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Isolated 'mild renal collecting system dilatation' (mild pyelectasis) is a common prenatal sonographic finding. An association between mild pyelectasis and fetal aneuploidy has been established, but in the absence of a concomitant anomaly, mild pyelectasis is usually regarded as benign and of no clinical consequence, and follow-up is often not obtained after the initial ascertainment. To test this, we investigated the relationship between mild pyelectasis and (1) progression to hydronephrosis; (2) postnatal vesicoureteral reflux (VUR); and (3) postnatal surgery. Between 1 January 1992 and 1 January 1995, we performed 453 prenatal sonographic examinations of 306 patients with mild fetal pyelectasis and no other anomalies. During the course of a routine sonographic examination, we performed a detailed evaluation of the fetal genitourinary tract, Mild pyelectasis was defined as a pelvocalyceal fluid-filled space with the smallest of two transverse perpendicular sonographic measurements of > or = 4 mm and < 10 mm. Hydronephrosis was defined similarly, but with a measurement of > or = 10 mm. Postnatal urological assessment was obtained with routine renal ultrasonography, and voiding cystourethrography (VCUG), measurement of 99mTc-labelled diethylenetriamine pentaacetic acid (DPTA) mercaptacetyltriglycerine (MAG3), and intravenous pyelogram, as necessary. After exclusion criteria were applied, 294 (96%) patients with isolated fetal pyelectasis were considered. A total of 251 (82%) of these were followed with ultrasonography prenatally and during the postnatal period. Two or more prenatal examinations were carried out in 129 patients (51%) and in 35 (27%) of these cases the biometry progressed to frank hydronephrosis (> 10 mm). In only six (5%) of the cases followed prenatally did the measurement diminish to < 4 mm. We found a greater variability in prenatal renal biometry throughout gestation in infants found to have VUR, when compared with those who had no VUR. On postnatal follow-up, 84 patients had VCUG. Sixteen of these patients (6% of all patients [16/251] and 19% [16/84] of those who had the test) were found to have an abnormal finding. Whereas the prenatal appearance of mild pyelectasis improved in only a small number of cases, we found that it progressed to hydronephrosis in 27% of cases. Postnatal evaluation found VUR to be common in apparent uncomplicated mild prenatal pyelectasis. Although postnatal surgery was necessary in only a small number of cases, surgical intervention was necessary in 33% (four of 12) of those with VUR.

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Objective. A multicenter study was undertaken to evaluate the diagnostic efficacy of a genetic sonogram. Methods. Eight centers provided data on 176 pregnancies complicated by fetal Down syndrome. One hundred thirty-four pregnancies were considered high risk because of advanced maternal age (>35 years), and 42 were considered high risk for having "abnormal" triple-screen results (risk >1:250). Each center provided fetal biometric data, information regarding the presence or absence of major structural abnormalities, and between 3 and 6 additional ultrasonographic markers for trisomy 21. The heterogeneity of our 8 independent "sensitivity estimates" was evaluated by Poisson regression, and a single combined estimate of the sensitivity was calculated. Results. Of the total 176 cases of trisomy 21, 125 fetuses (71.0%) had either an abnormal long bone length (femur length, humerus length, or both), a major structural abnormality, or a Down syndrome marker. The combined diagnostic sensitivity was 71.6%, with a range of 63.6% (7 of 11) to 80% (8 of 10). Five centers had sensitivity estimates falling between 64% and 76%. The sensitivity of individual markers varied between 3% (sandal gap) and 46.5% (nuchal skin fold thickness). A condensed regimen of nuchal skin fold thickness, femur length, and a standard anatomic survey would screen in 56.8% of fetuses with Down syndrome. Conclusions. This 8-center study that included many fetuses with Down syndrome validates the concept that the genetic sonogram can be used to better adjust the Down syndrome risk for high-risk patients.

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