| 摘要: |
| ［摘要］ 目的 分析孕早期颈部透明层（NT）增厚胎儿的染色体核型及妊娠结局。方法 选择2019-01～2020-04在玉林市妇幼保健院优生遗传科就诊的NT增厚（NT≥2.5 mm）胎儿72例，均于妊娠早期经超声检查确诊，并行绒毛染色体核型检测。分析NT增厚情况与染色体核型及胎儿妊娠结局的关联性。结果 在72例NT增厚胎儿中，检出染色体异常22例（30.56%）。其中21三体8例（11.11%），18三体5例（6.94%），45,X 4例（5.56%），13三体2例（2.78%），47,XYY 1例（1.39%），平衡易位1例（1.39%），嵌合体1例（1.39%）。2.5 mm≤NT<3.5 mm组、3.5 mm≤NT<4.5 mm组和NT≥4.5 mm组的核型异常率分别为16.67%(5/30)、24.00%(6/25)和64.71%(11/17)，三组比较差异有统计学意义（χ2=12.577,P=0.002）。54例单纯性NT增厚者中检出染色体异常11例（20.37%），18例NT增厚合并其他超声特征异常者中检出染色体异常11例（61.11%），差异有统计学意义（χ2=10.560,P=0.001）。72例NT增厚胎儿中22例终止妊娠，成功分娩50例，其中1例右耳前发现5 mm×5 mm肉芽肿性赘生物，其余均存活，无明显不良预后。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。NT增厚且合并其他超声特征异常时，胎儿染色体异常风险更高。 |
| 关键词: 孕早期 颈部透明层增厚 染色体核型 胎儿 妊娠结局 |
| DOI：10.3969/j.issn.1674-3806.2021.01.14 |
| 分类号:R 446 |
| 基金项目:玉林市科技攻关项目（编号：玉市科20201618） |
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| Analysis of chromosomal karyotypes and pregnancy outcomes of 72 fetuses with nuchal translucency thickening in the first trimester |
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LAI Yu-qing, DENG Guo-sheng
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Department of Pregnancy Health, Yulin Maternity and Child Health Hospital, Guangxi 537000, China
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| Abstract: |
| ［Abstract］ Objective To analyze the chromosomal karyotypes and pregnancy outcomes of fetuses with nuchal translucency(NT) thickening in the first trimester. Methods From January 2019 to April 2020, 72 fetuses with NT thickening(NT≥2.5 mm) were selected in the Department of Eugenics and Genetics of Yulin Maternity and Child Health Hospital. All of them were confirmed by ultrasound examination in the first trimester, and the chorionic karyotypes were detected. The correlation between NT thickening and chromosomal karyotypes and fetal pregnancy outcomes was analyzed. Results Of the 72 fetuses with thickened NT, 22 cases(30.56%) were detected with chromosomal abnormalities, among whom, 8 cases had trisomy 21(11.11%); 5 cases had trisomy 18(6.94%); 4 cases had 45, X(5.56%); 2 cases had trisomy 13(2.78%); 1 case had 47, XYY(1.39%); 1 case had balanced translocation(1.39%) and 1 case had chimera(1.39%). The abnormal karyotype rates in 2.5 mm≤NT<3.5 mm group, 3.5 mm≤NT<4.5 mm group and NT≥4.5 mm group were 16.67%(5/30), 24.00%(6/25) and 64.71%(11 /17), respectively, and the difference was statistically significant among the three groups(χ2=12.577, P=0.002). Chromosomal abnormalities were detected in 11 cases(20.37%) of the 54 patients with simple NT thickening, and chromosomal abnormalities were detected in 11 cases(61.11%) of the 18 patients with NT thickening and other ultrasonic abnormalities, and the difference was statistically significant between the two groups(χ2=10.560, P=0.001). Among the 72 cases of NT thickening fetus, 22 cases were terminated pregnancy and 50 cases were successfully delivered, among whom 1 case was found with a granulomatous neoplasm of 5 mm×5 mm in front of the right ear, and the rest survived without obvious adverse prognoses. Conclusion Fetal NT thickening in early pregnancy is closely related to chromosomal abnormalities. The greater the thickness of NT, the higher the risk of chromosomal abnormalities in the fetus. When NT thickens and other ultrasound features are abnormal, the risk of fetal chromosomal abnormalities is higher. |
| Key words: First trimester Nuchal translucency(NT) thickening Chromosomal karyotype Fetus Pregnancy outcome |
