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Assessing the value of second-trimester nasal bone hypoplasia in predicting chromosomal abnormalities: a retrospective chromosomal microarray analysis of 351 fetuses

  • Maternal-Fetal Medicine
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Purpose

To evaluate the value of fetal nasal bone hypoplasia and other prenatal risk factors in predicting chromosomal abnormalities.

Methods

In this retrospective cohort study, we collected data on singleton pregnancies diagnosed with fetal nasal bone hypoplasia during second-trimester ultrasound. Fetal karyotyping and chromosomal microarray analysis (CMA) were performed, and pregnancy outcomes were assessed. The association between fetal nasal bone hypoplasia and chromosomal abnormalities was evaluated according to whether other prenatal risk factors were observed.

Results

Our final analysis included 351 pregnancies, of which 62 (17.7%) fetuses had chromosomal abnormalities, including 36 cases of trisomy-21, six cases of trisomy-18, one case each of trisomy-13, and 47, XYY syndrome, and 18 cases of copy number variations (CNVs). Among the 243 cases of isolated nasal bone hypoplasia, 28 (11.5%) cases of chromosomal aberrations were identified. The incidence was significantly higher if other soft markers or structural abnormalities were simultaneously detected. Pregnancy was terminated in 43 aneuploid fetuses and nine fetuses detected with CNVs. The parents of the fetuses diagnosed with 47, XYY syndrome and the other nine CNVs chose to continue the pregnancy, and no abnormalities were detected in the newborns. Furthermore, we found that other prenatal risk factors should be considered in evaluating the likelihood of chromosomal abnormalities in fetuses with nasal bone hypoplasia.

Conclusions

Nasal bone hypoplasia is a highly specific soft marker that is associated with multiple chromosomal abnormalities. The risk of chromosomal abnormalities increases when combined with structural abnormalities or increased nuchal translucency (NT). Chromosomal microarray analysis is a powerful prenatal test for chromosomal abnormalities, which may be warranted in fetuses with nasal bone hypoplasia.

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Funding

This research was funded by Shenzhen Key Medical Discipline Construction Fund (SZXK028).

Author information

Author notes

  1. Lei Pan and Hui Liang contributed equally to this work.

Authors and Affiliations

  1. Department of Medical Genetics and Prenatal Diagnosis, Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, 518102, China

    Lei Pan & Rui Zhang

  2. Central Laboratory, Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, 518102, China

    Hui Liang

  3. Department of Medical Image Center, Medical Research Institute, Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, 518102, China

    Zhuo Meng

  4. Medical Research Institute, Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, 518102, China

    Jun Wang & Yong Wu

Authors
  1. Lei Pan
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  2. Hui Liang
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  4. Jun Wang
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  5. Rui Zhang
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Contributions

LP: project development, protocol development, data collection, data analysis, manuscript writing and editing. HL: project development, protocol development, data analysis, and manuscript writing. ZM: project development, protocol development, and data analysis. JW: project development and data management. RZ: data management and manuscript writing. YW: project development, data analysis, data management, and manuscript writing.

Corresponding authors

Correspondence to Rui Zhang or Yong Wu.

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The authors declare no conflict of interest.

Ethics approval

This study was conducted according to the guidelines of the Declaration of Helsinki. This work was approved by the Ethics Committee of the Shenzhen Baoan women’s and children’s Hospital.

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Informed consent was obtained from all subjects involved in this study.

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Pan, L., Liang, H., Meng, Z. et al. Assessing the value of second-trimester nasal bone hypoplasia in predicting chromosomal abnormalities: a retrospective chromosomal microarray analysis of 351 fetuses. Arch Gynecol Obstet 308, 1263–1270 (2023). https://doi.org/10.1007/s00404-022-06808-6

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  • DOI: https://doi.org/10.1007/s00404-022-06808-6

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