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Poster Session I Thursday, January 26 • 10:30 AM - 12:00 PM • Octavius Ballroom| Volume 216, ISSUE 1, SUPPLEMENT , S125, January 01, 2017

195: The recurrence of sonographic soft markers - ominous sign or just genetics

      Objective

      “Soft markers” (SM) are minor, nonspecific structural findings which might convey a statistical likelihood for Down Syndrome (DS). However, their implementation into clinical use is still under debate. In our current study we set out to determine the recurrence rate of the common SM in consecutive pregnancies.

      Study Design

      This is a retrospective study of all women who underwent 1st or 2nd fetal sonographic anatomical screening at a private institution during the years of 1995-2016. All ultrasound screening examinations were performed by a single observer (M.B). The examined SM were pyelectasis, thickened nuchal fold (TNF) and intracardiac echogenic foci (EIF). All the affected cases were documented and compiled in a local database. Data on recurrence and pregnancy outcome was retrieved retrospectively.

      Results

      20,672 singleton pregnancies were included in our database. SM were detected in 2099 (9.84%) of the fetuses. Markers were found to be isolated in 80 % (1695) of the cases. The rate of EIF as a solitary finding was 6.5% (1360/20672) of pregnancies, the rate of solitary TNF was 3.3% (624/18850) and pyelectasis 1.7% (363/20672). Of the 283 pregnancies affected by EIF in their 1st pregnancy who performed ultrasound anatomy screening in their following pregnancy, 60 were diagnosed with repeated EIF (recurrence rate of 21%). The recurrence rate of TNF was 27% (47/168) and of pyelectasis was found to be 16% (18/113) with similar ratio between males and females. Overall, DS rate in our data was 1:525 pregnancies. No cases of DS were diagnosed in the patients with recurrent SM.

      Conclusion

      The high recurrence rate of solitary SM such as EIF, TNF and pyelectasis imply an autosomal recessive inheritance. These results, might improve our counseling for pregnant women affected by solitary SM re-appearance. Further studies must be performed in order to adjust the LR for SM if recurrence occurs.