国际妇产科学杂志 ›› 2025, Vol. 52 ›› Issue (3): 302-308.doi: 10.12280/gjfckx.20250061
梁逸萱, 周冉, 孟露露, 刘婷婷, 霍海芹, 张沁欣, 胡平, 许争峰, 王艳()
收稿日期:
2025-01-17
出版日期:
2025-06-15
发布日期:
2025-06-19
通讯作者:
王艳
E-mail:wangyan@njmu.edu.cn
基金资助:
LIANG Yi-xuan, ZHOU Ran, MENG Lu-lu, LIU Ting-ting, HUO Hai-qin, ZHANG Qin-xin, HU Ping, XU Zheng-feng, WANG Yan()
Received:
2025-01-17
Published:
2025-06-15
Online:
2025-06-19
Contact:
WANG Yan
E-mail:wangyan@njmu.edu.cn
摘要:
目的:探讨染色体微阵列分析(chromosomal microarray analysis,CMA)在颈后透明层厚度(nuchal translucency,NT)增厚胎儿产前诊断中的应用价值。方法:选取2017年6月—2024年6月于南京医科大学附属妇产医院超声提示NT增厚(≥3.0 mm)并接受CMA检测的孕妇1 033例。根据是否合并其他超声软指标分为单纯NT增厚组(918例)和NT增厚合并其他超声软指标组(115例)。单纯NT增厚组根据孕妇年龄分为高龄组(≥35岁,135例)和非高龄组(<35岁,783例);根据NT厚度分为3.0~3.4 mm组(506例)、3.5~4.4 mm组(288例)、4.5~5.4 mm组(80例)以及≥5.5 mm组(44例)。结果:1 033例NT增厚胎儿共检出染色体异常170例(16.5%),其中染色体非整倍体122例(11.8%),大片段结构异常[拷贝数变异(copy number variation,CNV)≥10 Mb]10例(1.0%)和致病性微缺失微重复(CNV<10 Mb)38例(3.7%)。NT增厚合并其他超声软指标组的染色体异常检出率高于单纯NT增厚组,差异有统计学意义(39.1% vs. 13.6%,χ2=48.388,P<0.001)。单纯NT增厚的孕妇中,高龄组的染色体异常检出率高于非高龄组,差异有统计学意义(25.9% vs. 11.5%,χ2=20.389,P<0.001);无论高龄组或非高龄组,染色体异常检出率随NT厚度的增加呈上升趋势(均P<0.05);NT在3.5~4.4 mm和4.5~5.4 mm时,高龄组的染色体异常检出率高于非高龄组,差异有统计学意义(45.0% vs. 10.9%,P<0.001;42.9% vs. 16.7%,P=0.040)。结论:除非整倍体外,染色体微缺失微重复与NT增厚也密切相关,CMA可有效提高NT增厚胎儿染色体异常的检出率。染色体异常检出率随NT厚度的增加呈上升趋势,NT增厚合并孕妇高龄或合并其他超声软指标将提高胎儿染色体异常的风险。
梁逸萱, 周冉, 孟露露, 刘婷婷, 霍海芹, 张沁欣, 胡平, 许争峰, 王艳. 染色体微阵列分析技术在NT增厚胎儿产前诊断中的应用[J]. 国际妇产科学杂志, 2025, 52(3): 302-308.
LIANG Yi-xuan, ZHOU Ran, MENG Lu-lu, LIU Ting-ting, HUO Hai-qin, ZHANG Qin-xin, HU Ping, XU Zheng-feng, WANG Yan. Application of Chromosomal Microarray Analysis in Prenatal Diagnosis of Fetuses with Increased Nuhal Translucency[J]. Journal of International Obstetrics and Gynecology, 2025, 52(3): 302-308.
