title: First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free β-hCG and PAPP-A: a 5-year prospective study.
abstract: OBJECTIVE
  To investigate the performance of first-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at a one-stop clinic for assessment of risk (OSCAR).
  
  
  METHODS
  In total, 13,706 fetuses in 13,437 pregnancies were screened for chromosomal abnormalities during a period of 5 years. Maternal serum biochemical markers and maternal age were evaluated in combination with NT, NT + NB, NT + NB + TR, and NT + NB + TR + DV flow data in 8581, 242, 236 and 4647 fetuses, respectively.
  
  
  RESULTS
  In total, 51 chromosomal abnormalities were identified in the study population, including 33 cases of trisomy 21, eight of trisomy 18, six of sex chromosome abnormality, one of triploidy and three of other unbalanced abnormalities. The detection rate and false-positive rate (FPR) for trisomy 21 were 93.8% and 4.84%, respectively, using biochemical markers and NT, and 100% and 3.4%, respectively, using biochemical markers, NT, NB, TR and DV flow.
  
  
  CONCLUSIONS
  While risk assessment using combined biochemical markers and NT measurement has an acceptable screening performance, it can be improved by the integrated evaluation of secondary ultrasound markers of NB, TR and DV flow. This enhanced approach would decrease the FPR from 4.8 % to 3.4 %, leading to a lower number of unnecessary invasive diagnostic tests and subsequent complications, while maintaining the maximum level of detection rate. Pre- and post-test genetic counseling is of paramount importance in either approach.
authors.affiliation: Iranian Fetal Medicine Foundation, Hope Generation Foundation, Tehran, Iran. saeed@ghaffari.org
authors.forename: S R
authors.initials: SR
authors.lastname: Ghaffari
authors.forename: A R
authors.initials: AR
authors.lastname: Tahmasebpour
authors.forename: A
authors.initials: A
authors.lastname: Jamal
authors.forename: S
authors.initials: S
authors.lastname: Hantoushzadeh
authors.forename: L
authors.initials: L
authors.lastname: Eslamian
authors.forename: V
authors.initials: V
authors.lastname: Marsoosi
authors.forename: F
authors.initials: F
authors.lastname: Fattahi
authors.forename: M
authors.initials: M
authors.lastname: Rajaei
authors.forename: S
authors.initials: S
authors.lastname: Niroomanesh
authors.forename: S
authors.initials: S
authors.lastname: Borna
authors.forename: A
authors.initials: A
authors.lastname: Beigi
authors.forename: S
authors.initials: S
authors.lastname: Khazardoost
authors.forename: S
authors.initials: S
authors.lastname: Saleh-Gargari
authors.forename: F
authors.initials: F
authors.lastname: Rahimi-Sharbaf
authors.forename: B
authors.initials: B
authors.lastname: Farrokhi
authors.forename: N
authors.initials: N
authors.lastname: Bayani
authors.forename: S E
authors.initials: SE
authors.lastname: Tehrani
authors.forename: K
authors.initials: K
authors.lastname: Shahsavan
authors.forename: S
authors.initials: S
authors.lastname: Farzan
authors.forename: S
authors.initials: S
authors.lastname: Moossavi
authors.forename: F
authors.initials: F
authors.lastname: Ramezanzadeh
authors.forename: J
authors.initials: J
authors.lastname: Dastan
authors.forename: M
authors.initials: M
authors.lastname: Rafati
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood*; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000196:embryology / Q000473:pathology; D002882:Chromosomes, Human, Pair 13; D004314:Down Syndrome / Q000175:diagnosis* / Q000196:embryology / Q000473:pathology; D005260:Female; D006801:Humans; D008423:Maternal Age; D008875:Middle Aged; D009295:Nasal Bone / Q000000981:diagnostic imaging* / Q000196:embryology / Q000473:pathology; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011266:Pregnancy-Associated Plasma Protein-A / Q000378:metabolism*; D011446:Prospective Studies; D018570:Risk Assessment; D014262:Tricuspid Valve Insufficiency / Q000000981:diagnostic imaging* / Q000196:embryology / Q000503:physiopathology; D057885:Triploidy; D014314:Trisomy / Q000175:diagnosis* / Q000473:pathology; D000073839:Trisomy 13 Syndrome; D016216:Ultrasonography, Prenatal; D055815:Young Adult
chemical_list: D015415:Biomarkers; D018997:Chorionic Gonadotropin, beta Subunit, Human; D011266:Pregnancy-Associated Plasma Protein-A