摘要: |
目的:探讨颈部透明层(nuchal translucency,NT)增厚胎儿的染色体异常风险及对NT增厚的胎儿的妊娠结局进行探究。方法:回顾性分析51例孕早期(11-13+6周)超声检查提示胎儿单纯性NT增厚(NT≥2.5mm)行绒毛核型分析检测情况。结果: 51例NT增厚的胎儿共检出染色体异常11例,染色体异常检出率为21.57%(11/51),以21三体4例(7.84%)、18三体3例(5.88%)、45,X 2例(3.92%)、13三体1例(1.96%)、平衡易位1例(1.96%)。2.5mm≤NT<3.5mm组25例,其中染色体异常4例(16.0%);3.5mm≤NT<4.5mm组16例,其中染色体异常4例(25.0%);NT≥4.5mm组10例,其中染色体异常3例(30.0%)。NT越厚,胎儿发生染色体异常的风险越高。终止妊娠10例。结论:孕早期胎儿NT增厚与染色体异常密切相关;NT增厚的程度越大,胎儿发生染色体异常的风险越高。 |
关键词: 孕早期 NT增厚 染色体核型分析 胎儿染色体异常 随访 |
DOI: |
分类号:R714.53 |
基金项目:玉林市科技攻关项目(合同编号:玉市科20201618) |
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Karyotype analysis and follow-up of 51 cases with NT thickening in early pregnancy* |
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Yulin Maternal and Child Health Hospital,China)
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Abstract: |
Objective:: To explore the risk of chromosomal abnormalities in the fetus with thickened nuchal translucency (NT) and the pregnancy outcome of the fetus with thickened NT. Methods: 51 cases of fetal simple NT thickening (NT ≥ 2.5mm) were analyzed retrospectively. Results: 11 cases ofchromosomal abnormality were detected in 51 cases of NT thickened fetuses. The detection rate of chromosomal abnormality was 21.57% (11 / 51), including 4 cases of trisomy 21 (7.84%), 3 cases of trisomy 18 (5.88%), 45,X 2 cases(3.92%), 1 case of trisomy 13 (1.96%) and 1 case of balance translocation (1.96%). There were 25 cases in the group of 2.5mm ≤ NT < 3.5mm, including 4 cases of chromosomal abnormality (16.0%); 16 cases in the group of 3.5mm ≤ NT < 4.5mm, including 4 cases of chromosomal abnormality (25.0%); 10 cases in the group of NT ≥ 4.5mm, including 3 cases of chromosomal abnormality (30.0%). The thicker NT, the higher the risk of chromosomal abnormalities. The pregnancy was terminated in 10 cases..Conclusion: NT thickening in early pregnancy is closely related to chromosomal abnormalities. The greater the degree of NT thickening, the higher the risk of chromosomal abnormalities. |
Key words: early pregnancy NT thickening karyotype analysis fetal chromosomal abnormality follow up |