Nuchal translucency and cardiac abnormalities in euploid singleton pregnancies

J Matern Fetal Neonatal Med. 2014 Mar;27(5):495-9. doi: 10.3109/14767058.2013.819336. Epub 2013 Jul 19.

Abstract

Objective: To investigate different cut-off levels of nuchal translucency (NT) to predict abnormal cardiac findings (ACF) in second trimester ultrasound examination and confirmed postnatal congenital heart defects (CHD) in euploid pregnancies.

Methods: A retrospective analysis was performed on singleton pregnancies examined in our ultrasound units from 2006 to 2011. Fetuses with an abnormal karyotype were excluded. Different cut-off levels of NT thickness were analyzed to evaluate its performance to detect the ACF on second trimester ultrasound (2nd US) examination and also the CHD detected in neonatal follow-up evaluation of ACF cases.

Results: Of the 12,840 cases, a total number of 8541 euploid pregnancies were included in the study. Thirty-three had ACFs detected by 2nd US (3.86/1000). The mean NT thickness was found to be higher in fetuses with ACFs (p < 0.0001). Of 33 ACFs, 17 (52%, 1.99/1000) had major CHDs in neonatal follow-up. The area under the ROC curves for NT thickness to predict ACFs and CHDs were 0.67 and 0.65, respectively.

Conclusions: Higher NT thickness is associated with higher risk of ACF. NT is a weak predictor of ACF and major CHD; however, fetuses with an unexplained increase in NT measurement should be referred for further cardiac investigations.

Publication types

  • Evaluation Study

MeSH terms

  • Abortion, Eugenic / statistics & numerical data
  • Female
  • Follow-Up Studies
  • Gestational Age
  • Heart Defects, Congenital / diagnostic imaging*
  • Heart Defects, Congenital / epidemiology*
  • Humans
  • Karyotype
  • Nuchal Translucency Measurement* / standards
  • Nuchal Translucency Measurement* / statistics & numerical data
  • Pregnancy
  • Pregnancy Outcome / epidemiology*
  • Pregnancy Trimester, Second
  • Reference Values
  • Retrospective Studies
  • Sensitivity and Specificity
  • Ultrasonography, Prenatal / statistics & numerical data