怀孕
流产
早孕损失
单核苷酸多态性
概念产品
SNP阵列
反复流产
医学
SNP公司
产科
膨胀的
基因检测
微阵列
生物
遗传学
流产
基因
基因型
材料科学
复合材料
基因表达
抗压强度
作者
Jenna Finley,Sara Hay,Jeannine Oldzej,Matthew M. Meredith,Natasa Dzidic,Rima Slim,Swaroop Aradhya,Karine Hovanes,Trilochan Sahoo
标识
DOI:10.1016/j.rbmo.2022.03.014
摘要
What is the genetic cause of sporadic and recurrent pregnancy loss and does the frequency and nature of chromosomal abnormalities play a role? Types and frequency of all identifiable chromosomal abnormalities were determined to inform our understanding, medical management and recurrence risk for patients experiencing pregnancy loss.Genome-wide single-nucleotide polymorphism-based chromosomal microarray (SNP-CMA) were used to evaluate 24,900 products of conception samples from various forms of pregnancy losses.Sporadic miscarriage (64.7%) or recurrent pregnancy loss (RPL) (22%) were the most common referrals. Clinically significant abnormalities were observed in 55.8% (13,910) of samples, variants of uncertain significance in 1.8%, and normal results in 42.4%. In addition to autosomal trisomies (in 36% of samples), polyploidy and large segmental imbalances were identified in 7.8% and 2.8% of samples, respectively. Analysis of sequential samples from 1103 patients who had experienced RPL provided important insight into possible predispositions to RPL.This expansive chromosomal microarray analyses of pregnancy loss samples illuminates our understanding of the full spectrum, relative frequencies and the role of genomic abnormalities in pregnancy loss. The empiric observations described here provide useful insight for clinicians and highlight the importance of high-resolution genomic testing for comprehensive evaluation and risk assessment of individuals experiencing pregnancy loss.
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