病例号 | 年龄 (岁) | NT (mm) | 合并其他超声 软指标 | CMA结果(hg19) | 大小 (kb) | 致病性 | 外显率 (%) | 遗传 来源 |
---|---|---|---|---|---|---|---|---|
1 | 32 | 3.4 | 无 | 15q26.1q26.3(93,666,490_102,429,040)×1 | 8 763 | P | - | - |
2 | 26 | 3.8 | 无 | 15q11.2(22,770,421_23,282,798)×1 | 512 | P | 8.0~10.4 | 母亲 |
3 | 35 | 3.5 | 无 | Xq23q24(114,368,811_117,162,958)×0 | 2 794 | LP | - | - |
4 | 31 | 3.4 | 无 | 15q11.2(22,770,421_23,290,788)×1 | 520 | P | 8.0~10.4 | 新发 |
5 | 26 | 4.8 | 无 | 16p13.11p12.3(15,171,146_18,242,713)×1 | 3 072 | P | 13.1 | - |
6 | 32 | 3.0 | 无 | Yq11.222q11.23(20,252,055_26,202,092)×0 | 5 950 | P | - | - |
7 | 26 | 5.5 | 无 | Yq11.223q11.23(24,820,715_28,420,380)×0 | 3 600 | P | - | - |
8 | 38 | 3.2 | 无 | 22q11.21(18,648,855_21,800,471)×3 | 3 152 | P | 21.9 | 新发 |
9 | 31 | 3.2 | 无 | 17q11.2q12(27,327,677_35,603,747)×1 | 8 276 | P | - | - |
10 | 34 | 3.4 | 鼻骨缺失 | 15q11.2(22,770,421_23,276,605)×1 | 506 | P | 8.0~10.4 | - |
11 | 26 | 3.9 | 无 | 15q11.2(22,770,421_23,282,798)×1 | 512 | P | 8.0~10.4 | - |
12 | 26 | 3.1 | 无 | 22q11.21(18,631,364_21,800,471)×1 | 3 169 | P | - | - |
13 | 28 | 3.2 | 无 | 15q11.2(22,770,421_23,214,655)×1 | 444 | P | 8.0~10.4 | 新发 |
14 | 33 | 4.0 | 无 | 16p11.2(29,428,531_30,350,748)×1 | 922 | P | 46.8 | 新发 |
15 | 25 | 3.0 | 鼻骨发育不良 | 15q11.2q13.1(22,770,421_28,915,864)×1 | 6 145 | P | - | - |
16 | 20 | 5.4 | 无 | 16p11.2(29,591,326_30,190,029)×3 | 599 | P | 27.2 | - |
17 | 29 | 3.4 | 鼻骨发育不良 | 22q11.21(18,916,960_21,800,471)×1 | 2 884 | P | - | - |
18 | 23 | 3.0 | 无 | 15q11.2(22,770,421_23,082,237)×1 | 312 | P | 8.0~10.4 | - |
19 | 31 | 3.3 | 无 | 6q21(108,127,595_108,249,946)×1 | 122 | P | - | - |
20 | 31 | 3.6 | 无 | 22q11.21(18,649,189_21,804,597)×3 | 3155 | P | 21.9 | 新发 |
21 | 26 | 3.3 | 无 | 15q11.2(22,770,422_23,282,798)×1 | 512 | P | 8.0~10.4 | 新发 |
22 | 35 | 4.4 | 颈项褶皱增厚 | 15q11.2(22,770,421_23,282,798)×1 | 512 | P | 8.0~10.4 | - |
23 | 25 | 3.0 | 无 | 15q11.2(22,770,421_23,276,605)×1 | 506 | P | 8.0~10.4 | 母亲 |
24 | 29 | 3.0 | 无 | 15q11.2(22,770,421_23,082,237)×1 | 312 | P | 8.0~10.4 | 母亲 |
25 | 25 | 5.0 | 无 | 1q21.2(149,801,419_149,942,900)×1 | 141 | P | - | - |
26 | 35 | 5.3 | 无 | 5q11.2q12.3(54,803,019_63,748,705)×1 | 8 946 | P | - | - |
27 | 26 | 5.0 | 无 | 1q21.2(149,801,419_149,942,900)×1 | 141 | P | - | - |
28 | 26 | 4.2 | 无 | 15q11.2(22,770,421_23,277,436)×1 | 507 | P | 8.0~10.4 | - |
29 | 33 | 3.0 | 鼻骨缺失 | 15q11.2(22,770,422_23,277,436)×1 | 507 | P | 8.0~10.4 | 母亲 |
30 | 31 | 4.1 | 无 | 22q11.21(18,648,856_21,800,471)×3 | 3 152 | P | 21.9 | 新发 |
31 | 34 | 3.0 | 无 | 16p13.12p12.3(14,769,089_16,858,332)×1 | 2 089 | LP | 13.1 | 新发 |
32 | 31 | 3.1 | 无 | 15q11.2(22,770,421_23,277,436)×1 | 507 | P | 8.0~10.4 | 新发 |
