In utero ultrasonographic diagnosis of an aberrant umbilical vein associated with fetal hepatic hyperechogenicity

Intra-hepatic abnormalities of the fetal umbilical venous system are poorly documented and clinically not well understood. A case of routine ultrasound examination at 23 weeks' gestation demonstrating foci of hepatic hyperechogenicity and cardiomegaly is presented. Colour Doppler detected absence of flow in the ductus venosus and markedly increased blood flow through an aberrant channel connecting the umbilical vein with the right atrium. The pregnancy was terminated and anomalous venous drainage of the umbilical vein into an enlarged hepatic vein was found, as well as hepatic congestion and focal hepatic necrosis and calcifications. Incidental findings of fetal hepatic hyperechogenicities require colour Doppler investigation of the intra- and extra-hepatic venous systems. We propose that a thrombo-embolic mechanism may be involved in the pathogenesis of these lesions.     

Prenatal ultrasound diagnosis of seizures

We present a case of fetal diagnosed by ultrasound. Clinical aspects of this patient and the differential diagnosis of early neonatal seizures are discussed. A diagnosis of fetal seizures confirmed by ultrasonography is a rare event. Review of the literature shows only four cases of documented fetal seizures. This report describes a case of fetal seizures diagnosed in utero, its management, and the neonatal outcome. We also discuss the differential diagnosis.     

Prenatal diagnosis of fetal thrombocytopenia]

A case of maternal idiopathic thrombocytopenic purpura complicated by severe fetal thrombocytopenia is reported. Fetal thrombocytopenia was diagnosed by scalp blood-sampling during labour. With discussion of the relevant literature, the authors recommend the use of their method in thrombocytopenic patients in labour. In cases of fetal thrombocytopenia Caesarean section in recommended to prevent trauma and subsequent neonatal haemorrhagic complications.     

Prenatal diagnosis and fetal pathology of Tay-Sachs disease

1. The influence of the anorectic drugs fenfluramine, mazindol, mefenorex, phentermine and R 800, an experimental compound, on pulmonary vascular resistance has been studied in the isolated, perfused rat lung. 2. R 800 caused a strong vasoconstriction, which was not antagonized by methysergide of phentolamine; the other drugs listed did not alter vascular resistance. 3. Mazindol and phentermine significantly prolonged the vasoconstrictive effect of serotonin due to inhibition of its metabolic breakdown. 4. Although fenfluramine inhibited serotonin metabolism it also prevented the vasoconstrictive effect of serotonin, due to its ability to act as a serotonin antagonist. 5. Mefenorex did not affect pulmonary vascular resistance, either directly or indirectly via a serotoninergic mechanism.     

Prenatal diagnosis of fetal herpes simplex infection

The Rothmund-Thomson syndrome (RTS), also called poikiloderma congenitale is a rare autosomal recessive disease first described in 1868. This syndrome includes most frequently seen skin lesions (atrophy, telangiectases, pigmentation), cataracts and bone defects (dysostosis, dysplasia). Some authors describe an association with malignancy. We report three cases of Rothmund-Thomson syndrome associated with osteosarcoma. After cutaneous epithelioma, osteosarcoma is the most frequent malignancy. Thus, patients with RTS need a careful survey. The treatment did not differ from sporadic osteosarcoma. Chemosensitivity and toxicity are also not different.     

Prenatal diagnosis of a fetal intracranial tumor

Cap polyposis is a rare intestinal disease that can be difficult to differentiate from inflammatory bowel disease. When cap polyposis is suspected, it is important to confirm protein loss. A 54-year-old woman who had been treated for ulcerative colitis for 7 years had severe hypoproteinemia. Scintigraphy with Tc-99m-labeled DTPA complexed with human serum albumin showed protein loss from the descending colon. Left hemicolectomy and sigmoid colectomy were performed. Cap polyposis was diagnosed on the basis of histologic findings from an operative specimen. The patient's diarrhea resolved after surgery and her hypoproteinemia improved. Scintigraphy with this label gave information helpful in the diagnosis of cap polyposis.     

Prenatal diagnosis of a fetal mediastinal teratoma

BACKGROUND: Adequate excision of invasive penile carcinoma often results in a penile stump of inadequate length to control the urinary stream. A simple technique to lengthen the stump and avoid urethrostomy is described here. METHODS: Additional corporal length is gained by dividing the dorsal suspensory ligaments through a transverse lower abdominal skin incision. Skin length is gained by vertical closure of this incision. RESULTS: This technique has been successful in two cases where the stump length after partial penectomy was borderline. Each patient has a functional stump with satisfactory cosmesis. CONCLUSIONS: In selected cases this technique may avert the need for perineal urethrostomy after adequate excision of a penile cancer.     

