Chromosomal abnormalities among 246 fetuses with pleural effusions detected on prenatal ultrasound examination: factors associated with an increased risk of aneuploidy.
OBJECTIVE
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 < 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.
Waller
Kendra
K
Genzyme Genetics, Dallas, TX, USA.
Chaithongwongwatthana
Surasith
S
Yamasmit
Waralak
W
Donnenfeld
Alan E
AE
D000649:Amniocentesis; D000782:Aneuploidy; D002869:Chromosome Aberrations; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D010996:Pleural Effusion / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D018566:Pregnancy, High-Risk; D012307:Risk Factors; D016216:Ultrasonography, Prenatal