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目的探讨颈项透明层(NT)厚度异常与TORCH宫内感染、胎儿染色体异常、结构异常的相关性。方法选取孕11~13周超声检测显示胎儿NT≥2.5 mm,并且行介入性产前诊断的150例单胎孕妇为研究对象,根据超声NT值,将患者分为2.5~2.9 mm组(42例),3.0~3.4 mm组(39例),3.5~4.4 mm组(28例),≥4.5 mm组(28例),颈部水囊瘤组(13例)等5组,记录所有患者的妊娠结局、胎儿NT值、胎儿结构异常、染色体核型、TORCH-DNA/RNA、地中海贫血基因及出生时是否畸形,并且随访出生后1年内的生长发育情况。结果 150例超声NT增厚胎儿,40例染色体异常(26.67%),37例结构异常(24.67%),8例重型α地中海贫血(5.33%),13例心脏畸形(8.67%),未检出TORCH宫内感染。检出9例18-三体综合征,12例21-三体综合征,8例Turner综合征,其平均超声NT值分别为(7.9±1.2)mm、(4.1±1.9)mm、(11.8±1.8)mm。5组患者的染色体异常分别为4例(9.52%)、5例(12.82%)、8例(28.57%)、15例(53.57%)、8例(61.54%);重型α地中海贫血分别为1例(2.38%)、4例(10.26%)、1例(3.57%)、2例(7.14%)、0例;结构异常分别为3例(7.14%)、8例(20.51%)、7例(25.00%)、12例(42.86%)、7例(53.85%);心脏畸形分别为0例、2例(5.13%)、2例(7.14%)、6例(21.43%)、3例(23.08%)。各组间染色体异常、结构异常和心脏畸形发生率比较,具有统计学意义(P<0.05)。2.5~2.9 mm组(既NT临界增厚组)经早期染色体非整倍体联合筛查后分为:18例低风险组,24例高风险(≥1∶270)组,低风险组未检出染色体异常,高风险组4例染色体异常,两组染色体异常率具有统计学意义(P<0.05)。结论超声NT值异常与胎儿染色体异常、重型α地中海贫血、心脏畸形等相关,并且随着超声NT值增厚,胎儿染色体异常、结构异常和心脏畸形的发生率升高。
Objective To investigate the correlation between the thickness of NT transparent layer and intrauterine infection of TORCH, fetal chromosomal abnormalities and structural abnormalities. Methods 150 singleton pregnant women with NT ≥2.5 mm and fetal interventional prenatal diagnosis were enrolled in the study. The patients were divided into 2.5 ~ 2.9 mm group according to NT value (42 cases ), 3.0 ~ 3.4 mm group (39 cases), 3.5 ~ 4.4 mm group (28 cases), ≥4.5 mm group (28 cases) and cervical cystic tumor group (13 cases) Outcome, fetal NT value, fetal structural abnormalities, chromosomal karyotype, TORCH-DNA / RNA, thalassemia gene and its genesis at birth, and follow-up of growth and development within 1 year after birth. Results 150 cases of ultrasound NT thickened fetus, 40 cases of chromosomal abnormalities (26.67%), 37 cases of structural abnormalities (24.67%), 8 cases of severe α-thalassemia (5.33%) and 13 cases of cardiac malformations (8.67% TORCH intrauterine infection. Nine cases of 18-trisomy, 12 cases of 21-trisomy and 8 cases of Turner’s syndrome were detected. The mean NT values were (7.9 ± 1.2) mm, (4.1 ± 1.9) mm, (11.8 ± 1.8) mm. The chromosomal abnormalities in 5 groups were 5 cases (12.82%), 8 cases (28.57%), 15 cases (53.57%) and 8 cases (61.54%), respectively. The patients with severe alpha thalassemia were 1 (2.38%), 4 cases (10.26%), 1 case (3.57%), 2 cases (7.14%) and 0 case. The structural abnormalities were found in 3 cases (7.14%), 8 cases (20.51% (25.00%), 12 cases (42.86%) and 7 cases (53.85%). The cardiac malformations were 0 cases, 2 cases (5.13%), 2 cases (7.14%), 6 cases (21.43% 23.08%). The chromosomal abnormalities, structural abnormalities and the incidence of cardiac malformations in each group were statistically significant (P <0.05). The 2.5 ~ 2.9 mm group (NT critical thickening group) was divided into 18 low-risk group, 24 high-risk group (≥1: 270) and low-risk group without screening Chromosome abnormalities, high-risk group of 4 cases of chromosomal abnormalities, two groups of chromosomal abnormalities were statistically significant (P <0.05). Conclusion The abnormalities of NT value correlate with fetal chromosomal abnormalities, severe α-thalassemia and cardiac malformations. With the increase of NT value, the incidence of fetal chromosomal abnormalities, structural abnormalities and cardiac malformations is increased.