title: Minor sonographic signs of trisomy 21 at 15-20 weeks' gestation in fetuses born without malformations: a prospective study.
abstract: A prospective study was performed on 2119 pregnancies that underwent genetic amniocentesis. Indications for amniocentesis were either maternal age (> or =35) or triple-test results (risk> or =1/380). The study covered a 36-month period and assessed the prevalence of minor ultrasound markers both in fetuses with Down syndrome and normal control fetuses at 15-19 week' gestation. Only fetuses with normal karyotype or trisomy 21 were considered. Six minor sonographic markers were considered: nuchal thickness, pyelectasia, femur observed/expected and humerus observed/expected ratios, bowel echogenicity, and choroid plexus cysts. One or more ultrasound soft markers were present in 23 out of 33 fetuses with Down syndrome (70%) and in 572 out of 2069 normal fetuses (28%).
authors.affiliation: Ultrasound and Prenatal Diagnosis Centre, Sant'Anna Hospital, Turin, Italy. eviora@etabeta.it
authors.forename: E
authors.initials: E
authors.lastname: Viora
authors.forename: G
authors.initials: G
authors.lastname: Errante
authors.forename: S
authors.initials: S
authors.lastname: Bastonero
authors.forename: A
authors.initials: A
authors.lastname: Sciarrone
authors.forename: M
authors.initials: M
authors.lastname: Campogrande
mesh_terms: D000649:Amniocentesis; D015415:Biomarkers; D002831:Choroid Plexus / Q000000981:diagnostic imaging; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging*; D003560:Cysts / Q000000981:diagnostic imaging; D004314:Down Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging*; D005189:False Positive Reactions; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging; D005865:Gestational Age; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging; D007668:Kidney / Q000000981:diagnostic imaging; D009333:Neck / Q000000981:diagnostic imaging; D016017:Odds Ratio; D011247:Pregnancy; D011446:Prospective Studies; D016216:Ultrasonography, Prenatal
chemical_list: D015415:Biomarkers