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

The enormous progress witnessed in the field of prenatal diagnosis during the past two decades is likely to continue into the future. Improved imaging techniques are likely to enhance the resolution of noninvasively obtained fetal images considerably over their current excellent quality. Although this undoubtedly will be true for ultrasonography, the increased speed of magnetic resonance equipment may offer a new realm of imaging possibilities. Computerized image processing, analysis, and three-dimensional reconstructions all should make interpretation of fetal images easier and more understandable to the nonspecialist. Advances in molecular genetics will continue to accelerate, greatly expanding the range and accuracy of prenatal diagnosis. The alert pediatrician who is sensitive to genetic issues may, by early detection of pediatric disorders and careful family history assessment, be in a position to identify families at risk for serious genetic conditions and provide the opportunity to make informed decisions on reproductive options that avert a major tragedy. The pediatrician, working with obstetric colleagues, should be part of a team effort to support families going through prenatal testing. Familiarity with these rapidly changing technologies will make it far easier to support the family needing additional explanation about prenatal diagnosis issues.     

Prenatal diagnosis of diastematomyelia

The long-term follow-up (from age 6 to 20 years) of a girl with Gitelman's syndrome, who had four hypomagnesaemic-tetanic episodes associated with normal plasma calcium, hypokalemia and hypocalciuria, is presented. During and after puberty, hypomagnesaemia was of the order of 0.41-0.49 mmol/l and plasma potassium was at the lower reference limit. The long-term clinical course and growth of this patient appeared good, but, magnesium supplementation reduces the risk of tetanic crises.     

Prenatal diagnosis of fucosidosis

A pregnancy from a family at risk for fucosidosis was monitored. Determinations of fucosidase and mannosidase were performed on the serum and white blood cells of several members of the family, om amniotic fluid and amniotic fluid cells of the fetus at several passages, and on fibroblast cell lines from index cases. The fetus was diagnosed as being free from the disease. This conclusion was confirmed after birth by fucosidase determination in plasma and white cells from cord blood, and in the placenta. Fluctuations in fucosidase activity were observed in extracts from cultured amniotic cells at various passages. The possible causes of this variability are discussed.     

Prenatal diagnosis: methods--indications--risks

The demands made on prenatal care in terms of fetal anomaly recognition and full and early counseling have become more and more sophisticated over the last few years. Today, a range of non-invasive and invasive procedures are now available for the detection of fetal anomalies, genetic disorders and e.g. infection. The most important of the former are ultrasound and triple test (determination of alpha feto-protein, HCG and unconjugated estriol), while amniocentesis remains the major invasive measure. The indications, the information they provide, and possible risks of these procedures are discussed.     

Management of a short femur discovered via ultrasound in utero. Prenatal diagnosis of Stuve-Wiedemann syndrome

BACKGROUND: Malignant mesothelioma reportedly shows different epidemiology and pathology in females, and a proportion are believed to arise spontaneously. METHODS: One hundred and seventy seven cases of malignant mesothelioma in females were reviewed, examined by histochemistry and immunohistochemistry, assessed for asbestosis and lung fibre burden by transmission electron microscopy with energy dispersive x ray analysis, and compared with 31 female controls. RESULTS: Two of one hundred and three cases tested for carcinoembryonic antigen were positive and were excluded from further analysis. Tumour cases showed increased amphibole burdens; in those in whom exposure information was known, 74 (80%) of 93 patients had a history of exposure to asbestos. Seventy two (47%) of 152 patients had lung fibrosis. Tumour site and histological type were little different from those reported in adult males. Mixed type histological pattern, lung fibrosis, and peritoneal site were associated with heavier lung asbestos burdens, but not exclusively. Thirty five (30%) of 117 patients had amphibole burdens of less than 2 x 10(6) fibres/g; the sites affected and the histological pattern of tumours in this group were similar to those in cases with amphibole fibre counts of > or = 2 x 10(6)/g lung. A higher lung amphibole burden than the mean burden in control females was found in 115 (98%) of 117 patients tested. CONCLUSIONS: The pathology of malignant mesothelioma appears to be similar in women and in men, and in cases associated and unassociated with asbestos.     

Prenatal diagnosis of Apert syndrome

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mother and son in whom one of the two mutations in AS had occurred sporadically in the mother. The diagnosed of AS was based on associated abnormal physical features and on molecular genetic analysis. A C-to-G transversion at position 937 of the cDNA resulting in a proline-to-arginine substitution at codon 259 was found in the mother. In her second pregnancy, prenatal diagnosis by both restriction analysis and direct sequencing was undertaken and this showed that the female fetus had not inherited the mutation.     

