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Association between increased yolk sac diameter and abnormal karyotypes

  • Ksenija Gersak EMAIL logo , Alenka Veble , Zuber D. Mulla and Sanja Kupesic Plavsic
Published/Copyright: January 10, 2012
Journal of Perinatal Medicine
From the journal Volume 40 Issue 3

Abstract

Aims: To investigate the association between increased yolk sac diameter and abnormal karyotype.

Methods: Retrospective analysis of 42 patients with no history of diabetes between 6 and 12 weeks of gestation with increased yolk sac diameter measuring ≥6mm was evaluated by transvaginal ultrasound. Sonographic findings were correlated with karyotype. The Fisher’s exact test and exact conditional logistic regression analysis were used for statistical analysis.

Results: Chromosome abnormalities were found in 76.2% of chorionic villi samples. A statistically significant relationship between karyotype and missed abortion was detected (P=0.001). None of the patients with a yolk size diameter ≥8mm and viable pregnancy had a normal karyotype. Trisomy 15 or 16 was strongly associated with missed abortion (unadjusted odds ratio=14.97, P=0.01). Nine patients with viable pregnancy had a yolk sac ≥6mm (six patients with normal karyotype, one patient with monosomy X, one patient with trisomy 16, and one patient with trisomy 21).

Conclusion: Our data indicate that enlarged yolk sac may also be visualized in viable pregnancies. Patients with an enlarged yolk sac and normal karyotype require detailed ultrasound evaluation in the second and third trimester.


Corresponding author: Ksenija Gersak, MD, PhD Department of Obstetrics and Gynecology University Medical Center Ljubljana Slajmerjeva 3 1000 Ljubljana Slovenia Tel.: +386 1 522 51 81 Fax: +386 1 522 22 21

Received: 2011-11-9
Accepted: 2011-12-6
Published Online: 2012-01-10
Published in Print: 2012-04-01

©2012 by Walter de Gruyter Berlin Boston

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