Yang Lan, Tao Tao, Zhao Xin, Tao Hehua, Su Jingna, Shen Ye, Tang Ye, Qian Fangbo, Xiao Jianping
Department of Prenatal Diagnosis Center, Wuxi Maternal and Child Health Hospital Affiliated to Nanjing Medical University, Wuxi, Jiangsu 214000, P.R. China.
Genesky Diagnostics Inc., Suzhou, Jiangsu 215000, P.R. China.
Exp Ther Med. 2020 Apr;19(4):2505-2510. doi: 10.3892/etm.2020.8524. Epub 2020 Feb 11.
Fetal chromosomal abnormalities are a common cause of spontaneous abortion. The present study investigated the association between fetal chromosomal abnormalities and the frequency of spontaneous abortions to enable clinicians to provide more informed genetic counseling. A total of 182 patients with a history of spontaneous abortions were recruited from July 2015 to August 2017. G-banding cytogenetic analysis and novel high-throughput ligation-dependent probe amplification (HLPA) techniques were performed on conception in all 182 patients to detect chromosomal abnormalities. Low-coverage whole-genome sequencing (WGS) was performed in 74 patients to detect copy number variations (CNVs). There were no significant differences in the incidence of karyotype abnormalities between patients with sporadic miscarriages (48.0%; SM group) and patients suffering recurrent spontaneous abortions (44.8%; RSA group). The maternal age was markedly higher in patients with 3 miscarriages. WGS indicated that the incidence of pathogenic CNVs in the RSA group was higher than that in the SM group, but the difference was not significant. In conclusion, a high incidence of karyotype abnormalities and pathogenic CNVs was observed in patients with spontaneous abortion. However, no association between fetal chromosomal abnormalities and the number of spontaneous abortions was observed. HLPA assays may be used as an alternative method for fetal karyotype analysis and determination of CNVs in patients with SM and RSA.
胎儿染色体异常是自然流产的常见原因。本研究调查了胎儿染色体异常与自然流产频率之间的关联，以便临床医生能够提供更明智的遗传咨询。2015年7月至2017年8月共招募了182例有自然流产史的患者。对所有182例患者在受孕时进行了G显带细胞遗传学分析和新型高通量连接依赖探针扩增（HLPA）技术，以检测染色体异常。对74例患者进行了低覆盖度全基因组测序（WGS），以检测拷贝数变异（CNV）。散发性流产患者（48.0%；SM组）和复发性自然流产患者（44.8%；RSA组）的核型异常发生率无显著差异。有3次流产的患者的母亲年龄明显更高。WGS表明，RSA组中致病性CNV的发生率高于SM组，但差异不显著。总之，在自然流产患者中观察到核型异常和致病性CNV的高发生率。然而，未观察到胎儿染色体异常与自然流产次数之间的关联。HLPA检测可作为胎儿核型分析以及SM和RSA患者CNV测定的替代方法。
