Objective-To evaluate screening for abnormalities of the fetal renal tract by ultrasonography and to determine the incidence of such abnormalities in a population.Design-A 12 month prospective population study. Foliow up of infants to between 9 and 18 months.Setting-A district general hospital. Participants-6292 Pregnant women reaching 28 weeks' gestation within the study period.Interventions-Antenatal ultrasound scanning was offered to all of the women. Babies in whom an abnormality of the renal tract had been detected antenatally underwent ultrasound scanning at the end of the first week. If the abnormality was confirmed contrast radiography was performed.End point-Confirmation of suspected renal abnormality by postnatal investigations. Detection of abnormality in children thought to be normal antenatally.Measurements and main results-Of the 92 babies who had abnormal antenatal scans, 42 had abnormalities confirmed postnatally. Four of them died and 21 had had or were awaiting an operation at 18 months' follow up. Seven children had renal abnormalities that were missed antenataliy. The incidence of abnormalities detected by screening antenatally was 0-65%, and the overall incidence at 18 months' follow up was 076%.Conclusions-The incidence of structural renal abnormalities in babies is higher than reported previously. Antenatal ultrasonography is an effective way of detecting such abnormalities.
D‐2‐Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the existence of a disease entity related to the biochemical finding. An international survey of patients with D‐2‐hydroxyglutaric aciduria was initiated to solve this issue. The clinical history, neuroimaging, and biochemical findings of 17 patients were studied. Ten of the patients had a severe early‐infantile‐onset encephalopathy characterized by epilepsy, hypotonia, cerebral visual failure, and little development. Five of these patients had a cardiomyopathy. In neuroimaging, all patients had a mild ventriculomegaly, often enlarged frontal subarachnoid spaces and subdural effusions, and always signs of delayed cerebral maturation. In all patients who underwent neuroimaging before 6 months, subependymal cysts over the head or corpus of the caudate nucleus were noted. Seven patients had a much milder and variable clinical picture, most often characterized by mental retardation, hypotonia, and macrocephaly, but sometimes no related clinical problems. Neuroimaging findings in 3 patients variably showed delayed cerebral maturation, ventriculomegaly, or subependymal cysts. Biochemical findings included elevations of D‐2‐hydroxyglutaric acid in urine, plasma, and cerebrospinal fluid in both groups. Cerebrospinal fluid γ‐aminobutyric acid was elevated in almost all patients investigated. Urinary citric acid cycle intermediates were variably elevated. The conclusion of the study is that D‐2‐hydroxyglutaric aciduria is a distinct neurometabolic disorder with at least two phenotypes. Ann Neurol 1999;45:111–119
Objective-To evaluate screening for abnormalities of the fetal renal tract by ultrasonography and to determine the incidence of such abnormalities in a population.Design-A 12 month prospective population study. Foliow up of infants to between 9 and 18 months.Setting-A district general hospital. Participants-6292 Pregnant women reaching 28 weeks' gestation within the study period.Interventions-Antenatal ultrasound scanning was offered to all of the women. Babies in whom an abnormality of the renal tract had been detected antenatally underwent ultrasound scanning at the end of the first week. If the abnormality was confirmed contrast radiography was performed.End point-Confirmation of suspected renal abnormality by postnatal investigations. Detection of abnormality in children thought to be normal antenatally.Measurements and main results-Of the 92 babies who had abnormal antenatal scans, 42 had abnormalities confirmed postnatally. Four of them died and 21 had had or were awaiting an operation at 18 months' follow up. Seven children had renal abnormalities that were missed antenataliy. The incidence of abnormalities detected by screening antenatally was 0-65%, and the overall incidence at 18 months' follow up was 076%.Conclusions-The incidence of structural renal abnormalities in babies is higher than reported previously. Antenatal ultrasonography is an effective way of detecting such abnormalities.
Over three years all infants in this hospital found to have an abnormality of the urinary tract on antenatal scanning were followed up after delivery with contrast radiography. Disease of the renal tract was confirmed in 17 of 20 infants. Of the 15 survivors, 12 underwent surgery in the first year of life.
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