title: First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers.
abstract: OBJECTIVE
  To estimate the improvement in screening efficiency when fetal ductus venosus Doppler studies are added to existing first-trimester Down syndrome screening protocols.
  
  
  METHODS
  Statistical modelling was used with parameters derived from prospective ductus venosus studies and from the published literature. The pulsatility index for veins (PIV), was determined in the fetal ductus venosus for 3706 unaffected and 25 Down syndrome pregnancies at 10-14 weeks' gestation. Concurrent nuchal translucency measurement and maternal serum pregnancy associated plasma protein A and free-beta human chorionic gonadotrophin were also measured.
  
  
  RESULTS
  The median PIV in Down syndrome was 1.70 times higher than in unaffected pregnancies (95% confidence interval 1.36-2.12). PIV levels followed an approximately log Gaussian distribution with log(10) standard deviations of 0.193 and 0.076 in Down syndrome and unaffected pregnancies. There were no statistically significant correlations between PIV and the other markers. Modelling predicts that for a fixed 5% false-positive rate, the addition of PIV to nuchal translucency alone will increase the detection rate from 76 to 85%, and combined with serum markers, from 88 to 92%. For a fixed 85% detection rate, the false-positive rate reduced from 15 to 4.8% and from 3.2 to 1.2% respectively.
  
  
  CONCLUSIONS
  Ductus venosus Doppler studies can substantially improve Down syndrome screening efficiency.
authors: Prenatal Diagnosis Unit, Institute of Gynecology, Obstetrics and Neonatology, University of Barcelona Medical School, Catalonia, Spain. aborrell@medicinia.ub.es
authors: Antoni
authors: A
authors: Borrell
authors: Anna
authors: A
authors: Gonce
authors: Josep M
authors: JM
authors: Martinez
authors: Virginia
authors: V
authors: Borobio
authors: Albert
authors: A
authors: Fortuny
authors: Oriol
authors: O
authors: Coll
authors: Howard
authors: H
authors: Cuckle
mesh_terms: D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D004314:Down Syndrome / Q000097:blood* / Q000000981:diagnostic imaging*; D005260:Female; D005333:Fetus / Q000098:blood supply*; D005865:Gestational Age; D006801:Humans; D008099:Liver / Q000098:blood supply / Q000196:embryology; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011266:Pregnancy-Associated Plasma Protein-A / Q000032:analysis; D011673:Pulsatile Flow; D016216:Ultrasonography, Prenatal; D014471:Umbilical Veins; D014680:Veins / Q000196:embryology; D014682:Vena Cava, Inferior / Q000196:embryology
chemical_list: D018997:Chorionic Gonadotropin, beta Subunit, Human; D011266:Pregnancy-Associated Plasma Protein-A