33 | 27 | 3.1 | 无 | Xp22.33 or Yp11.32(363,237_1,358,801 or 313,237_1,308,801)×1 | 996 | P | - | - |
34 | 35 | 4.3 | 无 | 15q11.2(22,770,421_23,082,237)×1 | 312 | P | 8.0~10.4 | 母亲 |
35 | 31 | 5.7 | 无 | 15q11.2(22,770,422_23,277,436)×1 | 507 | P | 8.0~10.4 | 母亲 |
36 | 21 | 3.7 | 无 | 22q11.21(18,631,364_21,800,471)×1 | 3 169 | P | - | - |
37 | 27 | 3.6 | 无 | 15q11.2(22,770,422_23,282,798)×1 | 512 | P | 8.0~10.4 | 新发 |
38 | 33 | 3.2 | 无 | 22q11.21(18,636,749_21,800,471)×1 | 3164 | P | - | - |
表1 38例致病性微缺失微重复的超声及CMA结果
病例号 | 年龄 (岁) | NT (mm) | 合并其他超声 软指标 | CMA结果(hg19) | 大小 (kb) | 致病性 | 外显率 (%) | 遗传 来源 |
---|---|---|---|---|---|---|---|---|
1 | 32 | 3.4 | 无 | 15q26.1q26.3(93,666,490_102,429,040)×1 | 8 763 | P | - | - |
2 | 26 | 3.8 | 无 | 15q11.2(22,770,421_23,282,798)×1 | 512 | P | 8.0~10.4 | 母亲 |
3 | 35 | 3.5 | 无 | Xq23q24(114,368,811_117,162,958)×0 | 2 794 | LP | - | - |
4 | 31 | 3.4 | 无 | 15q11.2(22,770,421_23,290,788)×1 | 520 | P | 8.0~10.4 | 新发 |
5 | 26 | 4.8 | 无 | 16p13.11p12.3(15,171,146_18,242,713)×1 | 3 072 | P | 13.1 | - |
6 | 32 | 3.0 | 无 | Yq11.222q11.23(20,252,055_26,202,092)×0 | 5 950 | P | - | - |
7 | 26 | 5.5 | 无 | Yq11.223q11.23(24,820,715_28,420,380)×0 | 3 600 | P | - | - |
8 | 38 | 3.2 | 无 | 22q11.21(18,648,855_21,800,471)×3 | 3 152 | P | 21.9 | 新发 |
9 | 31 | 3.2 | 无 | 17q11.2q12(27,327,677_35,603,747)×1 | 8 276 | P | - | - |
10 | 34 | 3.4 | 鼻骨缺失 | 15q11.2(22,770,421_23,276,605)×1 | 506 | P | 8.0~10.4 | - |
11 | 26 | 3.9 | 无 | 15q11.2(22,770,421_23,282,798)×1 | 512 | P | 8.0~10.4 | - |
12 | 26 | 3.1 | 无 | 22q11.21(18,631,364_21,800,471)×1 | 3 169 | P | - | - |
13 | 28 | 3.2 | 无 | 15q11.2(22,770,421_23,214,655)×1 | 444 | P | 8.0~10.4 | 新发 |
14 | 33 | 4.0 | 无 | 16p11.2(29,428,531_30,350,748)×1 | 922 | P | 46.8 | 新发 |
15 | 25 | 3.0 | 鼻骨发育不良 | 15q11.2q13.1(22,770,421_28,915,864)×1 | 6 145 | P | - | - |
16 | 20 | 5.4 | 无 | 16p11.2(29,591,326_30,190,029)×3 | 599 | P | 27.2 | - |
17 | 29 | 3.4 | 鼻骨发育不良 | 22q11.21(18,916,960_21,800,471)×1 | 2 884 | P | - | - |
18 | 23 | 3.0 | 无 | 15q11.2(22,770,421_23,082,237)×1 | 312 | P | 8.0~10.4 | - |
19 | 31 | 3.3 | 无 | 6q21(108,127,595_108,249,946)×1 | 122 | P | - | - |
20 | 31 | 3.6 | 无 | 22q11.21(18,649,189_21,804,597)×3 | 3155 | P | 21.9 | 新发 |
21 | 26 | 3.3 | 无 | 15q11.2(22,770,422_23,282,798)×1 | 512 | P | 8.0~10.4 | 新发 |
22 | 35 | 4.4 | 颈项褶皱增厚 | 15q11.2(22,770,421_23,282,798)×1 | 512 | P | 8.0~10.4 | - |
23 | 25 | 3.0 | 无 | 15q11.2(22,770,421_23,276,605)×1 | 506 | P | 8.0~10.4 | 母亲 |
24 | 29 | 3.0 | 无 | 15q11.2(22,770,421_23,082,237)×1 | 312 | P | 8.0~10.4 | 母亲 |
25 | 25 | 5.0 | 无 | 1q21.2(149,801,419_149,942,900)×1 | 141 | P | - | - |
