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Updated: Jun 8, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Is the yolk sac a new marker for chromosomal abnormalities in early pregnancy?
Peter Schmidt1, Cindy Hörmansdörfer, Stephan Bosselmann
1Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg, Germany. info@dr-schmidt.info
Introduction:
Abnormal yolk sac size is associated with fetal miscarriage. This is a case report of two pregnancies with abnormal yolk sacs.
Materials And Methods:
In one case, a twofold sac was found; in the other case, the yolk sac was not of spherical form.
Conclusion:
Currently available publications demonstrate a correlation between abnormal yolk sac size and miscarriage. However, in both cases a trisomy was confirmed. It should therefore be discussed whether form and size of the yolk sac could be a marker for chromosomal abnormalities of the fetus.
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