Li Shuyuan, Shi Yiru, Han Xu, Chen Yiyao, Shen Yinghua, Hu Wenjing, Zhao Xinrong, Wang Yanlin
The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.
Front Genet. 2022 May 16;13:876887. doi: 10.3389/fgene.2022.876887. eCollection 2022.
Chromosomal mosaicism (CM) is a common biological phenomenon observed in humans. It is one of the main challenges in prenatal diagnosis due to uncertain outcomes, especially when fetal ultrasonographic features appear normal. This study aimed to assess the phenotypic features of CM detected during prenatal diagnosis and the risk factors affecting parents' pregnancy decisions. A retrospective cohort study involving 18,374 consecutive pregnancies that underwent prenatal diagnosis by karyotyping, fluorescence hybridization (FISH), or chromosome microarray analysis (CMA) was conducted. The association of risk factors with malformations detected by ultrasound and pregnancy outcomes was assessed using the chi-square test and binary logistic regression. Discordant results between the different methods were identified and further analyzed. During this five-year period, 118 (0.6%) patients were diagnosed with CM. The incidences of CM in the chorionic villus, amniotic fluid, and umbilical cord blood were 3.2, 0.5, and 0.7%, respectively. The frequency of ultrasound malformations in individuals with a high fraction of autosomal CM was significantly higher than that in other groups (62.5% vs. 21.4-33.3%, all <0.05). Inconsistent results between karyotyping and CMA/FISH were observed in 23 cases (19.5%). The risk of pregnancy termination in cases with ultrasound malformations, consistent results, autosomal CM, or a high CM fraction increased with an odds ratio of 3.09, 8.35, 2.30, and 7.62 (all <0.05). Multiple regression analysis revealed that all four factors were independent risk factors for the termination of pregnancy. Patients with a high fraction of autosomal CM are more likely to have ultrasound malformations. Inconsistent results between different methods in CM are not rare. Ultrasound malformations, consistent results between different methods, autosomal CM, and a high CM fraction were independent risk factors for the choice to terminate pregnancies.
染色体嵌合体（CM）是在人类中观察到的一种常见生物学现象。由于结果不确定，它是产前诊断中的主要挑战之一，尤其是当胎儿超声特征看起来正常时。本研究旨在评估产前诊断期间检测到的CM的表型特征以及影响父母妊娠决策的风险因素。进行了一项回顾性队列研究，涉及18374例连续妊娠，这些妊娠通过核型分析、荧光原位杂交（FISH）或染色体微阵列分析（CMA）进行产前诊断。使用卡方检验和二元逻辑回归评估风险因素与超声检测到的畸形及妊娠结局之间的关联。识别并进一步分析了不同方法之间的不一致结果。在这五年期间，118例（0.6%）患者被诊断为CM。绒毛膜绒毛、羊水和脐带血中CM的发生率分别为3.2%、0.5%和0.7%。常染色体CM比例高的个体中超声畸形的发生率显著高于其他组（62.5%对21.4 - 33.3%，均P<0.05）。在23例（19.5%）中观察到核型分析与CMA/FISH之间的结果不一致。超声畸形、结果一致、常染色体CM或CM比例高的病例中终止妊娠的风险增加，比值比分别为3.09、8.35、2.30和7.62（均P<0.05）。多元回归分析显示，所有这四个因素都是终止妊娠的独立风险因素。常染色体CM比例高的患者更有可能出现超声畸形。CM中不同方法之间的不一致结果并不罕见。超声畸形、不同方法之间结果一致、常染色体CM和CM比例高是终止妊娠选择的独立风险因素。
