Department of Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Gulou, Fuzhou, 350001, Fujian Province, China.
Reproductive Medicine Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China.
Sci Rep. 2021 Mar 5;11(1):5291. doi: 10.1038/s41598-021-83147-7.
Etiopathogenesis of fetal ventriculomegaly is poorly understood. Associations between fetal isolated ventriculomegaly and copy number variations (CNVs) have been previously described. We investigated the correlations between fetal ventriculomegaly-with or without other ultrasound anomalies-and chromosome abnormalities. 222 fetuses were divided into four groups: (I) 103 (46.4%) cases with isolated ventriculomegaly, (II) 41 (18.5%) cases accompanied by soft markers, (III) 33 (14.9%) cases complicated with central nervous system (CNS) anomalies, and (IV) 45 (20.3%) cases with accompanying anomalies. Karyotyping and single nucleotide polymorphism (SNP) array were used in parallel. Karyotype abnormalities were identified in 15/222 (6.8%) cases. Karyotype abnormalities in group I, II, III, and IV were 4/103 (3.9%), 2/41 (4.9%), 4/33 (12.1%), and 5/45 (11.1%), respectively. Concerning the SNP array analysis results, 31/222 (14.0%) were CNVs, CNVs in groups I, II, III, and IV were 11/103 (10.7%), 6/41 (14.6%), 9/33 (27.3%), and 5/45 fetuses (11.1%), respectively. Detections of clinical significant CNVs were higher in non-isolated ventriculomegaly than in isolated ventriculomegaly (16.81% vs 10.7%, P = 0.19). SNP arrays can effectively identify CNVs in fetuses with ventriculomegaly and increase the abnormal chromosomal detection rate by approximately 7.2%, especially ventriculomegaly accompanied by CNS anomalies.
胎儿脑室扩张的病因和发病机制尚不清楚。先前已经描述了胎儿孤立性脑室扩张与拷贝数变异（CNVs）之间的关联。我们研究了胎儿脑室扩张（伴有或不伴有其他超声异常）与染色体异常之间的相关性。222 例胎儿分为四组：（I）103 例（46.4%）孤立性脑室扩张，（II）41 例（18.5%）伴有软标记，（III）33 例（14.9%）伴有中枢神经系统（CNS）异常，（IV）45 例（20.3%）伴有其他异常。我们同时使用核型分析和单核苷酸多态性（SNP）微阵列技术。在 222 例中发现 15 例（6.8%）核型异常。I、II、III 和 IV 组的核型异常分别为 4/103（3.9%）、2/41（4.9%）、4/33（12.1%）和 5/45（11.1%）。关于 SNP 微阵列分析结果，31 例（14.0%）为 CNVs，I、II、III 和 IV 组的 CNVs 分别为 11/103（10.7%）、6/41（14.6%）、9/33（27.3%）和 5/45（11.1%）。非孤立性脑室扩张胎儿中临床意义显著的 CNVs 检出率高于孤立性脑室扩张胎儿（16.81%比 10.7%，P=0.19）。SNP 微阵列技术可以有效地识别脑室扩张胎儿的 CNVs，将异常染色体的检出率提高约 7.2%，尤其是伴有 CNS 异常的脑室扩张胎儿。