26 | 35 | 5.3 | 无 | 5q11.2q12.3(54,803,019_63,748,705)×1 | 8 946 | P | - | - |
27 | 26 | 5.0 | 无 | 1q21.2(149,801,419_149,942,900)×1 | 141 | P | - | - |
28 | 26 | 4.2 | 无 | 15q11.2(22,770,421_23,277,436)×1 | 507 | P | 8.0~10.4 | - |
29 | 33 | 3.0 | 鼻骨缺失 | 15q11.2(22,770,422_23,277,436)×1 | 507 | P | 8.0~10.4 | 母亲 |
30 | 31 | 4.1 | 无 | 22q11.21(18,648,856_21,800,471)×3 | 3 152 | P | 21.9 | 新发 |
31 | 34 | 3.0 | 无 | 16p13.12p12.3(14,769,089_16,858,332)×1 | 2 089 | LP | 13.1 | 新发 |
32 | 31 | 3.1 | 无 | 15q11.2(22,770,421_23,277,436)×1 | 507 | P | 8.0~10.4 | 新发 |
33 | 27 | 3.1 | 无 | Xp22.33 or Yp11.32(363,237_1,358,801 or 313,237_1,308,801)×1 | 996 | P | - | - |
34 | 35 | 4.3 | 无 | 15q11.2(22,770,421_23,082,237)×1 | 312 | P | 8.0~10.4 | 母亲 |
35 | 31 | 5.7 | 无 | 15q11.2(22,770,422_23,277,436)×1 | 507 | P | 8.0~10.4 | 母亲 |
36 | 21 | 3.7 | 无 | 22q11.21(18,631,364_21,800,471)×1 | 3 169 | P | - | - |
37 | 27 | 3.6 | 无 | 15q11.2(22,770,422_23,282,798)×1 | 512 | P | 8.0~10.4 | 新发 |
38 | 33 | 3.2 | 无 | 22q11.21(18,636,749_21,800,471)×1 | 3164 | P | - | - |
超声情况 | n | 非整倍体 | CNV≥10 Mb | CNV<10 Mb | 合计 |
---|---|---|---|---|---|
单纯NT增厚 | 918 | 82(8.9) | 10(1.1) | 33(3.6) | 125(13.6) |
NT增厚合并其他超声软指标 | 115 | 40(34.8) | - | 5(4.3) | 45(39.1) |
χ2 | 65.568 | - | - | 48.388 | |
P | <0.001 | 0.613* | 0.603* | <0.001 |
表2 单纯NT增厚与NT增厚合并其他超声软指标胎儿的染色体异常结果比较 [例(%)]
超声情况 | n | 非整倍体 | CNV≥10 Mb | CNV<10 Mb | 合计 |
---|---|---|---|---|---|
单纯NT增厚 | 918 | 82(8.9) | 10(1.1) | 33(3.6) | 125(13.6) |
NT增厚合并其他超声软指标 | 115 | 40(34.8) | - | 5(4.3) | 45(39.1) |
χ2 | 65.568 | - | - | 48.388 | |
P | <0.001 | 0.613* | 0.603* | <0.001 |
合并其他超声软指标 | n | 非整倍体 | CNV | 合计 |
---|---|---|---|---|
颈项褶皱增厚 | 13 | - | 1(7.7) | 1(7.7) |
鼻骨缺失或发育不良 | 60 | 26(43.3) | 4(6.7) | 30(50.0) |
轻度侧脑增宽 | 1 | - | - | - |
肠管回声增强 | 2 | 1(50.0) | - | 1(50.0) |
肱骨/股骨偏短 | 1 | - | - | - |
脉络丛囊肿 | 18 | 1(5.6) | - | 1(5.6) |
单脐动脉 | 15 | 9(60.0) | - | 9(60.0) |
肾盂扩张 | 2 | - | - | - |
颈项褶皱增厚+鼻骨缺失或发育不良 | 1 | 1(100.0) | - | 1(100.0) |
鼻骨缺失或发育不良+单脐动脉 | 1 | 1(100.0) | - | 1(100.0) |
鼻骨缺失或发育不良+脉络丛囊肿 | 1 | 1(100.0) | - | 1(100.0) |
表3 NT增厚合并其他超声软指标胎儿的染色体异常结果 [例(%)]
合并其他超声软指标 | n | 非整倍体 | CNV | 合计 |
---|---|---|---|---|
颈项褶皱增厚 | 13 | - | 1(7.7) | 1(7.7) |
鼻骨缺失或发育不良 | 60 | 26(43.3) | 4(6.7) | 30(50.0) |
轻度侧脑增宽 | 1 | - | - | - |
肠管回声增强 | 2 | 1(50.0) | - | 1(50.0) |
肱骨/股骨偏短 | 1 | - | - | - |
脉络丛囊肿 | 18 | 1(5.6) | - | 1(5.6) |
单脐动脉 | 15 | 9(60.0) | - | 9(60.0) |
肾盂扩张 | 2 | - | - | - |
颈项褶皱增厚+鼻骨缺失或发育不良 | 1 | 1(100.0) | - | 1(100.0) |
鼻骨缺失或发育不良+单脐动脉 | 1 | 1(100.0) | - | 1(100.0) |
鼻骨缺失或发育不良+脉络丛囊肿 | 1 | 1(100.0) | - | 1(100.0) |
组别 | n | 非整倍体 | CNV≥10 Mb | CNV<10 Mb | 合计 |
---|---|---|---|---|---|
≥35岁组 | 135 | 30(22.2) | 1(0.7) | 4(3.0) | 35(25.9) |
