Center for Genetic Medicine, Maternity and Child Health Care Hospital, Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Department of Pharmacy, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, Jiangsu, China.
J Matern Fetal Neonatal Med. 2022 Nov;35(22):4404-4411. doi: 10.1080/14767058.2020.1849126. Epub 2020 Nov 23.
The underlying etiologies of pregnancy loss are heterogeneous and in many cases unexplained. This study was to explore the genetic causes of early and late pregnancy loss using chromosomal microarray analysis (CMA).
A cohort of 222 specimens of conceptions underwent genetic analysis using Affymetrix CytoScan 750 K arrays, which includes both SNP markers and copy number markers.
Of the 222-products of conception (POC), the overall detection rate for clinical significantly chromosomal anomalies was 40.54%, including 53 autosomal aneuploidy (23.87%), 16 sex chromosome aneuploidy (7.21%), 5 mutiple aneuploidy (2.25%), 4 triploidy (1.80%), and 12 pathogenic copy number variants (pCNVs) (5.41%). In addition, variants of uncertain significance and loss of heterozygosity were detected in 9 samples and 2 samples, respectively. The detection rates for total chromosomal abnormalities, autosomal aneuploidy, sex chromosome aneuploidy, multiple aneuploidy, and triploidy in specimens of early pregnancy loss was higher than that of late pregnancy loss, while had lower detection rate of pCNVs. Moreover, the detection rate in POC of mothers younger than 35 years was lower than that of advanced maternal age. The detection rate was 40.57% in POC of mothers with adverse pregnancy histories, in which was comparable with that of mothers without adverse pregnancy histories.
CMA yielded a superior detection rate in early pregnancy loss than that of late pregnancy loss. Moreover, the incidence of chromosome abnormality in cases with advanced maternal age was higher than that of cases with younger maternal age, while adverse pregnancy history seemed not to be the factors affecting the detection rate for chromosomal abnormality in pregnancy loss.
妊娠丢失的潜在病因具有异质性，在许多情况下无法解释。本研究旨在通过染色体微阵列分析（CMA）探索早期和晚期妊娠丢失的遗传原因。
对 222 例妊娠产物进行了基因分析，使用的是 Affymetrix CytoScan 750K 阵列，其中包括 SNP 标记和拷贝数标记。
在 222 例妊娠产物（POC）中，临床显著染色体异常的总检出率为 40.54%，包括 53 例常染色体非整倍体（23.87%）、16 例性染色体非整倍体（7.21%）、5 例多倍体（2.25%）、4 例三倍体（1.80%）和 12 例致病性拷贝数变异（pCNVs）（5.41%）。此外，在 9 例和 2 例样本中分别检测到意义不明的变异和杂合性丢失。早期妊娠丢失标本的总染色体异常、常染色体非整倍体、性染色体非整倍体、多倍体和三倍体的检出率均高于晚期妊娠丢失，而 pCNVs 的检出率较低。此外，年龄小于 35 岁的母亲的 POC 检出率低于高龄产妇。有不良妊娠史的 POC 的检出率为 40.57%，与无不良妊娠史的母亲相当。
CMA 对早期妊娠丢失的检出率优于晚期妊娠丢失。此外，高龄产妇染色体异常的发生率高于年轻产妇，而不良妊娠史似乎不是影响妊娠丢失染色体异常检出率的因素。
