探讨单核苷酸多态性微阵列(SNP-array)技术检测自然流产妊娠产物(POC)，在自然流产病因分析与遗传咨询中的应用价值。

选择2016年5月至2017年7月，于武汉大学人民医院因超声检查提示"胚胎停止发育"，而接受妊娠终止术的143例孕妇为研究对象。对其自然流产POC采用SNP-array技术进行检测，总结POC的染色体异常特点，并采用χ²检验，对POC染色体异常和染色体正常孕妇的预产期年龄构成比(<35岁和≥35岁)进行统计学比较。本研究经武汉大学人民医院伦理委员会批准，所有受试者均签署知情同意书。

①本组143例单胎妊娠孕妇的143例POC标本中，128例标本符合SNP-array技术检测要求，因此SNP-array对POC的检测成功率为89.5%。采取SNP-array对POC进行检测的结果显示，染色体异常率为57.0%(73/128)，包括染色体结构畸变(1p36微缺失)1例(1.4%，1/73)，以及染色体数目异常72例(98.6%，72/73)。②72例染色体数目异常的各类型分布为：二倍体非整倍体中的三体占59.7%(43/72)，单体占18.1%(13/72)，其次为三倍体占13.9%(10/72)，嵌合体占8.3%(6/72)。③自然流产POC检测结果为染色体异常孕妇的预产期年龄<35岁与≥35岁的构成比分别为67.1%(44/73)与32.9%(24/73)，而POC染色体正常孕妇的预产期年龄<35岁与≥35岁的构成比分别为80.0%(44/55)与20.0%(11/55)，二者比较，差异无统计学意义(χ²＝2.618，P＝0.106)。

采取SNP-array技术对自然流产POC染色体异常的检测，可对自然流产原因分析提供依据，对遗传咨询和生育指导亦具有一定作用。

To evaluate the application value of assaying the products of conception (POC) of miscarriage with single nucleotide polymorphism (SNP) array in the etiology analysis and genetic counseling of miscarriage.

A total of 143 pregnant women were chosen as study subjects.They were diagnosed as " embryos stop developing" by ultrasonography and terminated pregnancy from May 2016 to July 2017 in Renmin Hospital of Wuhan University. SNP-array was conducted to test the POC of these pregnant women, and characteristics of the chromosomal abnormalities of POC were summarized. Meanwhile, the constituent ratios of age at expected date of delivery (<35 years old and ≥35 years old) between pregnant women with and without POC chromosomal abnormality was compared by chi-square test. The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Renmin Hospital of Wuhan University.Informed consent was obtained from each participant.

①Among 143 singleton pregnancies, we obtained results of 128 eligible samples which met the requirements of SNP-array testing from 143 samples of POC, and the success rate of SNP-array testing for POC was 89.5%. SNP-array testing of POC showed that the proportion of chromosomal abnormalities was 57.0%(73/128), including 1 case (1.4%, 1/73) of structural abnormality of chromosome (1p36 micro-deletion), and 72 cases (98.6%, 72/73) of numerical abnormalities of chromosome. ②The types distribution of 72 cases of numerical abnormalities of chromosome were 59.7%(43/72) of trisomy, 18.1%(13/72) of monosomy, 13.9%(10/72) of triploidy and 8.3%(6/72) of mosaicism. ③The constituent ratios of age at expected date of delivery of <35 years old and ≥35 years old in pregnant women with POC chromosomal abnormality were 67.1%(49/73) and 32.9%(24/73), respectively, and were 80.0%(44/55) and 20.0%(11/55) in pregnant women without POC chromosomal abnormality, respectively, and there was no significant difference between pregnant women with and without POC chromosomal abnormality (χ²=2.618, P=0.106).

SNP-array testing for detecting the chromosomal abnormalities of POC from miscarriage can provide a basis of miscarriage etiology analysis, and also play a certain role in clinical genetic counselling and future pregnancy planning.