Gezer C, Ekin A, Ozeren M, Taner C E, Ozer O, Koc A, Bilgin M, Gezer N S
Department of Perinatology, Izmir Tepecik Training and Research Hospital , İzmir , Turkey.
J Obstet Gynaecol. 2014 Jul;34(5):387-91. doi: 10.3109/01443615.2014.896885. Epub 2014 Mar 28.
Ventriculomegaly (VM) is a marker of aneuploidy and warrants a detailed examination of fetal anatomy. Chromosomal abnormalities worsen the fetal and neonatal prognosis significantly and karyotyping of fetuses is critically important when accompanying anomalies are detected. Here, we report the genetic results of 140 fetuses with isolated and non-isolated VM detected during a second trimester ultrasound examination followed by invasive in utero diagnostic procedures for karyotyping. VM was diagnosed in seven (5%) fetuses with abnormal karyotype and the chromosomal abnormality incidence was higher in severe VM (6.8%) than mild (4.2%). Higher chromosomal abnormality rates were detected when VM was isolated (8.6%), rather than associated with any anomaly (3.8%). These results suggest that karyotype analysis should be offered to all patients with any degree of VM, regardless of its association with structural anomalies.
脑室扩大（VM）是染色体非整倍性的一个标志物，需要对胎儿解剖结构进行详细检查。染色体异常会显著恶化胎儿和新生儿的预后，当检测到伴有其他异常时，对胎儿进行核型分析至关重要。在此，我们报告了140例在孕中期超声检查时检测出孤立性和非孤立性VM的胎儿的基因检测结果，随后对这些胎儿进行了宫内侵入性诊断程序以进行核型分析。7例（5%）核型异常的胎儿被诊断为VM，重度VM的染色体异常发生率（6.8%）高于轻度VM（4.2%）。当VM为孤立性时（8.6%），检测到的染色体异常率高于与任何异常相关时（3.8%）。这些结果表明，对于所有有任何程度VM的患者，无论其是否与结构异常相关，都应进行核型分析。
