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. 2020 Jan;40(2):197-205.
doi: 10.1002/pd.5590. Epub 2019 Nov 27.

Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

Francesca Bardi  1 , Pien Bosschieter  1 , Joke Verheij  2 , Attie Go  3 , Monique Haak  4 , Mireille Bekker  5 , Esther Sikkel  6 , Audrey Coumans  7 , Eva Pajkrt  8 , Caterina Bilardo  1   9
Affiliations

Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

Francesca Bardi et al. Prenat Diagn. 2020 Jan.

Abstract

Objectives: To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities.

Methods: This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected.

Results: In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95th and 99th percentile and 62% for fetuses with NT≥99th percentile. Prevalence of single-gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively.

Conclusion: Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement.

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Conflict of interest statement

All authors declare they have no conflicts of interest.

Figures

Figure 1
Figure 1
Flowchart patient population
Figure 2
Figure 2
ROC curve all congenital abnormalities [Colour figure can be viewed at http://wileyonlinelibrary.com]
Figure 3
Figure 3
ROC curve pregnancy outcome [Colour figure can be viewed at http://wileyonlinelibrary.com]
See this image and copyright information in PMC

References

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MeSH terms

Supplementary concepts