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

Francesca Bardi*, Pien Bosschieter, Joke Verheij, Attie Go, Monique Haak, Mireille Bekker, Esther Sikkel, Audrey Coumans, Eva Pajkrt, Caterina Bilardo

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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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 95 th and 99 th percentile and 62% for fetuses with NT≥99 th 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.

Original languageEnglish
Pages (from-to)197-205
Number of pages9
JournalPrenatal Diagnosis
Issue number2
Early online date1 Jan 2019
Publication statusPublished - Jan 2020


  • Abnormal Karyotype
  • Adolescent
  • Adult
  • Aneuploidy
  • Chromosome Disorders/diagnostic imaging
  • Congenital Abnormalities/diagnostic imaging
  • DiGeorge Syndrome/diagnostic imaging
  • Down Syndrome/diagnostic imaging
  • Ectodermal Dysplasia/diagnostic imaging
  • Facies
  • Failure to Thrive/diagnostic imaging
  • Female
  • Heart Defects, Congenital/diagnostic imaging
  • Humans
  • LEOPARD Syndrome/diagnostic imaging
  • Middle Aged
  • Netherlands
  • Noninvasive Prenatal Testing
  • Noonan Syndrome/diagnostic imaging
  • Nuchal Translucency Measurement
  • Pregnancy
  • Pregnancy Trimester, First
  • Trisomy 13 Syndrome/diagnostic imaging
  • Trisomy 18 Syndrome/diagnostic imaging
  • Ultrasonography, Prenatal
  • Young Adult


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