<35岁组 | 783 | 52(6.6) | 9(1.1) | 29(3.7) | 90(11.5) |
χ2 | 34.365 | - | - | 20.389 | |
P | <0.001 | 1.000* | 0.807* | <0.001 |
表4 单纯NT增厚孕妇高龄组与非高龄组胎儿的染色体异常结果比较 [例(%)]
组别 | n | 非整倍体 | CNV≥10 Mb | CNV<10 Mb | 合计 |
---|---|---|---|---|---|
≥35岁组 | 135 | 30(22.2) | 1(0.7) | 4(3.0) | 35(25.9) |
<35岁组 | 783 | 52(6.6) | 9(1.1) | 29(3.7) | 90(11.5) |
χ2 | 34.365 | - | - | 20.389 | |
P | <0.001 | 1.000* | 0.807* | <0.001 |
组别 | n | 非整倍体 | CNV≥10 Mb | CNV<10 Mb | 合计 |
---|---|---|---|---|---|
≥35岁组 | |||||
3.0~3.4 mm | 74 | 6(8.1) | 1(1.4) | 1(1.4) | 8(10.8) |
3.5~4.4 mm | 40 | 16(40.0) | - | 2(5.0) | 18(45.0) |
4.5~5.4 mm | 14 | 5(35.7) | - | 1(7.1) | 6(42.9) |
≥5.5 mm | 7 | 3(42.9) | - | - | 3(42.9) |
χ2趋势 | 13.264 | - | - | 13.067 | |
P | <0.001 | - | - | <0.001 | |
<35岁组 | |||||
3.0~3.4 mm | 432 | 23(5.3) | 4(0.9) | 15(3.5) | 42(9.7) |
3.5~4.4 mm | 248 | 15(6.0) | 4(1.6) | 8(3.2) | 27(10.9) |
4.5~5.4 mm | 66 | 7(10.6) | - | 4(6.1) | 11(16.7) |
≥5.5 mm | 37 | 7(18.9) | 1(2.7) | 2(5.4) | 10(27.0) |
χ2趋势 | 9.072 | - | 0.759 | 9.305 | |
P | 0.003 | - | 0.384 | 0.002 |
表5 不同NT厚度胎儿的染色体异常结果比较 [例(%)]
组别 | n | 非整倍体 | CNV≥10 Mb | CNV<10 Mb | 合计 |
---|---|---|---|---|---|
≥35岁组 | |||||
3.0~3.4 mm | 74 | 6(8.1) | 1(1.4) | 1(1.4) | 8(10.8) |
3.5~4.4 mm | 40 | 16(40.0) | - | 2(5.0) | 18(45.0) |
4.5~5.4 mm | 14 | 5(35.7) | - | 1(7.1) | 6(42.9) |
≥5.5 mm | 7 | 3(42.9) | - | - | 3(42.9) |
χ2趋势 | 13.264 | - | - | 13.067 | |
P | <0.001 | - | - | <0.001 | |
<35岁组 | |||||
3.0~3.4 mm | 432 | 23(5.3) | 4(0.9) | 15(3.5) | 42(9.7) |
3.5~4.4 mm | 248 | 15(6.0) | 4(1.6) | 8(3.2) | 27(10.9) |
4.5~5.4 mm | 66 | 7(10.6) | - | 4(6.1) | 11(16.7) |
≥5.5 mm | 37 | 7(18.9) | 1(2.7) | 2(5.4) | 10(27.0) |
χ2趋势 | 9.072 | - | 0.759 | 9.305 | |
P | 0.003 | - | 0.384 | 0.002 |
组别 | n | 非整倍体 | CNV≥10 Mb | CNV<10 Mb | 合计 | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
例(%) | χ2 | P | 例(%) | χ2 | P | 例(%) | χ2 | P | 例(%) | χ2 | P | ||
3.0~3.4 mm组 | - | 0.413* | - | 0.548* | - | 0.488* | 0.084 | 0.772 | |||||
≥35岁 | 74 | 6(8.1) | 1(1.4) | 1(1.4) | 8(10.8) | ||||||||
<35岁 | 432 | 23(5.3) | 4(0.9) | 15(3.5) | 42(9.7) | ||||||||
3.5~4.4 mm组 | - | <0.001* | - | 1.000* | - | 0.634* | 30.403 | <0.001 | |||||
≥35岁 | 40 | 16(40.0) | - | 2(5.0) | 18(45.0) | ||||||||
<35岁 | 248 | 15(6.0) | 4(1.6) | 8(3.2) | 27(10.9) | ||||||||
4.5~5.4 mm组 | - | 0.031* | - | - | - | 1.000* | - | 0.040* | |||||
≥35岁 | 14 | 5(35.7) | - | 1(7.1) | 6(42.9) | ||||||||
<35岁 | 66 | 7(10.6) | - | 4(6.1) | 11(16.7) | ||||||||
≥5.5 mm组 | - | 0.322* | - | 1.000* | - | 1.000* | - | 0.404* | |||||
≥35岁 | 7 | 3(42.9) | - | - | 3(42.9) | ||||||||
<35岁 | 37 | 7(18.9) | 1(2.7) | 2(5.4) | 10(27.0) |
