颈项透明层增厚伴或不伴结构畸形胎儿CMA产前诊断及随访结果  

Prenatal Diagnosis and Follow-up Results of CMA in Fetuses with Nuchal Transparency Thickening Combined with or without Structural Malformations

作　　者：栗倩 田亚楠 李强[1] 于鹏 徐姗姗 王立 LI Qian;TIAN Yanan;LI Qiang;YU Peng;XU Shanshan;WANG Li(Color Doppler Room of Obstetrics and Gynecology,Qilu Hospital,Shandong University Dezhou Hospital,Dezhou,Shandong 253000,China;Department of Obstetrics,Qilu Hospital,Shandong University Dezhou Hospital,Dezhou,Shandong 253000,China;Department of Clinical Laboratory,,Qilu Hospital,Shandong University Dezhou Hospital,Dezhou,Shandong 253000,China;Department of Prenatal Diagnosis,Qilu Hospital,Shandong University Dezhou Hospital,Dezhou,Shandong 253000,China)

机构地区：[1]山东大学齐鲁医院德州医院妇产科彩超室,山东德州253000 [2]山东大学齐鲁医院德州医院产科,山东德州253000 [3]山东大学齐鲁医院德州医院检验科,山东德州253000 [4]山东大学齐鲁医院德州医院产前诊断科,山东德州253000

出　　处：《临床误诊误治》2024年第7期72-78,共7页Clinical Misdiagnosis & Mistherapy

基　　金：山东省医学会课题(YXH2022ZX06298)。

摘　　要：目的分析颈项透明层(NT)增厚伴或不伴结构畸形胎儿染色体微阵列分析(CMA)产前诊断结果及随访结果。方法对2019年1月—2023年1月诊治的NT增厚且接受介入性诊断的106例孕妇临床资料进行回顾性分析,比较不同NT厚度CMA产前诊断结果及结构畸形现状,并根据是否伴有结构畸形分为伴结构畸形和不伴结构畸形,统计CMA产前诊断结果,随访其妊娠结局及新生儿情况。结果106例NT增厚胎儿中检出染色体异常21例(19.81%),检出结构畸形23例(21.70%)。不同NT厚度胎儿CMA异常检出率比较差异无统计学意义(P>0.05);不同NT厚度胎儿结构畸形检出率比较差异有统计学意义(P<0.01);NT增厚伴结构畸形胎儿CMA异常检出率(65.22%,15/23)高于不伴结构畸形胎儿(7.23%,6/83)(P<0.01)。共有98例(92.45%)孕妇完成妊娠结局随访。NT增厚伴结构畸形胎儿引产率(52.17%,12/23)、儿科住院率(100.00%,8/8)、死胎率(13.04%,3/23)、早产率(75.00%,6/8)高于不伴结构畸形胎儿[4.00%(3/75)、30.56%(22/72)、0、2.78%(2/72)],活产率(34.78%,8/23)低于不伴结构畸形胎儿(96.00%,72/75)(P<0.01)。结论NT增厚伴结构畸形胎儿染色体异常检出率及不良妊娠结局风险增加,建议同时行CMA检查,有利于发现染色体数目异常、微小缺失、微小重复等异常现象,为临床遗传咨询及处理提供相关依据。Objective To analyze the prenatal diagnosis and follow-up results of chromosome microarray analysis(CMA)of fetuses with or without nuchal transparency(NT)thickening.Methods The clinical data of 106 pregnant women who was diagnosed with NT thickening and received interventional diagnosis from January 2019 to January 2023 were retrospectively analyzed.The prenatal diagnosis results of CMA with different NT thickness and the status quo of structural malformations were compared,and the prenatal diagnosis results of CMA were divided into structural malformation group and non-structural malformation group according to combination of structural malformations.Prenatal diagnosis results were recorded,and pregnancy outcomes and condition of neonates were followed up.Results Chromosome abnormality and structural deformity were detected in 21(19.81%)and 23(21.70%)of 106 fetuses with NT thickening respectively.There was no significant difference in the detection rate of CMA in fetuses with different NT thickness(P>0.05),while significant difference was found in the detection rate of structural malformation in fetuses with different NT thickness(P<0.01).The detection rate of CMA abnormality in fetuses with NT thickening and structural malformation(65.22%,15/23)was higher than that of fetuses without structural malformations(7.23%,6/83)(P<0.01).A total of 98(92.45%)pregnant women completed the follow-up of pregnancy outcomes.The induction rate(52.17%,12/23),pediatric hospitalization rate(100.00%,8/8),stillbirth rate(13.04%,3/23)and preterm birth rate(75.00%,6/8)of the fetus with NT thickening and structural malformation were higher than those of the fetus without structural malformation[(4.00%(3/75),30.56%(22/72),0,2.78%(2/72),respectively).The live birth rate(34.78%,8/23)was lower than that of fetuses without structural malformations(96.00%,72/75)(P<0.01).Conclusion The detection rate of chromosome abnormality and the risk of adverse pregnancy outcome are increased in fetuses with NT thickening and structural malformation.It i

关 键 词：颈项透明层 先天畸形 染色体微阵列分析 产前诊断 染色体畸变 胎儿疾病 妊娠结局 

分 类 号：R715.5[医药卫生—妇产科学]