Waller Kendra, Chaithongwongwatthana Surasith, Yamasmit Waralak, Donnenfeld Alan E
Genzyme Genetics, Dallas, TX, USA.
Genet Med. 2005 Jul-Aug;7(6):417-21. doi: 10.1097/01.gim.0000170774.86075.12.
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.
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.
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).
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.
确定产前诊断为胸腔积液的胎儿染色体异常的患病率，并确定与非整倍体风险增加相关的因素。
对1994年10月至2003年4月提交的、提示胎儿胸腔积液的Genzyme Genetics数据库样本进行回顾性分析。
有246个样本中胸腔积液被确定为产前染色体分析的指征。94个样本来自单纯胸腔积液的胎儿，152个样本除胸腔积液外还有其他异常。染色体异常的患病率为35.4%（95%置信区间，29.2 - 41.4%）。在8个孕早期样本中，非整倍体率为63%。与其他超声检查结果相关的胸腔积液病例的非整倍体率显著高于单纯胸腔积液病例（50%对12%，P < 0.001）。
产前检测到胎儿胸腔积液后有必要进行染色体分析。孕早期检测时非整倍体风险更高，且在存在其他相关异常时显著增加。
