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Does isolated nuchal translucency from 2.5 to 2.9 mm increase the risk of fetal chromosome disease?

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Abstract

Increased fetal nuchal translucency (NT) is a common ultrasonic manifestation during pregnancy. Many studies have confirmed that NT ≥ 3 mm is a high risk factor for adverse pregnancy outcome. However, when NT is between 2.5 and 2.9 mm, will it increase the risk of fetal chromosome abnormalities and other diseases? What is the most appropriate method for prenatal chromosome evaluation? At present, it has not been widely reported in the literature, and the conclusion is also controversial. This prospective cohort study included fetal samples from women who underwent amniocentesis from 2017 to 2020. The samples of the experimental group were fetuses with NT ≥ 2.5 mm at 11 to 13 + 6 weeks of gestation, with or without ultrasonographic anomaly. The control group contained fetal NT < 2.5 mm without ultrasonographic anomalies. All amniotic fluid samples were tested by copy number variants sequencing. In 262 fetal samples with isolated NT from 2.5 to 2.9 mm, the detection rate of aneuploidy was 3.4% (9/262), and the risk of aneuploidy was significantly higher than that of the control group (1.4%, 32/2331) (relative risk 2.5, 95% CI 1.2–5.2). The detection rates of other pathogenic/likely pathogenic copy number variants in the two groups were 0.8% (2/262) and 1.3% (31/2331), respectively, which was not statistically significant (relative risk 0.6, 95% CI 0.1–2.4). Our results showed that isolated NT from 2.5 to 2.9 mm increased the risk of fetal chromosome aneuploidy. Therefore, noninvasive prenatal screening is recommended as the first choice for prenatal chromosome evaluation in this population.

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Funding

This research was supported by the National Key Research and Development Program of China (No. 2021YFC1005300) and the Program of Science and Technology Department of Sichuan Province (No. 2022YFS0244).

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, China

    Daishu Yin, Lin Chen, Li Wang, Yang Zeng, Feng Tang & Jing Wang

  2. Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, 610041, China

    Daishu Yin, Lin Chen, Li Wang, Yang Zeng, Feng Tang & Jing Wang

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  1. Daishu Yin
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  2. Lin Chen
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  3. Li Wang
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  5. Feng Tang
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  6. Jing Wang
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Correspondence to Jing Wang.

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The authors have no conflicts of interest to declare.

Ethical approval

This study was approved by the Medical Ethics Committee of the West China Second University Hospital, Sichuan University (medical research 2016–7). All experiments were performed in accordance with relevant guidelines and regulations. All pregnant women who underwent amniocentesis received comprehensive genetic counselling and provided written informed consent.

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Communicated by Shuhua Xu.

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Yin, D., Chen, L., Wang, L. et al. Does isolated nuchal translucency from 2.5 to 2.9 mm increase the risk of fetal chromosome disease?. Mol Genet Genomics 297, 1643–1648 (2022). https://doi.org/10.1007/s00438-022-01948-5

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