In hospitalized preeclamptic patients, the random urinary protein-to-creatinine ratio at a cutoff of > or = 0.25 revealed a highly accurate prediction of significant proteinuria and could be a more practical alternative for assessment of proteinuria.
Purpose: To determine the prevalence of chromosomal abnormalities in fetuses with prenatally diagnosed pleural effusions and to identify factors associated with an increased risk of aneuploidy. Methods: A retrospective analysis of the Genzyme Genetics database was performed for samples submitted from October 1994 to April 2003 with an indication of fetal pleural effusion. Results: There were 246 samples in which pleural effusion was identified as an indication for prenatal chromosome analysis. Ninety-four were from fetuses with isolated pleural effusions and 152 had other abnormalities in addition to pleural effusion. The prevalence of chromosome abnormalities was 35.4% (95% confidence interval, 29.2-41.4%). Among the eight first trimester samples, the aneuploidy rate was 63%. Pleural effusion cases associated with additional sonographic findings had a significantly higher aneuploidy rate than the isolated pleural effusion cases (50% vs. 12%, P Ͻ 0.001). Conclusions: Chromosome analysis is warranted after the prenatal detection of a fetal pleural effusion. The risk of aneuploidy is greater with first trimester detection and is significantly increased in the presence of other associated anomalies. Genet Med 2005:7(6):
417-421.
Key Words: pleural effusion, hydrops, aneuploidy, prenatal diagnosis, Turner syndromeFetal pleural effusions may occur as an isolated finding or in association with other abnormalities such as fetal hydrops, lung tumors, cardiac anomalies, arrhythmias, and other congenital defects. Primary pleural effusions are most often chylous and constitute the majority of isolated fetal pleural effusions. Secondary effusions most commonly result from nonimmune hydrops. The incidence of fetal pleural effusion has been estimated to be one in 15,000 pregnancies. 1,2 However, a recent prospective study performed in low-risk obstetric cases at 7 to 10 weeks gestation showed that fetal pleural effusion may be found in as high as 1.2% of all pregnancies. 3 The association of aneuploidy with prenatally diagnosed fetal pleural effusion is well known. 2,4,5 In these reports, aneuploidy rates for second and third trimester fetuses with pleural effusions have ranged from 3.2% to 5.8%. The risk of aneuploidy with first trimester diagnosis of pleural effusion is significantly greater. Hashimoto et al. identified chromosome abnormalities in 9 of 11 (82%) first trimester embryos and fetuses with pleural effusions. 3 Most series of prenatally diagnosed pleural effusions involve relatively small numbers of cases. A direct comparison of the aneuploidy rate between fetuses with isolated pleural effusions and those with other congenital anomalies or significant ultrasound findings has not, to our knowledge, been previously performed. This information may be valuable in providing genetic counseling and prognostic information to couples with a fetus prenatally diagnosed with a pleural effusion. We present our data involving the chromosome analysis of 246 fetuses with pleural effusions detected on prenatal ultrasonography to ...
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