单核苷酸多态性微阵列技术联合核型分析在胎儿脉络丛囊肿产前诊断中的临床应用价值  

Clinical application value of single nucleotide polymorphic microarray technique combined with karyotyping in prenatal diagnosis of fetal choroid plexus cyst

作　　者：陈小露 张剑[1] 陈佳燕 王文博 蔡美娇 葛运生 CHEN Xiao-lu;ZHANG Jian;CHEN Jia-yan;WANG Wen-bo;CAI Mei-jiao;GE Yun-sheng(Department of Central Laboratory,Women and Children's Hospital of Xiamen University,Xiamen Municipal Maternal and Child Health Care Hospital,Xiamen,Fujian 361000,China)

机构地区：[1]厦门大学附属妇女儿童医院(厦门市妇幼保健院)中心实验室,福建厦门361000

出　　处：《中国妇幼保健》2023年第20期4003-4007,共5页Maternal and Child Health Care of China

基　　金：福建省厦门市医疗卫生科技计划项目(3502Z20194070)。

摘　　要：目的 探讨单核苷酸多态性微阵列技术(SNP-array)联合染色体核型分析在胎儿脉络丛囊肿产前诊断中的临床应用价值。方法 选取2018年1月—2020年12月在厦门市妇幼保健院超声医学科经产前超声诊断为脉络丛囊肿的407例胎儿,同时进行染色体核型分析和SNP-array检测。结果 407例样本中单独使用核型分析检出染色体异常39例,单独使用SNP-array检出染色体异常66例,两项联合检测检出73例染色体异常,与单项核型分析相比差异有统计学意义(χ^(2)=11.968,P<0.05),与单项SNP-array相比差异无统计学意义(χ^(2)=0.425,P>0.05)。153例单侧脉络丛囊肿和254例双侧脉络丛囊肿样本中,分别检出SNP-array异常28例和45例,两组差异无统计学意义(χ^(2)=0.022,P>0.05);210例孤立性脉络丛囊肿和197例合并其他异常的样本中,检出SNP-array异常27例和46例,两组差异具有统计学意义(χ^(2)=7.604,P<0.05)。结论 SNP-array除可有效检出产前脉络丛囊肿胎儿染色体数目和结构异常外,还可额外检出核型正常的脉络丛囊肿胎儿的染色体微缺失/微重复以及杂合性缺失,结合核型分析可以互补检出染色体平衡易位和倒位,更全面揭示脉络丛囊肿的遗传学病因,科学指导脉络丛囊肿胎儿妊娠选择。Objective To explore the clinical application value of single nucleotide polymorphic microarray technique(SNP-array)combined with karyotyping in prenatal diagnosis of fetal choroid plexus cyst(CPC).Methods A total of 407 fetuses diagnosed as CPC by prenatal ultrasound in Department of Ultrasound of Xiamen Municipal Maternal and Child Health Care Hospital from January 2018 to December 2020 were selected,then chromosomal karyotyping and SNP-array were performed.Results Among 407 cases of CPC,39 cases were found with chromosomal abnormality by chromosomal karyotyping alone,66 cases were found with chromosomal abnormality by SNP-array alone,and 73 cases were found with chromosomal abnormality by chromosomal karyotyping combined with SNP-array,compared with chromosomal karyotyping alone,there was statistically significant difference(x°=11.968,P<0.05),compared with SNP-array alone,there was no statistically significant difference(χ^(2)=0.425,P>0.05).Among 153 cases with unilateral CPC and 254 cases with bilateral CPC,28 cases and 45 cases with abnormal SNP-array result were detected,respectively,there was no statistically significant difference(x?=0.022,P>0.05).Among 210 cases with isolated CPC and 197 cases complicated with other abnormalities,27 cases and 46 cases with abnormal SNParray result were detected,respectively,there was statistically significant difference(χ^(2)=7.604,P<0.05).Conclusion SNP-array can not only effectively detect the aneuploidies and structural abnormalities,but also detect microdeletions/microrepetitions and loss of heterozygosity of CPC fetus.Chromosomal karyotyping can be complementary and has an advantage of detecting chromosome translocation balance and inversion.It can reveal the genetic causes of prenatal CPC more comprehensively via combination of these two technologies to guide clinical counseling of CPC fetuses more scientifically.

关 键 词：单核苷酸多态性微阵列技术 核型分析 脉络丛囊肿 产前诊断 

分 类 号：R715.5[医药卫生—妇产科学]