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Archives of Gynecology and Obstetrics

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01-08-2016 | Maternal-Fetal Medicine

New osseous soft markers for trisomy 13, 18 and 21

Authors: Annika Achter, Thomas Hager, Rolf Fimmers, Ulrich Gembruch, Annette M. Müller

Published in: Archives of Gynecology and Obstetrics | Issue 2/2016

Abstract

Introduction

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.

Methods

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).

Results

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.

Conclusion

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.

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Title: New osseous soft markers for trisomy 13, 18 and 21
Authors: Annika Achter
Thomas Hager
Rolf Fimmers
Ulrich Gembruch
Annette M. Müller
Publication date: 01-08-2016
Publisher: Springer Berlin Heidelberg
Published in: Archives of Gynecology and Obstetrics / Issue 2/2016
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-015-3971-z

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

New osseous soft markers for trisomy 13, 18 and 21

Abstract

Introduction

Methods

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Introduction

Methods

Results

Conclusion

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