表6 不同NT厚度中孕妇高龄与非高龄胎儿的染色体异常结果比较
组别 | n | 非整倍体 | CNV≥10 Mb | CNV<10 Mb | 合计 | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
例(%) | χ2 | P | 例(%) | χ2 | P | 例(%) | χ2 | P | 例(%) | χ2 | P | ||
3.0~3.4 mm组 | - | 0.413* | - | 0.548* | - | 0.488* | 0.084 | 0.772 | |||||
≥35岁 | 74 | 6(8.1) | 1(1.4) | 1(1.4) | 8(10.8) | ||||||||
<35岁 | 432 | 23(5.3) | 4(0.9) | 15(3.5) | 42(9.7) | ||||||||
3.5~4.4 mm组 | - | <0.001* | - | 1.000* | - | 0.634* | 30.403 | <0.001 | |||||
≥35岁 | 40 | 16(40.0) | - | 2(5.0) | 18(45.0) | ||||||||
<35岁 | 248 | 15(6.0) | 4(1.6) | 8(3.2) | 27(10.9) | ||||||||
4.5~5.4 mm组 | - | 0.031* | - | - | - | 1.000* | - | 0.040* | |||||
≥35岁 | 14 | 5(35.7) | - | 1(7.1) | 6(42.9) | ||||||||
<35岁 | 66 | 7(10.6) | - | 4(6.1) | 11(16.7) | ||||||||
≥5.5 mm组 | - | 0.322* | - | 1.000* | - | 1.000* | - | 0.404* | |||||
≥35岁 | 7 | 3(42.9) | - | - | 3(42.9) | ||||||||
<35岁 | 37 | 7(18.9) | 1(2.7) | 2(5.4) | 10(27.0) |
[1] | 王墨涵, 吴琦嫦. 胎儿颈项透明层增厚在产前诊断中的研究进展[J]. 中国医师杂志, 2023, 25(9):1430-1435. doi: 10.3760/cma.j.cn431274-20221120-01202. |
[2] | Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226[J]. Obstet Gynecol, 2020, 136(4):e48-e69. doi: 10.1097/AOG.0000000000004084. |
[3] | Spataro E, Cordisco A, Luchi C, et al. Increased nuchal translucency with normal karyotype and genomic microarray analysis: A multicenter observational study[J]. Int J Gynaecol Obstet, 2023, 161(3):1040-1045. doi: 10.1002/ijgo.14637. |
[4] | Bellai-Dussault K, Dougan SD, Fell DB, et al. Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes[J]. JAMA Netw Open, 2024, 7(3):e243689. doi: 10.1001/jamanetworkopen.2024.3689. |
[5] | Tangshewinsirikul C, Wattanasirichaigoon D, Tim-Aroon T, et al. Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review[J]. J Clin Med, 2024, 13(19):5735. doi: 10.3390/jcm13195735. |
[6] | Vriendt M, Rooryck C, Madar H, et al. Outcomes associated with fetal nuchal translucency between 3.0 and 3.4 mm in the first trimester[J]. Acta Obstet Gynecol Scand, 2025 Feb 17. doi: 10.1111/aogs.15055. |
[7] | Gadsbøll K, Brix N, Sandager P, et al. Increased nuchal translucency thickness and normal chromosomal microarray: Danish nationwide cohort study[J]. Ultrasound Obstet Gynecol, 2025, 65(4):462-469. doi: 10.1002/uog.29198. |
[8] | Lugthart MA, Bet BB, Elsman F, et al. Increased nuchal translucency before 11 weeks of gestation: Reason for referral?[J]. Prenat Diagn, 2021, 41(13):1685-1693. doi: 10.1002/pd.6054. |
[9] | Murgia F, Monni G, Corda V, et al. Metabolomics Analysis of Amniotic Fluid in Euploid Foetuses with Thickened Nuchal Translucency by Gas Chromatography-Mass Spectrometry[J]. Life(Basel), 2021, 11(9):913. doi: 10.3390/life11090913. |
