Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
Prenat Diagn. 2019 Aug;39(9):751-757. doi: 10.1002/pd.5497. Epub 2019 Jul 16.
To determine the contribution of chromosomal microarray (CMA) and other advanced genetic tests to the genetic evaluation of fetal pleural effusion (FPE) and to identify parameters that might assist in predicting genetic abnormality.
A retrospective study of FPE cases referred between 2013 and 2018 was conducted. Cases that underwent genetic evaluation were divided into two groups, chromosomally normal and genetically abnormal. The types and prevalence of genetic abnormalities were reported. Clinical and sonographic parameters were compared. Univariate and multivariate analyses were performed to determine an association between different parameters and genetic abnormality.
Sixty-two cases were included in the study. Forty-eight cases were genetically assessed (karyotype, CMA, whole exome sequencing, Noonan panel, or a combination). A clinically significant genetic abnormality was detected in 29.17% (14/48) of cases. Aneuploidy and single gene disorders were found in 78.6% (11/14) and 21.4% (3/14) of abnormal cases. Four additional cases had microdeletion/duplications detected, yet none were of clinical significance. Multivariate analysis indicated that the presence of anomalies was statistically associated with genetic abnormality (95% CI, 1.144-168.2; 0.039).
In our cohort, CMA did not demonstrate an additional clinical yield over karyotyping. The presence of anomalies was independently associated with underlying genetic abnormality.
确定染色体微阵列（CMA）和其他先进遗传测试在胎儿胸腔积液（FPE）遗传评估中的作用，并确定可能有助于预测遗传异常的参数。
对 2013 年至 2018 年间转诊的 FPE 病例进行回顾性研究。接受遗传评估的病例分为染色体正常组和遗传异常组。报告遗传异常的类型和患病率。比较临床和超声参数。进行单变量和多变量分析，以确定不同参数与遗传异常之间的关联。
本研究纳入 62 例病例。48 例进行了基因评估（核型、CMA、全外显子组测序、Noonan 面板或联合）。在 29.17%（14/48）的病例中检测到临床意义重大的遗传异常。在异常病例中，发现非整倍体和单基因疾病分别占 78.6%（11/14）和 21.4%（3/14）。另外 4 例检测到微缺失/重复，但均无临床意义。多变量分析表明，存在异常与遗传异常具有统计学关联（95%CI，1.144-168.2；0.039）。
在我们的队列中，CMA 并未显示出比核型分析更多的临床收益。异常的存在与潜在的遗传异常独立相关。
