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 Malforma-tions
栗倩 1田亚楠 1李强 1于鹏 2徐姗姗 3王立4
作者信息
- 1. 253000 山东德州,山东大学齐鲁医院德州医院妇产科彩超室
- 2. 253000 山东德州,山东大学齐鲁医院德州医院产科
- 3. 253000 山东德州,山东大学齐鲁医院德州医院检验科
- 4. 253000 山东德州,山东大学齐鲁医院德州医院产前诊断科
- 折叠
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.
Abstract
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 retrospec-tively analyzed.The prenatal diagnosis results of CMA with different NT thickness and the status quo of structural malforma-tions were compared,and the prenatal diagnosis results of CMA were divided into structural malformation group and non-struc-tural 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 fol-low-up of pregnancy outcomes.The induction rate(52.17%,12/23),pediatric hospitalization rate(100.00%,8/8),still-birth rate(13.04%,3/23)and preterm birth rate(75.00%,6/8)of the fetus with NT thickening and structural malforma-tion 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 preg-nancy outcome are increased in fetuses with NT thickening and structural malformation.It is recommended to perform CMA in the meantime,which is conducive to the detection of chromosomal numerical abnormality,microdeletion,and micro-duplica-tion,thus providing relevant basis for clinical genetic counseling and treatment.
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Key words
Nuchal transparency/Congenital abnormalities/Chromosome microarray analysis/Prenatal diagnosis/Chromosome aberrations/Fetal diseases/Pregnancy outcome引用本文复制引用
基金项目
山东省医学会项目(YXH2022ZX06298)
出版年
2024
国家科技期刊平台
NSTL
万方数据