title: Efficacy of the biparietal diameter/femur length ratio to detect Down syndrome in patients with an abnormal biochemical screen.
abstract: Abnormal fetal biometry is considered a marker for fetal trisomy. We prospectively evaluated the biparietal diameter/femur length ratio to identify Down syndrome fetuses. This ratio was calculated when women (< 35 years old) underwent an amniocentesis for an abnormal biochemical screen for Down syndrome. Using reported ratio cut-offs (> 1.5 SD above the mean), the ratio had a sensitivity of 50% (3/6), specificity of 92% (244/264), positive predictive value of 13% (3/23), negative predictive value of 99% (244/247), and a relative risk of 10.8. Using our own population ratio, a cut-off > 1.5 SD had a sensitivity of 50% (3/6), specificity of 94% (249/252), positive predictive value of 17% (3/18), negative predictive value of 99% (249/252) and a relative risk of 13.9. A lower cut-off decreased the efficacy to detect Down syndrome. A ratio > 1.5 SD above the mean is a useful adjunct to identify Down syndrome in pregnancies at risk by an abnormal biochemical screen.
authors.affiliation: Department of Obstetrics and Gynecology, University of Connecticut Health Center, John Dempsey Hospital, Farmington.
authors.forename: W A
authors.initials: WA
authors.lastname: Campbell
authors.forename: A M
authors.initials: AM
authors.lastname: Vintzileos
authors.forename: J F
authors.initials: JF
authors.lastname: Rodis
authors.forename: L
authors.initials: L
authors.lastname: Ciarleglio
authors.forename: A
authors.initials: A
authors.lastname: Craffey
mesh_terms: D000328:Adult; D001699:Biometry; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D005269:Femur / Q000033:anatomy & histology / Q000196:embryology*; D005865:Gestational Age; D006801:Humans; D010294:Parietal Bone / Q000033:anatomy & histology / Q000196:embryology*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D012016:Reference Values; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000032:analysis*
chemical_list: D000509:alpha-Fetoproteins