不同程度颈部透明层增厚胎儿进行染色体拷贝数检测的必要性分析

doi:10.3969/j.issn.1004-616x.2023.06.008

癌变·畸变·突变 ›› 2023, Vol. 35 ›› Issue (6): 452-456.doi: 10.3969/j.issn.1004-616x.2023.06.008

不同程度颈部透明层增厚胎儿进行染色体拷贝数检测的必要性分析

杨兴坤¹, 周晓强², 杜佳月¹, 吴水娟², 陈淑芬², 朱晓丹², 李超², 周雅思¹, 郭明娟¹

1. 佛山市妇幼保健院胎儿研究所妇女儿童医学研究中心, 广东佛山 528000;
2. 佛山市妇幼保健院产前诊断中心, 广东佛山 528000

收稿日期:2023-09-21 修回日期:2023-11-01 出版日期:2023-11-30 发布日期:2023-12-09
作者简介:杨兴坤，E-mail：185330128@qq.com
基金资助:
佛山市科技局资助项目(2020001005606，2020001003953)

Usefulness of determining chromosome copy numbers in fetuses with different NT values

YANG Xingkun¹, ZHOU Xiaoqiang², DU Jiayue¹, WU Shuijuan², CHEN Shufen², ZHU Xiaodan², LI Chao², ZHOU Yasi¹, GUO Mingjuan¹

1. Women and Children Medical Research Center Affiliated to Foshan Institute of Fetal Medicine, Foshan Women and Children Hospital, Foshan 528000;
2. Prenatal Diagnosis Center, Foshan Women and Children Hospital, Foshan 528000, Guangdong, China

Received:2023-09-21 Revised:2023-11-01 Online:2023-11-30 Published:2023-12-09

摘要/Abstract

摘要： 目的：探讨对不同程度颈部透明层(NT)增厚的胎儿进行染色体拷贝数检测的必要性。方法：收集佛山市妇幼保健院2017年1月—2022年5月符合纳入条件的孕妇514例，分为高龄组(A组)、2.5 mm≤NT<3.0 mm组(B组)和NT≥3.0 mm组(C组)，取胎儿绒毛或羊水同时行核型分析和DNA高通量测序检测。结果：514例胎儿共检测出非整倍体42例(8.17%)，致病性拷贝数变异(CNVs)8例(1.56%)，意义不明突变10例(1.95%)。其中B组非整倍体检出率(4.72%)和A组(2.63%)相比，差异无统计学意义(P>0.05)，C组的非整倍体检出率(17.22%)明显高于A组和B组(P<0.05)。对于有临床意义的CNVs的检测，B组(0)和A组(3.51%)差异无统计学意义(P>0.05)，C组检出率(5.56%)高于B组(P<0.05)。结论：针对仅有NT值增厚单一指标的孕妇，应根据NT值提出合理的进一步检测建议。对2.5 mm≤NT<3.0 mm的孕妇不一定需要同时检测染色体CNVs，但要跟孕妇交代残余风险；而当NT≥3.0 mm时应建议同时检测染色体非整倍体及CNVs。

关键词: NT增厚, 核型分析, 染色体拷贝数变异, 介入性产前诊断

Abstract: OBJECTIVE：To analyze the usefulness of determining chromosome copy numbers in fetuses with different NT values. METHODS：From January 2017 to May 2022，514 pregnant women who met the inclusion criteria were recruited from the Foshan Women and Children Hospital.They were divided into the elderly group (Group A)，the 2.5 mm≤NT<3.0 mm group (Group B) and the NT≥3.0 mm group (Group C). Karyotype analysis and next generation sequencing on fetal villi or amniotic fluid were performed simultaneously. RESULTS：From our analysis，there were 42 cases (8.17%) of aneuploidy，8 cases (1.56%) of pathogenic copy number variants (CNVs)，and 10 cases (1.95%) of uncertain significance. There was no significant different in aneuploidy frequencies between Group A (2.63%) and Group B (4.72%)，P>0.05. The aneuploidy frequencies in Group C (17.22%) was significantly higher than that in Groups A and B (P<0.05). For the detection of clinically significant CNVs，there was no statistically significant difference between Group B (0) and Group A (3.51%)，but Group C (5.56%) was significantly higher than that in Group B (0) (P<0.05). CONCLUSION：For pregnant women with only NT value thickening，further testing recommendations should be based on the NT values. CNVs is not necessary for pregnant women with 2.5 mm≤NT<3.0 mm but patients should be informed of residual risk. For pregnant women with NT≥3.0 mm，both karyotype analysis and CNVs are necessary.

Key words: increased nuchal translucency, karyotype analysis, chromosome copy number variation, interventional prenatal diagnosis

中图分类号:

R714.53

杨兴坤, 周晓强, 杜佳月, 吴水娟, 陈淑芬, 朱晓丹, 李超, 周雅思, 郭明娟. 不同程度颈部透明层增厚胎儿进行染色体拷贝数检测的必要性分析[J]. 癌变·畸变·突变, 2023, 35(6): 452-456.

YANG Xingkun, ZHOU Xiaoqiang, DU Jiayue, WU Shuijuan, CHEN Shufen, ZHU Xiaodan, LI Chao, ZHOU Yasi, GUO Mingjuan. Usefulness of determining chromosome copy numbers in fetuses with different NT values[J]. Carcinogenesis, Teratogenesis & Mutagenesis, 2023, 35(6): 452-456.

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不同程度颈部透明层增厚胎儿进行染色体拷贝数检测的必要性分析

Usefulness of determining chromosome copy numbers in fetuses with different NT values

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