Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus

Ultrasound Obstet Gynecol. 2020 May;55(5):637-644. doi: 10.1002/uog.21956.


Objective: To examine the association between fetal major heart defects and increased nuchal translucency thickness (NT), tricuspid regurgitation and abnormal flow in the ductus venosus in a large population of singleton pregnancies undergoing routine ultrasound examination at 11-13 weeks' gestation.

Methods: This was a retrospective study of prospectively collected data from singleton pregnancies attending for a routine ultrasound scan at 11-13 weeks' gestation, which included examination of fetal anatomy, measurement of NT and assessment of blood flow across the tricuspid valve and in the ductus venosus, according to a standardized protocol. The incidence of fetal NT ≥ 95th and ≥ 99th percentiles, tricuspid regurgitation and reversed a-wave in the ductus venosus in fetuses with and those without a major heart defect was determined and the performance of each marker and their combination in the detection of major heart defects was calculated.

Results: The study population of 93 209 pregnancies with no apparent chromosomal abnormality included 211 (0.23%) with a fetal major heart defect and 92 998 morphologically normal neonates. In 113 (53.6%) cases with a major heart defect, the diagnosis was made at the 11-13-week scan, in 82 (38.9%) at the 18-24-week scan, in 10 (4.7%) at the third-trimester scan and in six (2.8%) postnatally. At the 11-13-week scan, we diagnosed all cases of tricuspid or pulmonary atresia and polyvalvular dysplasia, > 90% of cases of hypoplastic left heart syndrome or atrioventricular septal defect, about 60% of complex heart defects and cases of left atrial isomerism (interrupted inferior vena cava with normal intracardiac anatomy), 30-40% of cases of tetralogy of Fallot and arch abnormalities, 25% of tricuspid valve abnormalities and about 15% of cases of transposition of the great arteries, but none of aortic or pulmonary stenosis or common arterial trunk. Fetal NT ≥ 95th or ≥ 99th percentile, tricuspid regurgitation or abnormal ductus venosus flow was observed in 77 (36.5%), 45 (21.3%), 61 (28.9%) and 58 (27.5%) fetuses with a major heart defect, respectively, and in 5678 (6.1%), 857 (0.9%), 1136 (1.2%) and 1644 (1.8%) of those without a heart defect. Any one of NT ≥ 95th percentile, tricuspid regurgitation or abnormal flow in the ductus venosus was found in 117 (55.5%; 95% CI, 48.5-62.3%) fetuses with a heart defect and in 8166 (8.8%; 95% CI, 8.6-9.0%) of those without a heart defect. Any one of NT ≥ 99th percentile or the other two markers was found in 99 (46.9%; 95% CI, 40.0-53.9%) fetuses with a heart defect and in 3517 (3.8%; 95% CI, 3.7-3.9%) of those without a heart defect.

Conclusion: At 11-13 weeks' gestation, measurement of fetal NT and assessment of flow across the tricuspid valve and in the ductus venosus can lead to early diagnosis of major heart defect. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Keywords: congenital heart defect; ductus venosus Doppler; fetal abnormalities; first-trimester screening; nuchal translucency; prenatal diagnosis; tricuspid regurgitation; ultrasound examination.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ductus Arteriosus, Patent / diagnostic imaging*
  • Ductus Arteriosus, Patent / embryology
  • Ductus Arteriosus, Patent / epidemiology
  • Early Diagnosis
  • Female
  • Fetal Heart / diagnostic imaging*
  • Fetal Heart / embryology
  • Fetal Heart / physiopathology
  • Gestational Age
  • Heart Defects, Congenital / diagnostic imaging*
  • Heart Defects, Congenital / embryology
  • Heart Defects, Congenital / epidemiology
  • Humans
  • Incidence
  • Infant, Newborn
  • Nuchal Translucency Measurement / methods
  • Nuchal Translucency Measurement / statistics & numerical data*
  • Predictive Value of Tests
  • Pregnancy
  • Pregnancy Trimester, First
  • Prospective Studies
  • Pulsatile Flow
  • Retrospective Studies
  • Transposition of Great Vessels / diagnostic imaging
  • Transposition of Great Vessels / embryology
  • Transposition of Great Vessels / epidemiology
  • Tricuspid Valve Insufficiency / diagnostic imaging*
  • Tricuspid Valve Insufficiency / embryology
  • Tricuspid Valve Insufficiency / epidemiology

Supplementary concepts

  • Conotruncal cardiac defects