Qin Lili, Liu Datong, Wang Xuanyi, Xia Yu, Sun Meiling, Chen Huizi
Department of Obstetrics and Gynecology, Rizhao People's Hospital, Rizhao, Shandong, China.
Clinical Medicine School, Jining Medical College, Jining, Shandong, China.
Br J Hosp Med (Lond). 2024 Dec 30;85(12):1-21. doi: 10.12968/hmed.2024.0475. Epub 2024 Dec 23.
Prenatal diagnosis is a crucial tool in reducing birth defects. Research indicates that whole-exome sequencing (WES) is particularly effective for detecting abnormalities associated with structural ultrasound findings. This study aimed to evaluate the utility of WES in the genetic diagnosis of prenatal ultrasound abnormalities. A total of 50 pregnant women with prenatal ultrasound abnormalities, diagnosed at Rizhao People's Hospital between January 2023 and May 2024, were enrolled. Amniocytes, abortion tissues, and peripheral blood samples from the couples were collected for family-based WES. WES revealed genetic abnormalities in 20 out of 50 cases, resulting in a detection rate of 40%. The detection rates for specific abnormalities were as follows: skeletal abnormalities (41.7%), cardiovascular abnormalities (54.5%), central nervous system abnormalities (30%), urinary system abnormalities (50%), nuchal translucency thickening/hygroma colli (20%), and facial anomalies/cleft lip and palate (25%). The genetic detection rates for monosystemic and multisystemic abnormalities were 34.2% and 50%, respectively. WES is crucial in the genetic diagnosis of prenatal ultrasound abnormalities, enhancing the accuracy of prenatal diagnostics and facilitating informed genetic counseling.
产前诊断是降低出生缺陷的关键工具。研究表明，全外显子组测序（WES）在检测与结构超声检查结果相关的异常方面特别有效。本研究旨在评估WES在产前超声异常基因诊断中的效用。纳入了2023年1月至2024年5月在日照市人民医院诊断为产前超声异常的50名孕妇。收集羊水细胞、流产组织以及夫妇双方的外周血样本用于基于家系的WES。WES在50例病例中发现了20例基因异常，检出率为40%。特定异常的检出率如下：骨骼异常（41.7%）、心血管异常（54.5%）、中枢神经系统异常（30%）、泌尿系统异常（50%）、颈项透明层增厚/颈部水囊瘤（20%）以及面部畸形/唇腭裂（25%）。单系统和多系统异常的基因检出率分别为34.2%和50%。WES在产前超声异常的基因诊断中至关重要，提高了产前诊断的准确性并促进了知情的遗传咨询。
