Li Zhouzhou, Fu Fang, Lei Tingying, Li Ru, Jing Xiangyi, Yang Xin, Han Jin, Pan Min, Zhen Li, Liao Can
Institute of Perinatology and Birth Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):576-582. doi: 10.3760/cma.j.issn.1003-9406.2017.04.024.
To assess the value of genome-wide high-resolution chromosomal microarray analysis (CMA) for the delineation of pathogenesis for fetal ventriculomegaly diagnosed by ultrasound or magnetic resonance imaging (MRI).
Three hundred and forty-one cases of fetal ventriculomegaly were collected. The samples were grouped based on the extent of lateral ventricular dilatation, presence of additional features, site of occurrence, and the maternal age. All samples were subjected to karyotyping analysis. For those with a normal karyotype, DNA was extracted and hybridized with an Affymetrix CytoScan HD array. All cases were followed up.
Among the 341 fetuses, 21 (6.2%) were detected with an abnormal karyotype. For the 320 cases with a normal karyotype, 179 (55.9%) have accepted CMA analysis. Potentially pathogenic CNVs were identified in 12 (6.7%) of the 179 cases, whose sizes ranged from 198 kb to 8.71 Mb. These included a 1q21.3q23.1 deletion, a 2q37.3 deletion, a 3p14.1p13 deletion, a 6q25.3 deletion, a 8q11.23 duplication, a 10q21.1 deletion, a 15q11.2 deletion and a 16p13.11p12.3 duplication, a 22q13.33 duplication, a 22q11.21 duplication and a Xp21.1 duplication (Duchenne muscular dystrophy). Pathogenic CNVs were detected respectively in 7.5% and 3.1% of those with mild and severe ventriculomegaly (P=0.615), in 6.1% and 7.4% of those with isolated and non-isolated ventriculomegaly (P=0.732), in 5.6% and 7.9% of those with unilateral and bilateral ventriculomegaly (P=0.511), and in 6.7% of both elderly and non-elderly groups (P=1.000).
The detection rate for abnormal karyotypes among fetuses with ventriculomegaly was 6.2%. CMA can increase the detection rate by approximately 6.7%. There was no significant correlation between ventriculomegaly and presence of pathogenic CNVs. In clinical practice, fetuses with ventriculomegaly and a normal karyotype should be considered for CMA analysis.
评估全基因组高分辨率染色体微阵列分析（CMA）在明确经超声或磁共振成像（MRI）诊断的胎儿脑室扩大发病机制中的价值。
收集341例胎儿脑室扩大病例。根据侧脑室扩张程度、是否存在其他特征、发病部位及母亲年龄对样本进行分组。所有样本均进行核型分析。对于核型正常者，提取DNA并与Affymetrix CytoScan HD芯片杂交。对所有病例进行随访。
341例胎儿中，21例（6.2%）检测到核型异常。320例核型正常者中，179例（55.9%）接受了CMA分析。179例中的12例（6.7%）检测到潜在致病性拷贝数变异（CNV），其大小范围为198 kb至8.71 Mb。这些变异包括1q21.3q23.1缺失、2q37.3缺失、3p14.1p13缺失、6q25.3缺失、8q11.23重复、10q21.1缺失、15q11.2缺失、16p13.11p12.3重复、22q13.33重复、22q11.21重复及Xp21.1重复（杜氏肌营养不良）。轻度和重度脑室扩大者中致病性CNV的检出率分别为7.5%和3.1%（P = 0.615）；孤立性和非孤立性脑室扩大者中分别为6.1%和7.4%（P = 0.732）；单侧和双侧脑室扩大者中分别为5.6%和7.9%（P = 0.511）；老年组和非老年组均为6.7%（P = 1.000）。
脑室扩大胎儿的核型异常检出率为6.2%。CMA可使检出率提高约6.7%。脑室扩大与致病性CNV的存在之间无显著相关性。在临床实践中，对于脑室扩大且核型正常的胎儿应考虑进行CMA分析。
