胎儿颈项透明层在2.5~2.9 mm时进行产前诊断的必要性研究

付华钰; 苏家荪; 黄婧; 许涓涓; 李萌; 黄金爱; 杜娟; 李娇

doi:10.16766/j.cnki.issn.1674-4152.004045

胎儿颈项透明层在2.5~2.9 mm时进行产前诊断的必要性研究

doi: 10.16766/j.cnki.issn.1674-4152.004045

付华钰¹,
苏家荪²,
黄婧³,
许涓涓¹,
李萌¹,
黄金爱¹,
杜娟¹,
李娇^1, ,

1.
广西壮族自治区妇幼保健院新阳产前诊断与优生遗传科，广西南宁 530005
2.
广西壮族自治区妇幼保健院遗传代谢中心实验室
3.
广西壮族自治区妇幼保健院厢竹产前诊断与优生遗传科

基金项目:

广西壮族自治区卫生健康委员会自筹经费科研课题 Z20200026

广西壮族自治区卫生健康委员会自筹经费科研课题 Z-A20230308

详细信息

通讯作者:
李娇，E-mail：17132865@qq.com

中图分类号: R714.5
计量
- 文章访问数: 14
- HTML全文浏览量: 10
- PDF下载量: 2
- 被引次数: 0
出版历程
- 收稿日期: 2024-08-11
- 网络出版日期: 2025-09-04

The necessity study of prenatal diagnosis in fetal nuchal translucency from 2.5 to 2.9 mm

1.
Department of Xinyang Prenatal Diagnosis and Clinical Genetics, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530005, China

摘要

摘要: 目的评估颈项透明层(NT)增厚胎儿的染色体异常风险，探讨NT 2.5~2.9 mm作为产前诊断指征的必要性。方法回顾性分析2016年1月—2021年6月因NT≥2.5 mm在广西妇幼保健院进行产前诊断的2 779例胎儿染色体结果及NT值为2.5~2.9 mm胎儿的妊娠结局。根据NT值将胎儿分为4组：A组(2.5~2.9 mm)555例、B组(3.0~3.4 mm)1 026例、C组(3.5~3.9 mm)440例和D组(≥4.0 mm)758例。结果 2 779例病例中共检出非整倍体606例、三倍体2例、拷贝数变异(CNV)173例。4组中检出的非整倍体分别为45例(8.11%)、137例(13.35%)、87例(19.77%)和337例(44.46%)，检出率随NT厚度的增加而升高；检出的CNV分别为23例(4.14%)、61例(5.95%)、31例(7.05%)和58例(7.65%)。A组中孤立性NT、合并超声软指标及合并结构畸形病例的非整倍体分别为22例(4.55%)、14例(28.57%)和9例(40.91%)，差异有统计学意义(χ²=67.553，P < 0.001)；CNV分别为20例(4.13%)、2例(4.08%)和1例(4.55%)，差异无统计学意义(P>0.05)。结论当NT为2.5~2.9 mm时，胎儿存在染色体异常的风险较高，为降低出生缺陷，建议进行产前诊断，检测染色体核型和CNV。
- 胎儿颈后透明层 /
- 介入性产前诊断 /
- 染色体异常 /
- 拷贝数变异
Abstract: Objective To estimate the risk of chromosomal abnormalities in cases of fetal nuchal translucency (NT) and explore the necessity of NT from 2.5 to 2.9 mm as an indication for prenatal diagnosis. Methods A retrospective analysis was conducted on chromosome-tested results of 2 779 fetuses diagnosed with NT≥ 2.5 mm from January 2016 to June 2021 at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. And follow up on the pregnancy outcome of fetuses with NT values ranging from 2.5 to 2.9 mm. The fetuses were divided into four groups according to different NT values: A (2.5-2.9 mm) 555 cases, B (3.0-3.4 mm) 1 026 cases, C (3.5-3.9 mm) 440 cases, and D (≥4.0 mm) 758 cases. Results Among 2 779 cases, 606 of aneuploidy and 2 of triploid were detected; 173 of copy number variation(CNV) were detected. The aneuploidy in groups A, B, C, and D were 45 cases (8.11%), 137 cases (13.35%), 87 cases (19.77%), and 337 cases (44.46%), respectively; The risk of aneuploidy increased with the increase of NT value. And the CNV were 23 cases (4.14%), 61 cases (5.95%), 31 cases (7.05%) and 58 cases (7.65%), respectively. In Group A, the aneuploidy in the cases of increased NT isolated, increased NT with soft marks, and increased NT with structural abnormalities were 22 cases (4.55%), 14 cases (28.57%), and 9 cases (40.91%), respectively. The difference was statistically significant (χ²=67.553, P < 0.001). And the CNV were 20 cases (4.13%), 2 cases (4.08%), and 1 cases (4.55%), respectively. The differences weren ' t statistically significant. Conclusion When the NT value is between 2.5-2.9 mm, the risk of chromosomal abnormalities in the fetus is still high. Prenatal diagnosis should be recommended, testing the fetal chromosome karyotype and CNV, in order to reduce the birth defects.
- Nuchal translucency /
- Invasive prenatal diagnosis /
- Chromosomal abnormality /
- Copy number variants

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表 1 各组染色体异常的检出率[例(%)]

Table 1. The rates of chromosomal abnormalities in each group [cases (%)]

