title: New osseous soft markers for trisomy 13, 18 and 21.
abstract: For ultrasonographic diagnosis of a fetal trisomy so-called "soft markers" (=ultrasonographically detectable morphological variants) are used. Detection of a certain number of them increases the diagnostic certainty of a fetal trisomy. Up to now there are very few diagnostically accepted osseous soft markers for trisomy. Hence potential osseous soft markers applicable for first and second trimester ultrasound screening for trisomy 21, 18 or 13 were studied.
  
  
  
  Postmortal fetal X-rays (ap, lateral) of 358 fetuses (trisomy 21: n = 109, trisomy 18: n = 46; trisomy 13: n = 38, control group: n = 165).
  
  
  
  Not yet described but with trisomy 21 statistically associated soft markers were un-timely os sternale ossification, delayed os sacrum ossification, shortened os maxillare, reduced os maxillare-jaw-corner distance, augmented orbita height, premature os calcaneus ossification, bell-shaped thorax, coronal clefts, trend to wider binocular as well as wider intraocular distances; for trisomy 18: elevated clavicula slope, reduced number of ribs, bell-shaped thorax, coronal clefts, reduced os maxillare-jaw-corner distance, shortened ramus mandibulare, shortened os metacarpale IV and V, augmented ratio between biparietal diameter and (osseus and soft-tissue) shoulder width; for trisomy 13: longer os nasale, elevated clavicula slope, premature sternum, delayed os sacrum ossification, delayed/premature cranium ossification, reduced number of ribs, coronal clefts, reduced os maxillare-jaw-corner distance, shortened ramus mandibulare, augmented orbita height, shortened os metacarpale V and a tendency for a shortened os metacarpale IV.
  
  
  
  We found several not yet published osseous soft markers statistically associated with trisomy 21, 18 and 13, which can help to ensure sonographically these aneuploidy diagnoses.
authors.affiliation: Center of Pediatric Pathology and Pathology, MVZ Venusberg, University Clinic Bonn, Sigmund-Freud-Strasse 25, 53127, Bonn, Germany.|Department of Internal Medicine, University-Hospital of Bern, 3010, Bern, Switzerland.
authors.forename: Annika
authors.initials: A
authors.lastname: Achter
authors.affiliation: Institute of Pathology, University Hospital of Essen/University Duisburg-Essen, Hufelandstrasse 55, 45147, Essen, Germany. thomas.hager@uk-essen.de.
authors.forename: Thomas
authors.initials: T
authors.lastname: Hager
authors.affiliation: Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Sigmund-Freud Str. 25, 53127, Bonn, Germany.
authors.forename: Rolf
authors.initials: R
authors.lastname: Fimmers
authors.affiliation: Department of Obstetrics and Prenatal Medicine, University of Bonn, Sigmund-Freud Str. 25, 53127, Bonn, Germany.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Gembruch
authors.affiliation: Center of Pediatric Pathology and Pathology, MVZ Venusberg, University Clinic Bonn, Sigmund-Freud-Strasse 25, 53127, Bonn, Germany.
authors.forename: Annette M
authors.initials: AM
authors.lastname: Müller
mesh_terms: D000782:Aneuploidy; D015415:Biomarkers; D025063:Chromosome Disorders / Q000175:diagnosis*; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D005333:Fetus; D006801:Humans; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012189:Retrospective Studies; D014314:Trisomy / Q000175:diagnosis*; D000073839:Trisomy 13 Syndrome; D000073842:Trisomy 18 Syndrome
chemical_list: D015415:Biomarkers
keywords: Fetal X-rays; Osseous soft marker; Trisomy 13; Trisomy 18; Trisomy 21