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背景6%～13%的死产胎儿与遗传异常相关,不过实际比例可能更高。与核型分析不同,微阵列分析无需活体细胞,并能够检测出微小缺失片段及称作拷贝数目变异体的复制片段。方法 “死产研究网络”针对5个地区的死产胎儿进行了基于人口学的调查,并进行标准化尸检及核型分析。采用单核苷酸多态性阵列技术对死产胎儿脐带或者胎组织中至少500 kb的拷贝数目变异体进行检测。将未受影响人群组成的3个数据库中未检测到的3种变异体分为3类:可能为良性组、临床意义不确定组、致病组。我们对比了死产胎儿样本的核型及微阵列分析结果。结果对532例死产胎儿样本的分析中,微阵列分析得到的结果比核型分析要多(87.4%vs.70.5%,P<0.001),并且提供更为有效的遗传异常检测(非整倍体或致病性拷贝数目变异体,8.3%vs.5.8%,P=0.007)。与遗传核型分析相比,对443例产前死产胎儿(8.8%vs.6.5%,P=0.02)和67例先天异常死产胎儿(29.9%vs.19.4%,P=0.008)的微阵列分析发现了更多的遗传异常。与核型分析比较,微阵列在对41.9%的死产胎儿、34.5%的产前死产胎儿和53.8%先天异常死产胎儿的分析中,对遗传性异常的诊断相对增加。结论与核型分析比较,微阵列分析用于遗传学诊断更具有优势。微阵列可做非活组织分析,对先天异常的死产胎儿或无法获得核型结果的病例具有特殊的价值。
Background 6% to 13% of stillbirth fetuses are associated with genetic abnormalities, although the actual proportions may be higher. Unlike karyotyping, microarray analysis eliminates the need for living cells and enables the detection of small deletions and copies of a copy, called copy number variants. Methodology The “Die Research Network” conducted a demographic-based survey of stillbirths in five districts and conducted a standardized autopsy and karyotype analysis. Single nucleotide polymorphism array technology was used to detect copy number variants of at least 500 kb in umbilical cord or fetal tissue of stillbirth fetuses. Three unidentified variants of the three databases of unaffected people were divided into three categories: benign group, clinically indeterminate group, and pathogenic group. We compared the karyotype and microarray analysis of stillbirth fetuses. Results Of the 532 samples of stillbirth fetuses, microarray analysis yielded more results than karyotyping (87.4% vs. 70.5%, P <0.001) and provided a more effective genetic anomaly test (aneuploidy 8.3% vs.5.8%, P = 0.007). Compared with the genetic karyotyping, the micro-level of 443 prenatal and still-fetus fetuses (8.8% vs.6.5%, P = 0.02) and 67 cases of congenital abnormal fetuses (29.9% vs.19.4%, P = 0.008) Array analysis found more genetic abnormalities. In comparison with karyotyping, the microarray showed a relative increase in the diagnosis of hereditary abnormalities in 41.9% of stillbirths, 34.5% of prenatal and postnatal fetuses, and 53.8% of congenital anomalies. Conclusion Compared with karyotype analysis, microarray analysis has more advantages for genetic diagnosis. Microarray can do non-living tissue analysis of the fetus of congenital anomalies stillborn or unable to obtain karyotype results have a special value.