[10] | Hsiao CH, Chen JS, Shiao YM, et al. Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies[J]. J Clin Med, 2022, 11(13):3624. doi: 10.3390/jcm11133624. |
[11] | Lildballe DL, Becher N, Vestergaard EM, et al. A decade of change - lessons learned from prenatal diagnostics in Central Denmark region in 2008-2018[J]. Acta Obstet Gynecol Scand, 2023, 102(11):1505-1510. doi: 10.1111/aogs.14631. |
[12] | Wójtowicz A, Kowalczyk K, Szewczyk K, et al. Array Comparative Genomic Hybridization (aCGH) Results among Patients Referred to Invasive Prenatal Testing after First-Trimester Screening: A Comprehensive Cohort Study[J]. Diagnostics(Basel), 2024, 14(19):2186. doi: 10.3390/diagnostics14192186. |
[13] | Gadsbøll K, Vogel I, Kristensen SE, et al. Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT[J]. Ultrasound Obstet Gynecol, 2024, 64(4):470-479. doi: 10.1002/uog.27667. |
[14] | Nicolaides KH. Ultrasound scan at 11-13 weeks gestation[M]. London: Fetal Medicine Foundation, 2004:24-29. https://fetalmedi-cine.org/education/11-13-weeks-scan. |
[15] | Zhou R, Jiao J, Wang Y, et al. Systematic analysis of copy number variants of uncertain significance partially overlapping with the haploinsufficient or triplosensitive genes in clinical testing[J]. Ann Med, 2023, 55(2):2276824. doi: 10.1080/07853890.2023.2276824. |
[16] |
Del Gaudio D, Shinawi M, Astbury C, et al. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)[J]. Genet Med, 2020, 22(7):1133-1141. doi: 10.1038/s41436-020-0782-9.
pmid: 32296163 |
[17] |
Maya I, Sharony R, Yacobson S, et al. When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations[J]. Genet Med, 2018, 20(1):128-131. doi: 10.1038/gim.2017.89.
pmid: 28726807 |
[18] |
Rosenfeld JA, Coe BP, Eichler EE, et al. Estimates of penetrance for recurrent pathogenic copy-number variations[J]. Genet Med, 2013, 15(6):478-481. doi: 10.1038/gim.2012.164.
pmid: 23258348 |
[19] | Goh S, Thiyagarajan L, Dudding-Byth T, et al. A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment[J]. Genet Med, 2025, 27(1):101227. doi: 10.1016/j.gim.2024.101227. |
[20] | 曾婷, 唐海燕, 李艳颜, 等. 胎儿颈项透明层增厚的产前遗传学诊断及妊娠结局[J]. 现代妇产科进展, 2022, 31(3):186-190. doi: 10.13283/j.cnki.xdfckjz.2022.03.006. |
[21] |
Wang C, Tang J, Tong K, et al. Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency[J]. J Hum Genet, 2022, 67(9):533-539. doi: 10.1038/s10038-022-01041-0.
pmid: 35578003 |
[22] |
Jin H, Wang J, Zhang G, et al. A Chinese multicenter retrospective study of isolated increased nuchal translucency associated chromosome anomaly and prenatal diagnostic suggestions[J]. Sci Rep, 2021, 11(1):5596. doi: 10.1038/s41598-021-85108-6.
