus underwent hysterotomy, resection of the entire mass and urinary diversion via bilateral flank ureterostomies. The rectum was found to be completely atretic due to apparent encasement by the tumor. Pull-through anorectoplasty was carried out concurrently. At 30 weeks' gestation, the mother developed preterm labor and a 1.8-kg was delivered by cesarean section. The baby did very well for 3 days but had a cardiac arrest and died due to an atrial perforation by a transfemoral venous catheter. CONCLUSIONS: To our knowledge this is the first report of a complete prenatal resection of a sacrococcygeal teratoma with concomitant pull-through anorectoplasty for rectal atresia.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
8/68. prenatal diagnosis of body stalk anomaly at 9 weeks of gestation. Case report.We report on a case of embryonic anomaly detected at 9 5 gestational weeks. The lower part of the embryo was located in the coelomic cavity. Lower extremities could not be depicted. The abdominal wall showed the appearance of omphalocoele. After termination of pregnancy at 10 weeks, autopsy confirmed the anomaly of the lower embryonic parts consistent with the diagnosis of body stalk anomaly. To our knowledge, this is the first observation of this condition before 10 gestational weeks.- - - - - - - - - - ranking = 0.75keywords = embryo (Clic here for more details about this article) |
9/68. The natural history of varicella embryopathy: a 25-year follow-up.A patient with clinically and immunologically proven varicella embryopathy achieved substantial recovery after initial severe developmental delay and manages well with her residual physical disabilities in adulthood.- - - - - - - - - - ranking = 1.25keywords = embryo (Clic here for more details about this article) |
10/68. Limb reduction defects as the sonographic manifestation of hemoglobin Bart's disease at 10 weeks of gestation.Fetuses affected by hemoglobin Bart's disease are anemic and hypoxic from the first trimester. They develop cardiac and placental enlargement and have a high incidence of limb reduction defects and hypospadias. We present a fetus at risk for hemoglobin Bart's disease with multiple limb reduction defects detected at 10 weeks of gestation, which allowed a strong presumptive diagnosis of hemoglobin Bart's disease to be made at the time of ultrasound examination. The limb defects were verified by direct visualization via needle embryoscopy. The present case suggests that sonographic identification of limb reduction defects may be a specific marker of hemoglobin Bart's disease at 10 weeks.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
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