Prenatal ultrasound diagnosis of massive subchorionic thrombohematoma

We present a case report of a variation of a Bosworth fracture, which is a posterior dislocation of the proximal fragment of a distal fibula fracture. Our patient had a distal fibula dislocation without fracture. He was treated with an open reduction and internal fixation using syndesmotic screws. At his most recent follow-up, he was ambulating without pain.     

Prenatal diagnosis and management of fetal hydrocephaly and lissencephaly

Two cases of prenatal diagnosis of lissencephaly are presented in the context of a series of 118 cases of prenatally diagnosed hydrocephalus. Within this series there was one case of Walker-Warburg syndrome and another of Miller-Dieker syndrome. It is stressed that the cases reported here of ventriculomegaly diagnosed in utero show a very different outcome from those in published studies of fetal hydrocephalus which only deal with patients in whom the diagnosis was determined after birth. In those postnatal series there is a considerable selection bias, and the fate of the fetuses reported here was much worse than in postnatal series. Of the 118 fetuses 6 had fetal infections, 6 had chromosomal abnormalities, 26 had associated spina bifida, 64 fetuses had associated other anomalies, and only 28 had isolated hydrocephalus. Although it is difficult to determine the prognosis individually after prenatal diagnosis of ventriculomegaly, the data presented here may be helpful in counseling parents prenatally. The counseling should be performed with the collaboration of obstetricians, pediatricians, surgeons, and geneticists.     

Prenatal diagnosis and perinatal management of fetal sacrococcygeal teratoma

OBJECTIVE: To perform an exploratory analysis of the relative contribution of single MHC genes to the pathogenesis of systemic lupus erythematosus (SLE) in a homogenous white population. METHODS: MHC class II alleles and C4 allotypes were determined in 64 SLE patients and in ethnically matched controls. HLA-DR and DQ typing was performed by polymerase chain reaction amplification with sequence specific primers. C4 allotypes were determined by agarose gel electrophoresis. RESULTS: The frequency of C4A*Q0 was significantly higher in patients than in controls (46.9% v 25.3%, p = 0.002). HLA-DRB1, DQA1, and DQB1 alleles in the whole group of SLE patients were not significantly different from those of controls. On the other hand increase in DRB1*03 was observed in the group of patients with C4A*Q0, as compared with patients with other C4A allotypes (p = 0.047). There was no significant correlation between severe and mild disease, as judged by the SLEDAI, and HLADR, DQ alleles and comparing the patients with C4A*Q0 with those with other C4A allotypes there was no significant difference regarding clinical manifestations. CONCLUSION: The results are consistent with the argument that C4A deficiency contributes independently to susceptibility and the pathogenesis of SLE. C4A*Q0 in SLE patients in Iceland shows weaker linkage disequilibrium with DR3 genes than reported in most other white populations and emphasises the role of ethnicity.     

Prenatal diagnosis of a large fetal arachnoid cyst

A case of prenatal diagnosis and management of a giant fetal arachnoid cyst is presented. The importance of an accurate diagnosis is highlighted and the use of three-dimensional ultrasound is discussed. The recent literature is reviewed.     

Early antenatal ultrasound diagnosis of fetal intracranial teratoma

The commonest fetal intracranial tumour is a teratoma. The prognosis is poor with death usually occurring shortly after birth. Modern high resolution ultrasound scanners facilitate examination of the cranial contents, allowing earlier diagnosis. We report a case where an intracranial teratoma was identified at 21 weeks gestation, the earliest gestational age that this has been reported. The ultrasound appearances are discussed.     

Prenatal diagnosis of fetal malformations by ultrafast magnetic resonance imaging

Prenatal ultrasonography is the primary imaging modality in pregnancy as it allows direct real-time fetal examination. Antenatal magnetic resonance imaging (MRI) has so far been of limited clinical value owing to poor image quality. This was due to the long acquisition times that were needed to achieve a high enough spatial resolution for assessment of the small fetal anatomic structures resulting in severe motion artefacts. This problem has now been overcome by recent technical improvements. We present a case of fetal malformation (MURCS association), where an ultrafast T2-weighted RARE sequence (single shot fast spin echo sequence) provided images of excellent quality, which led to the correct antenatal diagnosis. MRI using this sequence can now be used for prenatal diagnosis and is thus likely to become an important adjunct to ultrasonography, especially in cases in which ultrasound findings are unclear of sonographic images are impaired by maternal obesity or oligohydramnios.     

