Department of Clinical Laboratory, Affiliated Hospital of Jining Medical University, Jining, Shandong, China.
Department of Obstetrics, Affiliated Hospital of Jining Medical University, Jining, Shandong, China.
PeerJ. 2023 Jan 17;11:e14678. doi: 10.7717/peerj.14678. eCollection 2023.
Invasive prenatal evaluation by chromosomal microarray analysis (CMA) and karyotyping might represent an important option in pregnant women, but limited reports have applied CMA and karyotyping of fetuses conceived by assisted reproductive technology (ART). This study aimed to examine the value of CMA and karyotyping in prenatal diagnosis after ART.
This retrospective study included all singleton fetuses conceived by ART from January 2015 to December 2021. Anomalies prenatally diagnosed based on karyotyping and CMA were analyzed. Prevalence rates for various CMA and karyotyping results were stratified based on specific testing indications including isolated-and non-isolated ART groups. The rates of CMA findings with clinical significance (pathogenic/likely pathogenic) and karyotype anomalies were assessed and compared to those of local control individuals with naturally conceived pregnancies and without medical indications.
In total, 224 subjects were assessed by karyotyping and CMA. In the examined patients, chromosomal and karyotype abnormality rates were 3.57% (8/224) and 8.93% (20/224), respectively. This finding indicated a 5.35% (12/224)-incremental rate of abnormal CMA was obtained over karyotype analysis ( = 0.019). The risk of CMA with pathogenic findings for all pregnancies conceived by ART (5.80%, 13/224) was markedly elevated in comparison with the background value obtained in control individuals (1.47%, 9/612; = 0.001). In addition, risk of CMA with clinically pathogenic results in isolated ART groups was significant higher compared to the background risk reported in the control cohort ( = 0.037).
Prenatal diagnosis including karyotyping and CMA is recommended for fetuses conceived by ART, with or without ultrasound findings.
通过染色体微阵列分析（CMA）和核型分析进行侵袭性产前评估可能是孕妇的一个重要选择，但有限的报告应用了 CMA 和辅助生殖技术（ART）受孕胎儿的核型分析。本研究旨在探讨 CMA 和核型分析在 ART 后产前诊断中的价值。
本回顾性研究纳入了 2015 年 1 月至 2021 年 12 月期间所有由 ART 受孕的单胎胎儿。分析了基于核型和 CMA 产前诊断的异常。根据特定的检测指征，包括孤立性和非孤立性 ART 组，对各种 CMA 和核型结果的发生率进行分层。评估并比较了具有临床意义（致病性/可能致病性）的 CMA 结果和核型异常的发生率，以及具有自然受孕和无医学指征的本地对照个体的发生率。
共 224 例患者接受了核型和 CMA 检查。在检查的患者中，染色体和核型异常率分别为 3.57%（8/224）和 8.93%（20/224）。这表明 CMA 检测结果异常的发生率比核型分析增加了 5.35%（12/224）（ = 0.019）。所有由 ART 受孕的妊娠 CMA 具有致病性发现的风险（5.80%，13/224）明显高于对照组个体的背景值（1.47%，9/612； = 0.001）。此外，与对照组的背景风险相比，孤立性 ART 组 CMA 具有临床致病性结果的风险显著更高（ = 0.037）。
建议对 ART 受孕的胎儿进行包括核型分析和 CMA 在内的产前诊断，无论是否有超声发现。
