Li Hui, Yao Yanyi, Zhang Chengcheng, Qin Yayun, Zeng Ling, Song Jieping, Lu Li, Wang Wei, Liu Lijun
Medical Genetic Center, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Department of Ultrasonography, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Front Genet. 2023 Aug 24;14:1170720. doi: 10.3389/fgene.2023.1170720. eCollection 2023.
To investigate the chromosome abnormalities associated with absent or hypoplastic fetal nasal bone. Patients with fetal nasal bone anomalies (NBA) referred to our center for prenatal diagnosis between 2017 and 2021 were retrospectively evaluated. All these patients underwent chromosomal microarray and/or karyotyping and received genetic counseling before and after testing. Among 320 fetuses with NBA, chromosomal abnormalities were diagnosed in 89 (27.8%) cases, including 53 cases of trisomy 21, which was the most common type of chromosomal aneuploidy, accounting for 59.6% of all detected abnormalities. In addition to aneuploidies, 29 cases of copy number variants (CNVs) were detected. In cases of isolated NBA with low-risk screening results and without other risk factors, the incidence of fetal chromosomal aneuploidies and pathogenic CNVs is 5.3% (7 in 132 cases). This study suggests that parents of fetuses should be informed about the possibility of fetal aneuploidy and pathogenic CNVs and that discussion with the parents is also recommended, providing data support and reference for clinical counseling.
为研究与胎儿鼻骨缺失或发育不全相关的染色体异常情况。对2017年至2021年间因胎儿鼻骨异常（NBA）转诊至本中心进行产前诊断的患者进行回顾性评估。所有这些患者均接受了染色体微阵列和/或核型分析，并在检测前后接受了遗传咨询。在320例患有NBA的胎儿中，89例（27.8%）被诊断出染色体异常，其中53例为21三体，这是最常见的染色体非整倍体类型，占所有检测到的异常的59.6%。除了非整倍体，还检测到29例拷贝数变异（CNV）。在筛查结果为低风险且无其他危险因素的孤立性NBA病例中，胎儿染色体非整倍体和致病性CNV的发生率为5.3%（132例中有7例）。本研究表明，应告知胎儿父母胎儿非整倍体和致病性CNV的可能性，同时建议与父母进行讨论，为临床咨询提供数据支持和参考。
