Vo Tuan M, Hoang Ngoc T, Nguyen Toan T, Tran Hoang, Trinh Huong N
Obstetrics and Gynecology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, VNM.
Diagnostic Radiology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, VNM.
Cureus. 2024 Oct 23;16(10):e72235. doi: 10.7759/cureus.72235. eCollection 2024 Oct.
Background Previously, fetuses with increased nuchal translucency (NT) were mainly tested for aneuploidy. Recent evidence has shown an incidence of other genetic disorders in euploidy fetuses with thickened NT. Chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) can detect the incremental yield of microdeletions and microduplications (copy number variants (CNVs)) and provide useful information for prenatal counseling. This study aims to determine the frequency of pathogenic CNV (pCNV) and its associated factors in euploidy fetuses with increased NT. Methods This was a retrospective study of 491 fetuses with NT ≥ 3 mm that underwent chorionic villus sampling or amniocentesis and was tested either by CMA or CNV-seq at Tu Du Hospital between August 2020 and January 2022. Results A total of 491 cases with NT ≥ 3 mm were indicated for genetic testing. Among 397 euploidy fetuses, 36 (9.1%) were pCNV, 24 (6.0%) were submicroscopic pCNV (not visible by karyotyping), and 25 (6.3%) were variants of unknown significance (VUS). The most common pCNV were 22q11 duplication and 16p11.2-p12.2 deletion. The incidence of pCNV in fetuses with increased NT and other structural abnormalities was significantly higher than in fetuses with isolated increased NT in the first trimester (OR 3.75, 95% CI 1.79-7.86, p < 0.001). Maternal age and the thickness of NT were not associated with an increased risk of harboring pCNV. Conclusion CMA or CNV-seq can detect the incremental yield of pCNV in euploidy fetuses with increased NT to assist in more accurate prenatal counselling.
背景 此前，颈部透明带（NT）增厚的胎儿主要接受非整倍体检测。最近的证据表明，NT增厚的整倍体胎儿中存在其他遗传疾病。染色体微阵列分析（CMA）和下一代测序（NGS）可以检测微缺失和微重复（拷贝数变异（CNV））的增加率，并为产前咨询提供有用信息。本研究旨在确定NT增加的整倍体胎儿中致病性CNV（pCNV）的频率及其相关因素。方法 这是一项对491例NT≥3mm的胎儿进行的回顾性研究，这些胎儿在2020年8月至2022年1月期间在涂都医院接受了绒毛取样或羊膜穿刺术，并通过CMA或CNV测序进行检测。结果 共有491例NT≥3mm的病例被建议进行基因检测。在397例整倍体胎儿中，36例（9.1%）为pCNV，24例（6.0%）为亚显微pCNV（核型分析不可见），25例（6.3%）为意义未明的变异（VUS）。最常见的pCNV是22q11重复和16p11.2-p12.2缺失。NT增加且伴有其他结构异常的胎儿中pCNV的发生率明显高于孕早期单纯NT增加的胎儿（比值比3.75，95%可信区间1.79-7.86，p<0.001）。母亲年龄和NT厚度与携带pCNV的风险增加无关。结论 CMA或CNV测序可以检测NT增加的整倍体胎儿中pCNV的增加率，以协助进行更准确的产前咨询。
