Department of the Prenatal Diagnosis Center, Fujian Maternity and Child Health Hospital, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
J Cell Mol Med. 2021 Jun;25(12):5721-5728. doi: 10.1111/jcmm.16588. Epub 2021 May 10.
Single nucleotide polymorphism (SNP) array and karyotype analyses were conducted on 441 spontaneous miscarriage placental villous tissues collected from women from southern China. Subsequently, the results from these two analyses were compared to evaluate the best diagnostic strategy for subsequent pre-pregnancy planning. Here, the success rate of genetic testing using karyotyping and SNP array analysis was 78.46% (346/441) and 100.0% (441/441), respectively. The abnormality rate estimated by both methods was 54.9% (242/441). Three hundred and forty-six cases were successfully detected via both SNP array and karyotype analyses; the rate of consistent detection was 96.24% (333/346), whereas 13 cases were not consistent. There was no substantial positive correlation between age and genetic abnormalities such as Turner syndrome, structural variation or euploidy state in the different age groups studied. However, the aneuploidy rate was significantly different in each age group. Thus, although SNP array has higher success rate and resolution in genetic abnormality detection, supplementary karyotype analysis is needed for a more accurate revelation of the genetic aetiology of miscarriages. Therefore, this study indicates that simultaneous karyotype and SNP array analyses should be performed for spontaneous miscarriages. Furthermore, miscarriages irrespective of maternal age must be genetically analysed.
对来自中国南方的 441 例自然流产胎盘绒毛组织进行了单核苷酸多态性 (SNP) 阵列和核型分析。随后，将这两种分析的结果进行比较，以评估后续孕前规划的最佳诊断策略。在这里，核型分析和 SNP 阵列分析的基因检测成功率分别为 78.46%（346/441）和 100.0%（441/441）。两种方法估计的异常率均为 54.9%（242/441）。通过 SNP 阵列和核型分析成功检测到 346 例；一致检测率为 96.24%（333/346），而 13 例不一致。在研究的不同年龄组中，年龄与特纳综合征、结构变异或整倍体状态等遗传异常之间没有明显的正相关。然而，各年龄组的非整倍体率存在显著差异。因此，尽管 SNP 阵列在检测遗传异常方面具有更高的成功率和分辨率，但需要进行补充核型分析，以更准确地揭示流产的遗传病因。因此，本研究表明，对于自然流产应同时进行核型和 SNP 阵列分析。此外，无论产妇年龄大小，都必须对流产进行遗传分析。
