Prenatal detection of an abdominal mass by MR imaging performed while the fetus is immobilized with pancuronium bromide.
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Biomedical subjects
Publications and source records attributed to M Lituania.
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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.
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.
A pregnant woman affected with autosomal dominant polycystic kidney disease (ADPKD) had a history of an affected fetus, diagnosed by sonography at 29 weeks of pregnancy. The proband's father was also affected. DNA analysis performed on chorionic villi at 11 weeks during a second pregnancy predicted an affected fetus, and sonographic examination at 14 weeks confirmed the diagnosis.
Two hundred and one pregnancies considered at high risk for congenital heart disease (CHD) underwent fetal cross-sectional echocardiographic (CSE) examination. In 190 cases a structurally normal heart was correctly predicted; seven cases of CHD were identified, but in two of them the specific diagnosis was inaccurate. One false positive diagnosis of a small ventricular septal defect was made. There were three false negative diagnoses: two of ventricular septal defects and one of aortic coarctation. We conclude that severe heart malformations can be reliably identified or excluded by CSE in utero, but important anatomical details may be missed. Therefore, prognosis should be based only on the structures identified to multiple-scan planes.
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.
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Fetal cardiac anatomy was studied by ultrasound in 96 pregnancies between 16 and 24 weeks' gestation. Sequential approach was used to identify all venous, atrioventricular and ventriculoarterial connections as well as intracardiac anatomy. A standard CSE was performed after birth in all patients to confirm the normal heart anatomy. Aortic arch, pulmonary veins and pulmonary artery branches resulted sometimes uncertainly identified but a nearly complete morphological heart study was performed in almost all cases.
We report on 2 unrelated cases of duplication of distal 3p due to balanced maternal translocation t(3;6)(p23;q27) and t(2;3)(p25;p23) respectively. One family was ascertained through the unbalanced offspring and the other through echographic examination of the balanced carrier mother. These cases confirm that dup(3)(p2----pter) results in a characteristic syndrome with distinctive facial appearance. In family 2 inspection of a photograph of a deceased sib was sufficient to conclude that he was affected. The patient in family 2 had cyclopia. Since holoprosencephaly was also reported by Martin and Steinberg [1983], we conclude that this anomaly appears to be a sign of the syndrome. The duplication usually derives from a maternal balanced translocation, in most cases from adjacent-1 segregation. However, family 2 was ascertained through a balanced female carrier who inherited the translocation from the father. We have noted that the second chromosome (which varies without apparent preferences) involved in these translocations is broken consistently at a distal band.
A case of aortic arch interruption detected in a 17-week-old fetus and confirmed after therapeutic abortion is reported. The potential usefulness of cross-sectional echocardiography in prenatal detection of aortic arch anomalies is discussed.
Out of the 29 cases of fetal urinary tract anomalies detected by sonography, the authors report on the 17 cases with potentially correctable malformations. A critical analysis of the diagnostic contribution offered by the radiologic and sonographic studies is presented. The role of ultrasound examination in the choice of a suitable investigation strategy is emphasized, underlining the importance of an accurate approach to avoid diagnostic errors and unuseful procedures. The indications for fetal and neonatal antegrade pyelography are discussed.
Differentiation-dependent expression of enzyme loci was evaluated in two human leukemic cell lines, the pluripotent leukemia cell line K-562 and the promyelocytic-like cell line HL-60. Acetylcholinesterase, a marker of erythroid differentiation, was present in K-562 cells and absent in HL-60 cells. This difference between the two lines was apparently unrelated to dosage effect; other enzymes carried on trisomic chromosomes in K-562 cells did not show dosage effect. Acetylcholinesterase activity was higher in subclone K-562 (S), which shows higher expression of hemoglobin. Electrophoretic mobility of acetylcholinesterase from K-562 (S) was of fetal type.
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PURPOSE: The aim of this paper is to suggest Magnetic Resonance (MR) Imaging as a useful tool in prenatal diagnosis. Although ultrasonography (US) is the imaging technique of choice for prenatal screening, in cases of complex malformations US findings may be sub-optimal and give rise to diagnostic difficulties requiring further investigation. Our study is focused on non-central nervous system (CNS) abnormalities of the foetus imaged using the ultrafast sequence EXPRESS. MATERIALS AND METHODS: 38 women whose foetuses were between 21-34 gestational age were studied. Indications for the examinations included the evaluation of non-CNS abnormalities in 25 cases. Foetal MR imaging was performed on a 1.5 T system (Edge, Marconi Medical System Italia SpA, Vimercate, MI) with the half-Fourier, single-shot, fast spin-echo EXPRESS sequence. Mild maternal and foetal sedation was obtained by oral administration of benzodiazepine (1 mg). RESULTS: In the 25 foetuses investigated for non-CNS pathologies the abnormalities were localised in the chest (9), abdomen (15) and extremities (1). The MR imaging diagnoses were: in the chest - congenital diaphragmatic hernia (CDH) (5), congenital cystic adenomatoid malformation (CCAM) (1), hydrothorax (1), cystic lymphangioma (1), Jeune syndrome (1); in the abdomen - 10 cases of urinary tract diseases - polycystic kidney (4), crossed renal ectopia (2), unilateral renal agenesis (1), solitary pelvic kidney (1), bilateral stenosis of ureteropelvic junction (1), duplex collecting system in association with controlateral hydroureteronephrosis (1)#151;5 cases of non-urinary tract pathologies#151;cystic lymphangioma of the liver (1), abdominal cystic lymphangioma (1), gastroschisis (1), gastric duplication (1), cavernous haemangioma of the liver (1); in the extremities - longitudinal hemimelia (1). CONCLUSIONS: In our experience MR is to be considered a useful though adjunct study to prenatal US particularly in the evaluation of lung parenchyma, congenital diaphragmatic viscera herniation, thoracic masses, pleural effusion, abdominal cystic masses, and urinary tract malformations. The ultrafast EXPRESS sequence enables a complete study to be performed in a very short time; as a consequence the examination is well tolerated by the patient. Currently there is no legislation which regulates the use of magnetic fields in MR, only a series of recommendations based on studies on animal embryos and foetuses, on pregnant women exposed to magnetic fields and follow-up studies of children exposed to MR during gestation. Therefore the decision to proceed with foetal MR should be made on a case-by-case basis in close consultation with the referring obstetrician. Considering the results, in our opinion the potential of MR in the evaluation of a wide variety of non-CNS foetal diseases will increase in the near future.
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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.
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.