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Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■16号染色体的近9.89%由分段重复组成，这使得它容易发生非同源重组。本研究旨在探讨16号染色体亚显微畸变在产前诊断中的发生率和围产期特征。
■对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例连续胎儿进行了回顾。16号染色体亚显微异常占染色体核型正常胎儿亚显微异常的11.1%(15/134),比任何其他染色体异常的百分比都要大。在14例中发现了16号染色体的15个亚显微异常；其中12个有超声异常。它们被归类为致病性(N=7)，和不确定显著性的变体(N=8)。七个具有不确定意义的变体的胎儿终止于活产，其余的终止妊娠。
■16号染色体的亚显微畸变是产前诊断中常见的发现，强调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重复综合征的表型。
■对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例连续胎儿进行了回顾。16号染色体亚显微异常占染色体核型正常胎儿亚显微异常的11.1%(15/134),比任何其他染色体异常的百分比都要大。在14例中发现了16号染色体的15个亚显微异常；其中12个有超声异常。它们被归类为致病性(N=7)，和不确定显著性的变体(N=8)。七个具有不确定意义的变体的胎儿终止于活产，其余的终止妊娠。
■16号染色体的亚显微畸变是产前诊断中常见的发现，强调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重复综合征的表型。
