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

Abstract

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

CLC Number:

R714.53

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

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