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Selection of prenatal screening with nuchal translucency > 95th centile and below 99th centile: a 4-year observational study with real-world data

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Abstract

Objective

We sought to analyze the genetic outcomes of fetuses with nuchal translucency (NT) > 95th centile, and determine whether prenatal genetic counseling, chromosomal microarray analysis (CMA) or non-invasive prenatal testing (NIPT) are truly beneficial for the outcomes of fetuses with increased NT > 95th centile and below 99th centile.

Materials and methods

A total of 535 pregnant women were included in this study, with a fetal NT > 95th centile at 11–13+6 weeks of gestation from January 2017 to December 2020. 324 pregnant women with fetal NT > 95th centile and below 99th centile combined with other risk factors and NT > 99th centile received prenatal diagnostic karyotype analysis and CMA, and 211 pregnant women with fetal isolated increased NT > 95th centile and below 99th centile were selected to carry out NIPT.

Results

A total of 211 pregnant women who underwent NIPT were included in the study, NIPT results showed that 8 high-risk cases were confirmed by prenatal diagnosis. Overall, the detection rate of NIPT was 3.79%. A total of 324 pregnant women with fetal NT > 95th centile and below 99th centile, along with other risk factors, and those with fetal NT > 99th centile, received karyotype analysis and CMA for prenatal diagnosis. Among them, a total of 73 genetic abnormalities were detected, including 45 cases of chromosomal aneuploidy, 7 cases of structural abnormalities, and 21 cases of copy number variations (CNVs) with a size of less than 10 Mb. In addition, the 73 women with genetic abnormalities are divided into three groups based on the NT measurement (Group 1: Fetuses with NT > 95th centile and below 99th centile, Group 2: Fetuses with NT > 99th centile, and Group 3: Fetuses with NT > 99th centile). 13.11% (8/61) of pathogenic genetic abnormalities (6 chromosomal aneuploidy, 1 structural abnormality, and 1 likely pathogenic CNV) will be missed if genetic counseling and prenatal genetic testing were not conducted in fetuses with increased NT > 95th centile and below 99th centile combined with other risks. Pathogenic CNVs were the most common abnormalities in group 3, and one likely pathogenic CNV was detected in group 1 and group 3, respectively, and a total of 14 CNVs of unknown clinical significance (VOUS) were detected.

Conclusions

Through this study, we demonstrated that the critical value of NT > 95th centile for invasive detection or NIPT. Invasive testing combined with CMA may be recommended for fetuses with NT > 95th centile and below 99th centile and with other risks. But when isolated NT > 95th centile and below 99th centile, NIPT would be appropriate.

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Fig. 1

Availability of data and materials

The datasets analyzed during the current study are available from the corresponding author on reasonable request.

Abbreviations

NT:

Nuchal translucency

CNV:

Copy number variants

CMA:

Chromosomal microarray

NIPT:

Noninvasive prenatal testing

VOUS:

Variants of uncertain significance

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Acknowledgements

We would like to thank our patients for agreeing to donate their personal data to our study and have these been published. We are also grateful to the technical support of doctors and paramedic staff of Maternity and Child Health Hospital, Hefei, Anhui, PR China.

Funding

This work was supported by the Anhui Key Research and Development Program (NO:2022e07020031).

Author information

Author notes

  1. Bin Zhang and Long-Xiu Zhang have contributed equally to this work.

Authors and Affiliations

  1. Department of Science and Education, Maternal and Child Medical Centre, Anhui Medical University, Hefei Maternal and Child Health Hospital, Hefei, 230001, Anhui, China

    Bin Zhang

  2. Department of Imaging Centre, The Fifth Clinical School of Anhui Medical University, Children’s Medical Centre of Anhui Medical University, Anhui Children’s Hospital, Hefei, 230041, Anhui, China

    Long-Xiu Zhang

  3. Department of Obstetrics and Gynecology, Maternal and Child Medical Centre of Anhui Medical University, Hefei, 230001, Anhui, China

    Jiao Yi

  4. Clinical Genetics CenterMaternal and Child Medical Centre, Anhui Medical University, Hefei, 230001, Anhui, China

    Chao-Hong Wang

  5. Teaching and Research Section of Nuclear Medicine, Department of School of Basic Medical Sciences, Teaching and Research Section of Nuclear Medicine of Anhui Medical University, 81 Meishan Road, Hefei, 230032, Anhui, China

    Long-Xiu Zhang & Ye Zhao

Authors
  1. Bin Zhang
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  2. Long-Xiu Zhang
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Contributions

BZ and CW produced the initial full write up of the manuscript, LZ contributed to data collection and analysis, JY and YZ revised the final manuscript carefully. All authors have read and agreed with this manuscript.

Corresponding authors

Correspondence to Chao-Hong Wang or Ye Zhao.

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Conflict of interest

The authors declare no competing interests.

Ethical approval and consent to participate

This study was reviewed and authorized by the Research Ethics Committee of the Anhui Maternal and Child health care Hospital. Written informed consent was obtained from all participants. This study was conducted on the basis of the ethical standards of the institutional research committee.

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Zhang, B., Zhang, LX., Yi, J. et al. Selection of prenatal screening with nuchal translucency > 95th centile and below 99th centile: a 4-year observational study with real-world data. Arch Gynecol Obstet (2024). https://doi.org/10.1007/s00404-024-07500-7

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