pmid: 33692422 |
[23] | 王文芳, 韩燕媚, 陈宏健, 等. CNV-seq联合染色体核型分析在NT增厚胎儿遗传学诊断中的应用价值[J]. 国际遗传学杂志, 2024, 47(2):79-85. doi: 10.3760/cma.j.cn231536-20231123-00059. |
[24] | Qian G, Cai L, Yao H, et al. Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators[J]. BMC Pregnancy Childbirth, 2023, 23(1):784. doi: 10.1186/s12884-023-06052-z. |
[25] | Rybak-Krzyszkowska M, Madetko-Talowska A, Szewczyk K, et al. Is Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microarray? - A Multicenter Retrospective Clinical Cohort Study[J]. Fetal Diagn Ther, 2024, 51(5):453-462. doi: 10.1159/000539463. |
[26] | Bayat A, Bayat M, Broers C, et al. 5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome[J]. Am J Med Genet A, 2021, 185(12):3844-3850. doi: 10.1002/ajmg.a.62428. |
[27] | Huang J, Wu D, He JH, et al. Associations between genomic aberrations, increased nuchal translucency, and pregnancy outcomes: a comprehensive analysis of 2,272 singleton pregnancies in women under 35[J]. Front Med(Lausanne), 2024,11:1376319. doi: 10.3389/fmed.2024.1376319. |
[28] | 黄佳, 吴东, 何嘉欢, 等. 1 658例颈项透明层增厚胎儿基因组拷贝数变异检测结果及出生结局[J]. 中华围产医学杂志, 2023, 26(1):26-32. doi: 10.3760/cma.j.cn113903-20220321-00273. |
[29] | Su L, Huang H, An G, et al. Clinical application of chromosomal microarray analysis in fetuses with increased nuchal translucency and normal karyotype[J]. Mol Genet Genomic Med, 2019, 7(8):e811. doi: 10.1002/mgg3.811. |
[30] | Yang X, Bian X, Shi X, et al. Diagnostic yield of copy number variation sequencing in fetuses with increased nuchal translucency: a retrospective study[J]. Arch Gynecol Obstet, 2024, 309(1):139-144. doi: 10.1007/s00404-022-06900-x. |
[1] | 童飞, 黄卫彤, 刘开敏, 周朔安, 卢秀华. 一例胎儿羊水15号染色体两个额外小标记片段重复分析[J]. 国际妇产科学杂志, 2024, 51(4): 473-476. |
[2] | 黄芬芳, 黄艳华, 胡雪梅, 梁佩. 6q14.1q16.3缺失致胎儿多发畸形一例[J]. 国际妇产科学杂志, 2024, 51(3): 354-356. |
[3] | 郭静, 朱重阳, 李鹏云, 王涵铎, 刘灵. 一例嵌合型Beckwith-Wiedemann综合征的分子诊断与分析[J]. 国际妇产科学杂志, 2023, 50(4): 442-445. |
[4] | 姚欣雨, 李奉瑾, 乔梦茹, 张玉萍. 胎儿先天性心脏病遗传学病因的研究进展[J]. 国际妇产科学杂志, 2022, 49(1): 77-81. |
[5] | 袁碧波, 王秋霞, 李增彦, 马艳红. 叶酸代谢障碍与复发性流产相关性研究进展[J]. 国际妇产科学杂志, 2021, 48(2): 191-195. |
[6] | 李奉瑾, 姚欣雨, 张玉萍. 低深度全基因组测序技术在产前诊断中的研究进展[J]. 国际妇产科学杂志, 2021, 48(1): 75-78. |
[7] | 卢秋敏, 姚吉龙. 早发性卵巢功能不全基因检测的研究进展[J]. 国际妇产科学杂志, 2020, 47(3): 306-311. |
[8] | 任晨春,郭东花,梁玥宏,王文靖,田秀英,崔洪艳,陈成彬,王玲红,杨微微,张海霞,李晓旭. QF-PCR对孕妇SMN1基因筛查并应用于产前诊断[J]. 国际妇产科学杂志, 2019, 46(2): 189-192. |
[9] | 黄红倩;费冬梅;欧阳鲁平;刘天盛;孙惟佳;郑陈光. 576例先天畸形儿的染色体核型分析[J]. 国际妇产科学杂志, 2014, 41(6): 683-685. |
[10] | 瞿晓娴;应 豪. 多胎妊娠早期母儿并发症预测及规范化管理[J]. 国际妇产科学杂志, 2013, 40(6): 492-495. |
[11] | 宋花蕾;方 群;陈宝江;罗艳敏;陈涌珍;陈筠虹. 孤立性轻度侧脑室增宽胎儿的产前诊断及预后[J]. 国际妇产科学杂志, 2012, 39(1): 79-81. |
[12] | 孙立娟 李 岩 张秀玲 史云芳 李晓洲 张 颖. 3 800例羊水细胞染色体核型分析及相关遗传咨询[J]. 国际妇产科学杂志, 2011, 38(1): 68-71. |
[13] | 宋花蕾;陈宝江;方群. 光谱核型分析技术在细胞遗传中的应用[J]. 国际妇产科学杂志, 2010, 37(6): 383-386. |
[14] | 王 彦;袁碧波;岳天孚. 多倍体细胞与肿瘤关系的研究进展[J]. 国际妇产科学杂志, 2010, 37(6): 420-422. |
阅读次数 | ||||||
全文 |
|
|||||
摘要 |
|
|||||