Background Nearly 9.89% of chromosome 16 consists of segmental duplications, which makes it prone to non-homologous recombination. The present study aimed to investigate the incidence and perinatal characteristics of submicroscopic chromosome 16 aberrations in prenatal diagnosis. Results A total of 2,414 consecutive fetuses that underwent prenatal chromosomal microarray analysis (CMA) between January 2016 and December 2018 were reviewed. Submicroscopic anomalies of chromosome 16 accounted for 11.1% (15/134) of all submicroscopic anomalies detected in fetuses with normal karyotype, which was larger than the percentage of anomalies in any other chromosome. The 15 submicroscopic anomalies of chromosome 16 were identified in 14 cases; 12 of them had ultrasound abnormalities. They were classified as pathogenic (N = 7), and variants of uncertain significance (N = 8). Seven fetuses with variants of uncertain significance were ended in live-born, and the remaining were end in pregnancy termination. Conclusion Submicroscopic aberrations of chromosome 16 are frequent findings in prenatal diagnosis, which emphasize the challenge of genetic counseling and the value of CMA. Prenatal diagnosis should lead to long-term monitoring of children with such chromosomal abnormalities for better understanding of the phenotype of chromosome 16 microdeletion and microduplication syndromes.

中文翻译：

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产前诊断中16号染色体的亚显微畸变。

背景 近 9.89% 的 16 号染色体由片段重复组成，这使其易于发生非同源重组。本研究旨在探讨产前诊断中16号染色体亚显微畸变的发生率和围产期特征。结果 回顾了 2016 年 1 月至 2018 年 12 月期间接受产前染色体微阵列分析 (CMA) 的 2,414 个连续胎儿。16号染色体亚显微异常占正常核型胎儿亚显微异常的11.1%（15/134），高于其他染色体异常的百分比。14例16号染色体亚显微异常15例；其中12人有超声异常。它们被归类为致病性（N = 7），和不确定意义的变体（N = 8）。七个具有不确定意义的变异的胎儿以活产结束，其余的以终止妊娠结束。结论 16号染色体亚显微畸变是产前诊断中的常见发现，凸显了遗传咨询的挑战和CMA的价值。产前诊断应导致对患有此类染色体异常的儿童进行长期监测，以更好地了解 16 号染色体微缺失和微复制综合征的表型。强调遗传咨询的挑战和 CMA 的价值。产前诊断应导致对患有此类染色体异常的儿童进行长期监测，以更好地了解 16 号染色体微缺失和微复制综合征的表型。强调遗传咨询的挑战和 CMA 的价值。产前诊断应导致对患有此类染色体异常的儿童进行长期监测，以更好地了解 16 号染色体微缺失和微复制综合征的表型。