Prenatal diagnosis with ultrasound of anomalous course of the umbilical vein and its relationship to fetal outcome

Diagnosis of three types of anomalous course of the umbilical vein (UV) was made in 10 cases using antenatal ultrasound (US). Pulsed wave (PW) Doppler ultrasound was used to evaluate the UV in all cases. In one case, the UV was directly joining the superior vena cava (SVC) without forming subcutaneous collaterals, an abnormal course of UV not yet reported previously. Of these ten fetuses, six had various associated anomalies, including three fetuses with central nervous system (CNS) abnormalities.     

Prenatal diagnosis of pyruvate kinase deficiency

Prenatal testing for pyruvate kinase deficiency is often requested by parents who already have an affected child. However, before the development of molecular biologic techniques there were no suitable diagnostic methods. We present here two cases in which the diagnosis was established, one using amniotic fluid cells, the other cord blood. Two different approaches were used. The first, using a direct method of PCR amplification and restriction endonuclease analysis, detected mutations in fetus genomic DNA. The second method, using two polymorphic sites linked to the PKRL gene, enabled us to establish which chromosome had been inherited from each parent.     

Prenatal sonographic diagnosis of nasal malformations

OBJECTIVE: To induce tumor regression with immunotherapy and to characterize the histology. SETTING: National Institute of Cancerology, Mexico City, Mexico. PATIENTS: Thirteen patients with advanced squamous cell carcinoma of the head and neck region. INTERVENTION: A 21-day cycle of preoperative immunotherapy, including a single intravenous infusion of low-dose cyclophosphamide (300 mg/M2), 10 daily perilymphatic injections of a natural cytokine mixture (approximately 150 units interleukin-2 equivalence by enzyme-linked immunosorbent assay), daily oral indomethacin, and daily oral zinc with multivitamins. OUTCOME MEASURES: Pretreatment biopsies were performed to confirm the diagnosis and to characterize the lesion by standard pathologic criteria, including the degree of tumor-associated lymphocytes. Clinical responses were assessed at surgery, and the specimen was analyzed with respect to changes in tumor morphology and lymphoid and inflammatory infiltration (T and B lymphocytes, plasma cells, macrophages, granulocytes, and giant cells). The presurgical and postsurgical characteristics were ascribed percentages based on a representative section. RESULTS: Prior to treatment, on average the biopsies demonstrated 77% solid tumor with 14% stroma and 9% sparse infiltration of lymphocytes. After treatment, one patient had a complete clinical response and showed only residual inflammatory cells and fibrosis. One patient had no clinical or histologic response. Of the remaining 11 patients, 4 had partial, 6 had minor, and 1 had no response. Tumors were reduced an average of 41% (16% solid and 25% fragmented) and lymphoid infiltration increased to 45% without change in residual stroma. CONCLUSIONS: The pathologic changes viewed in the context of the clinical findings indicate that this immunotherapy protocol induces immune regression of the tumor, mediated predominantly by T and B lymphocytes, and thus elicits a tumor-specific immune reaction.     

Prenatal diagnosis of congenital cytomegalovirus infection

We report here the results of a study on the prenatal diagnosis of congenital cytomegalovirus (CMV) infection. The study was carried out by both PCR and virus isolation from amniotic fluid (AF) for 82 pregnant women at risk of transmitting CMV for the detection of (i) seroconversion to CMV immunoglobulin G (IgG) positivity during the first trimester of pregnancy, (ii) symptomatic CMV infection in the mother during the first trimester of pregnancy or intrauterine growth retardation detected by ultrasound or abnormal ultrasonographic findings suggestive of fetal infections, and (iii) seropositivity for CMV-specific IgM. For 50 women, fetal blood (FB) was also obtained and tests for antigenemia and PCR were performed. The results indicate that AF is better than FB for the prenatal diagnosis of CMV infection. PCR with AF has a sensitivity (SNS) of 100%, a specificity (SPE) of 83.3%, a positive predictive value (PPV) of 40%, and a negative predictive value (NPV) of 100%; rapid virus isolation with the same material has an SNS of 50%, an SPE of 100%, a PPV of 100%, and an NPV of 94.7%. Fewer than 10% of the women positive for IgM by enzyme immunoassay (EIA) had a congenitally infected fetus or newborn infant. When EIA IgM positivity was confirmed by Western blotting (WB) and the WB profile was considered, the percent transmission detected among women with an "at-risk" profile was higher than that observed among IgM-positive women and was the same as that among women who seroconverted during the first trimester of pregnancy (transmission rates of 29 and 25%, respectively).