Article

[Role of "subtle" ultrasonographic signs during antenatal screening for trisomy 21 during the second trimester of pregnancy: meta-analysis and CPDPN protocol of the Grenoble University Hospital].

Centre Pluridisciplinaire de Diagnostic Prénatal, CHU de Grenoble, BP 217, 38043 Grenoble Cedex 09.
Journal de Gynécologie Obstétrique et Biologie de la Reproduction (Impact Factor: 0.45). 06/2005; 34(3 Pt 1):215-31.
Source: PubMed

ABSTRACT A meta-analysis about subtle ultrasonographic signs in second trimester of pregnancy.
196 articles dealing with the subject--from 1985 to July 2002--were studied. Data on the 11 reported signs were collected from 92 theoretically and/or statistically valid studies. Then, the studies were selected according to several criteria: isolated characteristic, defined thresholds, calculable sensitivity and specificity. After checking for homogeneity, a likelihood ratio was calculated for some of the signs.
This meta-analysis of the second trimester ultrasonographic signs of Down's syndrome enabled us to estimate the likelihood ratio (LHR) of six signs. At 22 weeks'gestation (WG) these signs are: pyelectasis equal to or greater than 5 mm; nuchal fold thickness equal to or greater than 6 mm; persistence of choroid plexus cysts; shortness of the femur and humerus below the tenth percentile; hyperechogenic bowe; and nasal bone length less than 2.5 mm.
These validated ultrasonographic signs are independent of nuchal translucency thickness at 12 WG and of maternal serum biochemistry. This allows to calculate a combinate risk for nuchal translucency, maternal serum biochemistry and second trimester ultrasonographic signs when they are validated.

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    ABSTRACT: To determine the association between second trimester ultrasound findings (genetic sonogram) and the risk of Down syndrome. Prospective population-based cohort study of women who were at increased risk of chromosome abnormality based on serum screening. Overall 9244 women with singleton pregnancies were included, including 245 whose fetuses had Down syndrome. Overall, 15.3% of the women had an abnormal genetic sonogram, including 14.2% of pregnancies with normal fetuses and 53.1% of those with Down syndrome. If the genetic sonogram were normal, the risk that a woman had a fetus with Down syndrome was reduced (likelihood ratio 0.55 [95% CI 0.49, 0.62]) However, if the normal genetic sonogram were used to counsel these high-risk women that they could avoid amniocentesis, approximately half of the cases of Down syndrome (115 of 245) would have been missed. The isolated ultrasound soft markers were the most commonly observed abnormality. These were seen in a high proportion of Down syndrome fetuses (13.9%) and normal fetuses (9.3%). In the absence of a structural anomaly, the isolated ultrasound soft markers of choroid plexus cyst, echogenic bowel, renal pyelectasis, clenched hands, clinodactyly, two-vessel umbilical cord, short femur, and short humerus were not associated with Down syndrome. Nuchal fold thickening was a notable exception, as a thick nuchal fold raised the risk of Down syndrome even when it was seen without an associated structural anomaly. All women included in this study were at high risk of Down syndrome based on serum screening, and thus the results of this study cannot be used as a basis to modify maternal age-related risk. The accuracy of the genetic sonogram is less than previously reported. The genetic sonogram should not be used as a sequential test following serum biochemistry, as this would substantially reduce the prenatal diagnosis of Down syndrome cases. In contrast to prior reports, most isolated soft markers were not associated with Down syndrome.
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