【摘要】 目的 评估颈项透明层（NT）增厚胎儿的染色体异常风险，探讨NT 2.5～2.9 mm作为产前诊断指征的必要性。方法 回顾性分析2016年1月—2021年6月因NT≥2.5 mm在广西妇幼保健院进行产前诊断的2 779例胎儿染色体结果及NT值为2.5～2.9 mm胎儿的妊娠结局。根据NT值将胎儿分为4组：A组（2.5～2.9 mm）555例、B组（3.0～3.4 mm）1 026例、C组（3.5～3.9 mm）440例和D组（≥4.0 mm）758例。结果 2779例病例中共检出非整倍体606例、三倍体2例、拷贝数变异（CNV）173例。4组中检出的非整倍体分别为45例（8.11%）、137例（13.35%）、87例（19.77%）和337例（44.46%），检出率随NT厚度的增加而升高；检出的CNV分别为23例（4.14%）、61例（5.95%）、31例（7.05%）和58例（7.65%）。A组中孤立性NT、合并超声软指标及合并结构畸形病例的非整倍体分别为22例（4.55%）、14例（28.57%）和9例（40.91%），差异有统计学意义（χ~2=67.553,P<0.001）;CNV分别为20例（4.13%）、2例（4.08%）和1例（4.55%），差异无统计学意义（P>0.05）。结论 当NT为2.5～2.9 mm时，胎儿存在染色体异常的风险较高，为降低出生缺陷，建议进行产前诊断，检测染色体核型和CNV。更多还原

【Abstract】 Objective To estimate the risk of chromosomal abnormalities in cases of fetal nuchal translucency(NT)and explore the necessity of NT from 2. 5 to 2. 9 mm as an indication for prenatal diagnosis. Methods A retrospective analysis was conducted on chromosome-tested results of 2 779 fetuses diagnosed with NT≥ 2. 5 mm from January 2016 to June2021 at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. And follow up on the pregnancy outcome of fetuses with NT values ranging from 2. 5 to 2. 9 mm. The fetuses were divided into four groups according to different NT values:A(2. 5-2. 9 mm)555 cases,B(3. 0-3. 4 mm)1 026 cases,C(3. 5-3. 9 mm)440 cases,and D（≥4. 0 mm）758 cases. Results Among 2 779 cases,606 of aneuploidy and 2 of triploid were detected;173 of copy number variation(CNV)were detected. The aneuploidy in groups A,B,C,and D were 45 cases(8. 11%),137 cases(13. 35%),87 cases(19. 77%),and 337 cases(44. 46%),respectively;The risk of aneuploidy increased with the increase of NT value. And the CNV were 23 cases(4. 14%),61 cases(5. 95%),31 cases(7. 05%)and 58 cases(7. 65%),respectively. In Group A,the aneuploidy in the cases of increased NT isolated,increased NT with soft marks,and increased NT with structural abnormalities were 22 cases(4. 55%),14 cases(28. 57%),and 9 cases(40. 91%),respectively. The difference was statistically significant（χ~2 = 67. 553,P<0. 001）. And the CNV were 20cases(4. 13%),2 cases(4. 08%),and 1 cases(4. 55%),respectively. The differences weren’ t statistically significant. Conclusion When the NT value is between 2. 5-2. 9 mm,the risk of chromosomal abnormalities in the fetus is still high. Prenatal diagnosis should be recommended,testing the fetal chromosome karyotype and CNV,in order to reduce the birth defects.更多还原