Prenatal diagnosis of fetal nuchal cystic hygroma in 22 cases

OBJECTIVE: To investigate the early diagnosis and prognosis of fetal nuchal cystic hygroma. METHODS: 72 cases of fetal nuchal cystic hygroma diagnosed in uterus were analyzed retrospectively. RESULTS: Most of the cases were diagnosed by B ultrasound between 15-26 gestational weeks. 55.9% the multipara had abnormal pregnant history, and 40% (4/10) of fetuses with karyotype performed had chrosome abnormality. Except for fetal deaths and induced abortions, 3 cases had term deliveries: one neonatal death, one was born with hygroma of 5.9 cm x 3.7 cm and transferred for surgery, and the other one with hygroma disappeared at the 37th week and baby was born at 40 week with normal appearance. CONCLUSIONS: This disease is one of common fetal morphological abnormalities. Few may recover spontaneously but most have poor outcomes.     

Prenatal diagnosis by analysis of fetal cells in maternal blood

Twenty-five fresh-frozen cadaveric specimens were used to evaluate the role of the syndesmotic ligaments when the ankle is loaded with external rotation torque. An apparatus was constructed that allowed pure external-rotation torque to be applied through the ankle with the foot in neutral flexion. The apparatus provided solid fixation of the tibia while allowing free movement of the fibula in all planes. The syndesmotic ligaments were incrementally sectioned, and direct measurements of anatomical diastasis were made. Mortise and lateral radiographs were made at each increment under both loaded (5.0 newton-meters) and unloaded conditions. After all structures of the syndesmosis had been divided, the syndesmosis was reduced and was repaired with one or two screws. The strength of the repair was measured with incremental increases in torque of 1.0 newton-meter. The radiographs were measured by three independent observers in a blind fashion. In order to evaluate intraobserver error, each observer was randomly given forty radiographs to reinterpret. Diastasis and rotation were found to be related to the amount of injury of the ligament (p < 0.0001). After the entire syndesmosis had been divided, application of a 5.0-newton-meter torque resulted in a mean diastasis of 7.3 millimeters. The subsequent repair of the anterior tibiofibular ligament with suture failed at a mean of 2.0 newton-meters (range, 1.0 to 6.0 newton-meters) of torque. Repair with two screws was found to be stronger than repair with one, with the first construct failing at a mean of 11.0 newton-meters (range, 5.0 to 15.0 newton-meters) and the second, at a mean of 6.2 newton-meters (range, 2.0 to 10.0 newton-meters) (p = 0.0005). Failure of the screw fixation was not associated with the maximum previous diastasis (p = 0.13). Measurements of anatomical diastasis were compared with measurements made on the mortise and lateral radiographs. Measurements on the stress mortise radiographs had a weak correlation with diastasis (r = 0.41, p < 0.0001). However, measurements on the stress lateral radiographs had a higher correlation (r = 0.81, p < 0.0001). Additionally, interobserver correlation was significantly higher for the measurements on the lateral radiographs (r = 0.87, p < 0.0001) than for those on the mortise radiographs (r = 0.56, p < 0.0001). Intraobserver correlation for the three observers was poor with regard to the measurements on the mortise radiographs (r = 0.12, 0.42, and 0.25). The respective correlations for the measurements on the lateral radiographs were r = 0.81, 0.90, and 0.89.(ABSTRACT TRUNCATED AT 400 WORDS)     

Psychoneuroimmunology and its relationship to the differential diagnosis of temporomandibular disorders

Psychoneuroimmunology (PNI) is a field of medicine which joins immunology and neurobiology. It focuses on the relationship of stress upon the hypothalamic-adrenal-pituitary (HPA) axis. Depletion of hormones and neurotransmitters within the HPA-axis, as a result of stress, can lead to a multitude of diseases and disorders. Therefore, it is necessary for the dentist to be familiar with PNI and the HPA-axis in order to make an accurate diagnosis of TMD.     

Prenatal diagnosis of periventricular hemorrhage by fetal brain magnetic resonance imaging

The neonate is unable to relate specific complaints of pain and may not exhibit the usual signs of illness or infection. Septic arthritis of the hip is a surgical emergency in the neonate, and it should be considered in any irritable or ill child who has a high index of suspicion. Prompt diagnosis and immediate treatment are necessary. Nearly all babies undergo routine examination of the hip for dysplasia. It is recognized that limitation of abduction of the hip in the neonate may not represent developmental dysplasia of the hip but may represent other etiologies, such as fracture, infection, congenital anomaly, or tumor. The following case report illustrates the importance of careful clinical evaluation of an apparent asymptomatic neonate.