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

FU Huayu; SU Jiasun; HUANG Jing; XU Juanjuan; LI Meng; HUANG Jinai; DU Juan; LI Jiao

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

Volume 23 Issue 6

Jun. 2025

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Article Navigation > Chinese Journal of General Practice > 2025 > 23(6): 972-976

FU Huayu, SU Jiasun, HUANG Jing, XU Juanjuan, LI Meng, HUANG Jinai, DU Juan, LI Jiao. The necessity study of prenatal diagnosis in fetal nuchal translucency from 2.5 to 2.9 mm[J]. Chinese Journal of General Practice, 2025, 23(6): 972-976. doi: 10.16766/j.cnki.issn.1674-4152.004045

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FU Huayu, SU Jiasun, HUANG Jing, XU Juanjuan, LI Meng, HUANG Jinai, DU Juan, LI Jiao. The necessity study of prenatal diagnosis in fetal nuchal translucency from 2.5 to 2.9 mm[J]. Chinese Journal of General Practice, 2025, 23(6): 972-976. doi: 10.16766/j.cnki.issn.1674-4152.004045

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

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

FU Huayu¹
, SU Jiasun²
, HUANG Jing³
, XU Juanjuan¹
, LI Meng¹
, HUANG Jinai¹
, DU Juan¹
, LI Jiao^{1
,
,}

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

Funds:

Z20200026

Z-A20230308

Received Date: 2024-08-11
Available Online: 2025-09-04

Abstract

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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References(21)

References

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