| 摘要: |
| 目的 探讨孕11-13+6周鼻骨缺失联合颈项透明层（NT）检测在产前诊断胎儿染色体异常中的临床意义。方法 回顾性分析225例孕11-13+6周超声筛查发现鼻骨缺失的单胎胎儿，根据其NT测值，将其分增厚组（A组）与正常组（B组），分析两组病例染色体异常检出率是否存在统计学差异。结果225例超声提示鼻骨缺失单胎胎儿同时进行NT检测，提示NT增厚（≥3mm）51例（22.67%，51/225），NT正常（＜3mm）174例（77.33%，51/225）。核型分析检出染色体异常共59例（ 26.22%, 59/225 ），包括非整倍体54 例（24.00%, 54/225 ），其他染色体异常5例。微阵列检查15例，染色体片段异常2例。A组核型分析检出染色体异常36例（70.59%， 36/51），包括21-三体 23例（45.10%，23/51），18三体10例（19.61%， 10/51），13-三体、45,X、46,XN,del（4）（p15.2）各1例（1.96%， 1/51），B组核型分析检出染色体异常23例（13.22%， 23/174），包括21-三体 12例（6.90%， 12/174），18三体5例（2.88%， 5/174），13-三体、47，XYY各1例（0.57%， 1/174），染色体多态性4例（2.30%， 4/174）。A组染色体异常检出率显著高于B组，χ2=67.098，P＜0.001，而且A组21-三体与18-三体检出率亦显著高于B组，χ2=43.817、17.750，P＜0.001、0.001，上述差异均有统计学意义。结论早孕期鼻骨联合颈项透明层超声检查，作为一种无创影像学检查技术，能在更早孕周提示胎儿染色体异常，尤其对21-三体及18-三体有重要参考价值。核型正常胎儿进行微阵列检查可发现具体异常的染色体片段及可能包含的致病基因。 |
| 关键词: 鼻骨缺失 染色体异常 染色体微阵列分析技术 21-三体综合征 18-三体综合征 产前诊断 |
| DOI： |
| 投稿时间：2018-07-11修订日期：2018-08-02 |
| 基金项目:2017年东莞市科技计划立项课题 |
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| The clinical significance of absent nasal bone at early pregnancy combined with nuchal translucency screening in prenatal diagnosis of fetal chromosomal abnormalities. |
| wu siyao,Xu Qiuhong |
| (Dongguan Maternal and Child Health Hospital) |
| Abstract: |
| Objective To explore the clinical significance of absent nasal bone at 11-13+6 weeks of pregnancy combined with nuchal translucency screening in prenatal diagnosis of fetal chromosomal abnormalities. Methods 225 cases of 11-13+6 weeks’ singleton pregnancy were retrospectively analyzed, all were found absence of nasal bone by ultrasound screening. Two groups were divided according to the normality of nuchal translucency. Group A, the one with thickened nuchal translucency. Whereas group B, the one with normal nuchal translucency. The detection rate of the chromosomal abnormality between the group A and group B were analyzed to show if there is a statistic difference. Result There were 51 cases(22.67%,51/225) with absent nasal bone with thickened nuchal translucency (≥3mm), 174 cases(77.33%,51/225) with absent nasal bone with normal nuchal translucency (＜3mm). A total of 59 cases with chromosomal abnormalities were detected among 225 fetuses (26.22%,59/225), 54 cases with aneuploidy (24.00%, 54/225) and 5 cases with other chromosomal abnormalities. A total of 15 cases by chromosomal microarray analysis , and 2 cases presented chromosomal abnormalities. 36 cases with chromosomal abnormalities were detected in group A（70.59%,36/51）,including 23 cases with trisomy 21 (45.10%,23/51), 10 with trisomy 18 (19.61%,10/51), 1 with trisomy 13 ,1 with 45,X and 1 with chromosome deletion (1.96%，1/51). 23 cases with chromosomal abnormalities were detected in group B（13.22%,23/174）,including 12 with trisomy 21 (6.90%，12/174), 5 with trisomy 18 (2.88%,5/174), 1 with trisomy 13 and 1 with 47，XYY (0.57%, 1/174)，4 with chromosome polymorphism (2.30%, 4/174). The detection rate of aneuploidy in group A was significantly higher than that in group B(χ2=67.098,P＜0.001). The detection rate of trisomy 21 and trisomy 18 in group A was significantly higher than that in group B(χ2=43.817, 17.750，P＜0.001, 0.001). There were significant differences between two groups. Conclusion As a noninvasive imaging examination, absent nasal bone combined with nuchal translucency screening at early pregnancy can indicate the chromosomal abnormalities earlier, especially trisomy 21 and trisomy 18. Chromosomal microarray analysis can revealed specific abnormal chromosomal fragments and pathogenic genes for normal fetal chromosomes. |
| Key words: Absent nasal bone Chromosomal abnormalities Chromosomal microarray analysis, CMA Trisomy 21 Trisomy 18 Prenatal diagnosis |
