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Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: An analysis of 709,030 births in 12 European countries
被引:175
作者:
Wiesel, A
Queisser-Luft, A
Clementi, M
Bianca, S
Stoll, C
机构:
[1] Univ Mainz, Childrens Hosp, Birth Registry Mainz Model, D-55101 Mainz, Germany
[2] Univ Padua, Padua, Italy
[3] Registro ISMAC, Catania, Italy
[4] CHU Strasbourg, Serv Genet Med, F-67000 Strasbourg, France
关键词:
renal malformations;
congenital birth defects;
Europe;
fetal ultrasound;
screening;
multicenter study;
prenatal diagnosis;
birth registry;
D O I:
10.1016/j.ejmg.2005.02.003
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
The study was performed to evaluate the prevalence of prenatal ultrasound diagnoses for renal anomalies in 20 registries of 12 European countries, and to compare the different prenatal scanning policies. Standardized data were acquired from 709,030 livebirths, stillbirths, and induced abortions during the study period of 2.5 years and transmitted for central analysis. At least one renal malforruation was diagnosed in 1130 infants and fetuses. Prenatal diagnosis (PD) was given in 81.8% of all cases, 29% of these pregnancies were terminated. The highest detection rate was reported for unilateral multicystic dysplastic kidneys with 97% (102/105). An early diagnosis was documented for exstrophy of bladder at a mean gestational age of 18.5 weeks. Dilatations of the upper urinary tract were seen late in pregnancy at 28.3 weeks. Terminations of pregnancies (TOP) were performed in 67% (58/86) of the detected bilateral renal agenesis/dysgenesis, but only 4% of the unilateral multicystic dysplastic renal malformations (4/102). In about 1/3 of the cases, renal malformations are within the category of associated malformations, which include multiple non-syndromal malformations, chromosomal aberrations, and non-chromosomal syndromes. Renal malformations were detected in 2/3 of the associated category by the first prenatal ultrasound scan. Detection rates vary in the different countries of the European community due to diverse policies, ethical, and religious background. Countries with no routine ultrasound show the lowest rates in detection, and termination of pregnancy. Prenatally detected renal malformations should result in a careful examination for further anomalies. Prenatal ultrasound fulfills the needs of screening examinations and is a good tool in detecting lethal and severe renal malformations. (c) 2005 Elsevier SAS. All rights reserved.
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页码:131 / 144
页数:14
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