Improved diagnostic accuracy by using secondary ultrasound markers in the first-trimester screening for trisomies 21, 18 and 13 and Turner syndrome

Prenat Diagn. 2012 Jul;32(7):638-43. doi: 10.1002/pd.3873. Epub 2012 May 9.

Abstract

Objective: The aim of this study was to examine the effectiveness of a combination of parameters at first-trimester screening for fetal aneuploidies, including ultrasound assessment of the nasal bone (NB), blood flow in the ductus venosus (DV) and flow across the tricuspid valve.

Methods: Screening for aneuploidy was carried out in 4172 singleton pregnancies between January 2006 and December 2010. Diagnostic accuracy of combined screening [inclusive of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A] and of secondary ultrasound markers [NB, tricuspid regurgitation (TR) and Doppler studies of the DV] obtained at the same visit was assessed using the receiver operating characteristic (ROC) curve analysis.

Results: The individual areas under the ROC curves of NT, NB, DV or TR ranged between 0.7 and 0.8, representing acceptable discrimination. The area under the ROC curve of combined first-trimester screening was 0.87, whereas the addition of secondary ultrasound markers increased the area under the curve to 0.92, which represents excellent discrimination. At a risk cutoff of 1 : 275, the detection rate for aneuploidy increased from 87% to 92% (z statistic = 1.78, P = 0.076), and the false positive rate decreased from 5.3% to 4.8%.

Conclusion: The addition of secondary ultrasound markers (NB, DV and TR) to combined first-trimester screening showed a tendency toward improved accuracy of the screening.

MeSH terms

  • Adult
  • Aneuploidy
  • Chorionic Gonadotropin, beta Subunit, Human / blood
  • Chromosome Disorders / diagnosis*
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 18*
  • Coronary Circulation
  • Down Syndrome / diagnosis*
  • Female
  • Humans
  • Maternal Age
  • Nasal Bone / diagnostic imaging
  • Nuchal Translucency Measurement
  • Predictive Value of Tests
  • Pregnancy
  • Pregnancy Trimester, First
  • Pregnancy-Associated Plasma Protein-A / analysis
  • Retrospective Studies
  • Tricuspid Valve / diagnostic imaging
  • Tricuspid Valve Insufficiency / diagnostic imaging
  • Trisomy / diagnosis*
  • Trisomy 13 Syndrome
  • Turner Syndrome / diagnosis*
  • Ultrasonography, Prenatal / methods*
  • Umbilical Veins / diagnostic imaging*

Substances

  • Chorionic Gonadotropin, beta Subunit, Human
  • Pregnancy-Associated Plasma Protein-A