组别	例数	非整倍体	三倍体	CNV			正常
组别	例数	非整倍体	三倍体	P/LP	UPD	VOUS	正常
A组	555(19.97)	45(8.11)	0	13(2.34)	0	10(1.80)	487(87.75)
B组	1 026(36.92)	137(13.35)	0	27(2.63)	3(0.29)	31(3.02)	828(80.70)
C组	440(15.83)	87(19.77)	0	17(3.86)	0	14(3.18)	322(73.18)
D组	758(27.28)	337(44.46)	2(0.26)	35(4.62)	0	23(3.03)	361(47.63)
χ²值		334.851^a	7.404^b
P值		< 0.001	0.060
注：P/LP为致病性/可能致病性拷贝数变异；UPD为单亲二体；VOUS为临床意义不明拷贝数变异；4组间非整倍体检出率比较，^aP < 0.05；4组间CNV检出率比较，^bP>0.05。

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表 2 A组3类病例的染色体异常检出率[例(%)]

Table 2. The rates of chromosomal abnormalities in the three case categories of Group A [cases (%)]

病例类别	病例数	非整倍体	CNV		正常
病例类别	病例数	非整倍体	P/LP	VOUS	正常
孤立性	484(87.21)	22(4.55)	11(2.27)	9(1.86)	442(91.32)
合并超声软指标	49(8.83)	14(28.57)	1(2.04)	1(2.04)	33(67.35)
合并结构畸形	22(3.96)	9(40.91)	1(4.55)	0	12(54.55)
χ²值		67.553^a	0.010^b
P值		< 0.001	0.999
注：P/LP为致病性/可能致病性拷贝数变异；VOUS为临床意义不明拷贝数变异。

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表 3 A组CNVs病例及其妊娠结局

Table 3. CNVs cases and outcome in group A

序号	NT(mm)	核型	CNV	片段(Mb)	意义	妊娠结局
1	2.5	未见异常	arr[GRCh37]1q21.1q21.2(146512899_147364496)x3	0.9	P	活产
2	2.5	未见异常	arr[GRCh37]22q11.21(20737903_21462353)x1	0.7	P, pat	活产
3	2.5	未见异常	arr[GRCh37]7q11.23(72350815_74138121)x1	1.8	P	引产
4	2.5	未见异常	arr[GRCh37]7q22.1(99605588_102559768)x1	3.0	P, dn	发育迟缓
5	2.5	未见异常	arr[GRCh37]17p12(14101029_15449627)x1	1.3	P, pat	活产
6	2.5	未见异常	arr[GRCh37]17p12(14101029_15449627)x1	1.3	P	活产
7	2.9	46, XY, del(1)(p36.21p36.23)	arr[GRCh37]1p36.23p36.21(7558193_15539998)x1	15.5	P	引产
8	2.6	46, XX, del(1)(p36.2)	arr[GRCh37]1p36.33p36.22(840327_10708142)x1, 1p36.22p36.21(10714911_14090277)x3	9.9, 3.4	P	引产
9	2.6	46, XX, der(8)t(8；13)(p23；q31)mat	arr[GRCh37]8p23.3p23.1(176818_6974050)x1, 13q31.2q34(88203077_115106996)x3	6.8, 26.9	P, mat	引产
10	2.8	46, XY, +der(13)t(13；21)(q14.3；q21.1), -21	arr[GRCh37]13q11q14.3(19263735_66859440)x3, 21q11.2q21.1(15342304_20136216)x1	47.6, 4.8	P	引产
11	2.8	45, X[45]/46, X, i(X)(q10)[5]	arr[GRCh37]Xp22.33p11.23(43118_48694241)x1, Xp11.23q28(48700092_154929412)x2~3	48.7, 106.2	P	引产
12	2.7	未见异常	arr[GRCh37]1q21.1(145384225_145747463)x1	0.4	VOUS, mat	活产
13	2.7	未见异常	arr[GRCh37]2q34(212670425_213285057)x1	0.6	VOUS, dn	活产
14	2.5	未见异常	arr[GRCh37]2p23.1p22.3(31109504_32296099)x1	1.3	VOUS	活产
15	2.8	未见异常	arr[GRCh37]4p14q24(38537654_105428417)x2, hmz；4q34.3q35.2(183111871_190880409)x2, hmz	66.8, 7.7	VOUS	活产
16	2.7	未见异常	arr[GRCh37]1p36.33p36.13(858496_19027239)x2, hmz；12q21.31q21.32(83524291_87528020)x2, hmz	18.1, 4.0	VOUS	活产
17	2.9	未见异常	arr[GRCh37]18p11.22p11.21(10823628_11853419)x3	1.0	VOUS, mat	活产
18	2.7	未见异常	arr[GRCh37]17p13.1(7846684_8172732)x3	0.3	VOUS, dn	活产
19	2.5	未见异常	arr[GRCh37]17p13.1(8919630_9753370)x1	0.8	VOUS, mat	活产
20	2.7	未见异常	arr[GRCh37]Yp11.2(3900757_8311795)x0	4.4	VOUS, mat	活产
21	2.5^a	未见异常	arr[GRCh37]12p13.33p12.1(191619_24205099)x2~4	24.0	P, dn	引产
22	2.5^a	未见异常	arr[GRCh37]6p25.3p25.2(780441_2958095)x3	2.1	VOUS	活产
23	2.6^b	46, XX, del(4)(p15.2)	arr[GRCh37]4p16.3p15.2(48283_27534917)x1	27.5	P	引产
注：P为致病性拷贝数变异；VOUS为临床意义不明拷贝数变异；pat为父源；mat为母源；dn为de novo, 新发；^a表示胎儿鼻骨未显示；^b表示唇腭裂、肠管回声增强。

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