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Uncertain Prognosis (uncertain + prognosis)
Selected AbstractsEthylene glycol intoxication misdiagnosed as eclampsiaACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 3 2006I. Kralova Ethylene glycol intoxication is one of the most serious acute poisonings with very uncertain prognosis with regard to both recovery and survival. A case report is presented in which a woman who was admitted for the termination of pregnancy by Caesarean section with a diagnosis of eclampsia turned out to be severely intoxicated by ethylene glycol. [source] Prenatal diagnosis of agenesis of corpus callosum: what is the neurodevelopmental outcome?PEDIATRICS INTERNATIONAL, Issue 3 2006PISANI FRANCESCO Abstract Background: Corpus callosum is the largest cerebral commissure that connects neocortical areas. Agenesis of corpus callosum (ACC) can be partial or complete, isolated or associated with other malformations. Its prenatal diagnosis creates problems within parental counselling due to its uncertain prognosis. The aim of this study was to correlate the neurodevelopmental outcome with both the clinical picture and the neuroradiological features, in order to improve prenatal parental counselling in a group of nine children with ACC, prenatally diagnosed by ultrasound and then confirmed by postnatal magnetic resonance imaging (MRI). Methods: In all patients, cerebral ultrasound scans, electroencephalogram (EEG) examinations, cerebral MRI, cytogenetic analysis, general physical evaluation, neurological examination and neuropsychological assessment (Griffiths Scale, Wechsler Primary and Preschool Scale of Intelligence, Wechsler Intelligence Scale for Children) were carried out. Results: In six patients the callosal agenesis was isolated, while in 3/9 it was associated with other cerebral malformations. Children with isolated callosal agenesis were asymptomatic or presented a mild hypotonia and the EEG was normal in five of them. All children with other associated brain malformations presented epilepsy, poor psychomotor development and cerebral palsy. Conclusion: The prenatal suspicion of ACC needs an accurate diagnostic approach, in order to well determine its isolated or associated nature, linked to different neurodevelopmental outcome. [source] Trends in elective terminations of pregnancy between 1989 and 2000 in a French county (the Isère)PRENATAL DIAGNOSIS, Issue 11 2003P. Guillem Abstract Objectives This study was performed in order to provide a description of indications for induced elective terminations of pregnancy (ETOP), their characteristics (e.g. gestational age), and their evolution over time. Design of the Study This is an epidemiological study. The geographic area covered is the French county of ,Isère', which represents a mean of 14 000 births per year over the study period. Materials and Methods Data on ETOPs were collected actively from medical records by a register of childhood deficiencies and adverse perinatal events in this county. Between 1989 and 2000, 996 ETOPs were notified. Results Four main grounds for ETOPs were identified: (1) morphological anomalies with normal karyotype (39%), (2) chromosomal anomalies (35%), (3) other fetal grounds (16%), and (4) maternal indications (10%). Prevalence rates for the first two grounds increased significantly over the study period respectively from 2.0 to 2.9 and from 1.4 to 2.7 per 1000. Among the ETOPs carried out because of fetal indications, the percentage of late ETOPs (from 24 weeks of gestation) was 34.6%, and remained stable over the studied period. In some cases, a medical consensus was not reached with respect to indications for termination (sex chromosome anomalies, limb defects). We estimated the percentage of these cases as being 2.7% of the figure for fetal indications, without any variation in prevalence over the whole period (p = 0.59). The increasing number of ETOPs that occurred in the chromosomal aberrations group during the study period is thought to be due to an increase in diagnostic sensitivity. The increase that occurred in the morphological anomalies group is thought to be due both to an increase in sensitivity and to a widening of the field with respect to indications, some of which have an uncertain prognosis (e.g. agenesis of the corpus callosum). Conclusion This study provides useful data for monitoring medical practice consistency within the field of prenatal diagnosis, and for the drive to keep medical practice within ethically acceptable limits. Copyright © 2003 John Wiley & Sons, Ltd. [source] Prenatal findings on ultrasound and X-ray in a case of overgrowth syndrome associated with increased nuchal translucencyPRENATAL DIAGNOSIS, Issue 5 2001P. Schwärzler Abstract A case of prenatal diagnosis of an overgrowth syndrome at 30 weeks of gestation is reported. The diagnosis was suggested on the basis of increased fetal growth from 16 weeks onwards, advanced bone age, and characteristic facial features such as hypertelorism, broad forehead and small chin. The fetus presented at 12 weeks with a markedly increased nuchal translucency thickness and generalized skin edema, but normal karyotype. Serial ultrasound scans revealed brain abnormalities including mild unilateral ventriculomegaly and a cyst in the cavum septi pellucidi. The pregnancy was terminated at the parents' request at 32 weeks of gestation and postmortem examination confirmed the prenatal findings. This case demonstrates the possibility of prenatal diagnosis of early overgrowth syndromes and highlights the dilemma arising from the prenatal diagnosis of a non-lethal condition associated with an uncertain prognosis and poorly documented in utero. Copyright © 2001 John Wiley & Sons, Ltd. [source] The future of prenatal diagnosis: rapid testing or full karyotype?BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 10 2005An audit of chromosome abnormalities, pregnancy outcomes for women referred for Down's Syndrome testing Objective To assess the implications of a change in prenatal diagnosis policy from full karyotype analysis to rapid trisomy testing for women referred primarily for increased risk of Down's Syndrome. Design Retrospective collection and review of data. Setting The four London Regional Genetics Centres. Population Pregnant women (32,674) in the London area having invasive prenatal diagnosis during a six-year three-month period. Methods Abnormal karyotypes and total number of samples referred for raised maternal age, raised risk of Down's Syndrome following serum screening or maternal anxiety were collected. Abnormal karyotypes detected by molecular trisomy detection were removed, leaving cases with residual abnormal karyotypes. These were assessed for their clinical significance. Pregnancy outcomes were ascertained by reviewing patient notes or by contacting obstetricians or general practioners. Main outcome measures Proportion of prenatal samples with abnormal karyotypes that would not have been detected by rapid trisomy testing, and the outcome of those pregnancies with abnormal karyotypes. Results Results from 32,674 samples were identified, of which 24,891 (76.2%) were from women referred primarily for Down's Syndrome testing. There were 118/24,891 (0.47%) abnormal sex chromosome karyotypes. Of the samples with autosomal abnormalities that would not be detected by rapid trisomy testing, 153/24,891 (0.61%) were in pregnancies referred primarily for Down's Syndrome testing. Of these, 98 (0.39%) had a good prognosis (46/98 liveborn, 3/98 terminations, 1/98 intrauterine death, 1/98 miscarriage, 47/98 not ascertained); 37 (0.15%) had an uncertain prognosis (20/37 liveborn, 5/37 terminations; 12/37 not ascertained) and 18 (0.07%) had a poor prognosis (1/18 liveborn, 2/18 miscarriage, 11/18 terminations, 4/18 not ascertained). Conclusions For pregnant women with a raised risk of Down's Syndrome, a change of policy from full karyotype analysis to rapid trisomy testing would result in the failure to detect chromosome abnormalities likely to have serious clinical significance in approximately 0.06% (1 in 1659) cases. However, it should be noted that this figure may be higher (up to 0.12%; 1 in 833) if there were fetal abnormalities in some of the pregnancies in the uncertain prognosis group for which outcome information was not available. [source] | ||||||||||