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首页> 外文期刊>Molecular cytogenetics >Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature
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Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

机译：SNP阵列CRI-du-Chat综合征的产前诊断：十二个案例报告和文学审查

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Background:Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS is difficult due to the non-specific ultrasound features. And reports using array analysis are rare. This study presented the first retrospective analysis of prenatal series of CdCS fetuses diagnosed by single nucleotide polymorphism (SNP) array in China.Case presentation:A total of 35,233 pregnant women were enrolled from Jan 2014 to April 2019 in our center, there are twelve 5p- cases with abnormal sonographic signs revealed by SNP array, giving an incidence of 0.034% (12/35,233). Clinical information and molecular basis included: maternal demographics, indications for invasive testing, sonographic findings and SNP array results. Among all the 5p- cases revealed, nine cases were diagnosed by both karyotyping and SNP array, three cases were detected only by SNP array. Half of our cases (6/12) had an isolated 5p terminal deletion, which sizes ranged from 9.0?Mb to 30?Mb. The other half of cases (6/12) characterized by unbalanced translocation, with sex ratio 7:5 (female: male), when combine the clinical features observed from this study and available literature, the most frequent anomaly observed in prenatal ultrasound examination of CdCS was cerebral abnormalities, accounted for 44.4% (16/36) of the existing cases. Features that are less consistent included: choroid plexus cyst (13.8%, 5/36), single umbilical artery (13.3%, 4/30), ventricular septal defect (11.1%, 4/36), hydrops fetalis (8.3%, 3/36), ascites (8.3%, 3/36), increased NT/NF (8.3%, 3/36), absent/severely hypoplastic nasal bone (5.5%, 2/36), in order.Conclusion:Prenatal findings such as cerebral abnormalities, absent/hypoplastic nasal bone, hydrops fetalis, ascites or encephalocele may act as suggestive signs of CdCS or other microdeletion/duplication syndromes. Combining typical karyotyping with chromosomal microarray analysis (CMA) is a definitive method for a precise diagnosis of CdCS and provides more accurate results in order to offer genetic counseling to families which need to deal with cryptic aberrations.? The Author(s). 2019.
机译：背景：CRI-Du-Chous综合征（CDC; OMIM＃123450）是一种由染色体5P末端缺失（5P-）引起的经典连续的基因综合征，其特征在于高倾斜的猫般的哭泣，发育延迟，严重的精神运动，初学者延迟，婴儿期的疑风特征。由于非特异性超声特征，CDC的产前诊断难以。使用阵列分析的报告很少见。本研究介绍了在中国单一核苷酸多态性（SNP）阵列诊断出的产前系列CDCS胎儿的第一次回顾性分析。CASE介绍：共有35,233名孕妇于2014年1月至2019年4月在我们的中心注册，有十二个5P - SNP阵列显示异子图标志的异常超声迹象，发病率为0.034％（12 / 35,233）。临床信息和分子基础包括：孕产妇人口统计，侵入性测试的适应症，超声波调查结果和SNP阵列结果。在揭示的所有5P例中，核型分类和SNP阵列诊断出9例，仅通过SNP阵列检测到三种情况。我们的一半案例（6/12）具有孤立的5P端子缺失，其尺寸为9.0？MB至30？MB。其他一半的病例（6/12）以不平衡的易位为特征，性别比例7：5（女性：男性），当结合本研究观察到的临床特征和可用文献时，产前超声检查中最常见的异常观察到CDCS是脑异常，占现有案件的44.4％（16/36）。含量不一致的特点：脉络膜丛囊肿（13.8％，5/36），单脐动脉（13.3％，4/30），心室隔膜缺损（11.1％，4/36），Hyperops fetalis（8.3％，3 / 36），腹水（8.3％，3/36），NT / NF增加（8.3％，3/36），不存在/严重的假膜鼻骨（5.5％，2/36），顺序。结论：产前发现作为脑异常，缺席/囊肿鼻骨，水合物胎儿，腹水或脑癌可以充当CDC或其他微缺发/复制综合征的暗示迹象。将典型的核型与染色体微阵列分析（CMA）组合是一种确定CDC的精确诊断的明确方法，并提供更准确的结果，以便为需要处理隐秘性畸变的家庭提供遗传咨询。作者。 2019年。

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