Advertisement

First Trimester Diagnosis of Sirenomelia: A Case Report

  • Shilpa SatarkarEmail author
Brief Communication
  • 3 Downloads

Abstract

Sirenomelia or the mermaid syndrome is a rare and lethal congenital anomaly. It is characterized by fusion of lower extremities. It is associated with bilateral renal agenesis, anomalies of rectum, sacrum, cardiovascular system and abdominal wall. Pathognomic finding is a single umbilical artery, the ‘persistent vitelline artery’ which distinguishes sirenomelia from caudal regression syndrome. Sirenomelia has strong association with maternal diabetes mellitus. We report a case of sirenomelia diagnosed in first trimester. Early diagnosis was possible as protocol-based anatomic evaluation was performed. Diagnosis of sirenomelia is easier in first trimester as severe oligohydramnios in later gestation hampers the fetal evaluation.

Keywords

First trimester fetal anomalies Early diagnosis Sirenomelia 

Notes

References

  1. 1.
    Van Keirsblick J, Cannie M, Robrechts C, De Ravel T, Dymarkowski S, Va Den Bosch T, et al. First trimester diagnosis of sirenomelia. Prenat Diagn. 2006;26:684–8.CrossRefGoogle Scholar
  2. 2.
    Schiesser M, Holzgreve W, Lapaire O, Willi N, Luthi H, et al. Sirenomelia, the mermaid syndrome-detection in the first trimester. Prenat Diagn. 2003;23:493–5.CrossRefGoogle Scholar
  3. 3.
    Morfaw FL, Nana PN. Sirenomelia in a Cameroonian women: a case report and review of the literature [v2; ref status; indexed, http://f1000r.es/QcTFxB]. F1000Research. 2013;1:6.  https://doi.org/10.12688/f1000research.1-6v2.CrossRefGoogle Scholar
  4. 4.
    Ladure H, D”herve D, Loget P, Poulain P. Prenatal diagnosis of sirenomelia. J Gynecol Obstet Biol Reprod (Paris). 2006;35:181–5.CrossRefGoogle Scholar
  5. 5.
    Akbayir O, Gundorduk K, Sudolmus S, Gulkilik A, Ark C. First-trimester diagnosis of sirenomelia: a case report and review of the literature. Arch Gynecol Obstet. 2008;278:589–92.CrossRefGoogle Scholar
  6. 6.
    Aslan H, Yanik H, Celikaslan N, Yildirim G, Ceylan Y. Prenatal diagnosis of caudal regression syndrome: a case report. BMC Pregnancy Childbirth. 2001;1:8.CrossRefGoogle Scholar
  7. 7.
    Gonzalez-Quintero VH, Tolaymat L, Martin D, Romaguera RL, Rodriguez MM, Izquierdo LA. Sonographic diagnosis of caudal regression in the first trimester of pregnancy. J Ultrasound Med. 2002;21:1175–8.CrossRefGoogle Scholar
  8. 8.
    Carbillon L, Seince N, Largelliere C, Bucourt M, Uzma M. First-trimester diagnosis of sirenomelia: a case report. Fetal Diagn Ther. 2001;16:284–8.CrossRefGoogle Scholar
  9. 9.
    Baxi L, Warren W, Collins MH, Timer-Tritsch IE. Early detection of caudal regression syndrome with transvaginal scanning. Obstet Gynecol. 1990;75:486–90.Google Scholar
  10. 10.
    Duesterhoeft SM, Ernst LM, Siebert JR, Kapur RP. Five cases of caudal regression with an aberrant abdominal umbilical artery: further support for a caudal regression-sirenomelia spectrum. Am J Med Genet A. 2007;143A:3175–84.CrossRefGoogle Scholar
  11. 11.
    Sadler TW, Rasmussen SA. Examining the evidence for vascular pathogenesis of selected birth defects. Am J Med Genet A. 2010;152A:2426–36 [PubMed].CrossRefGoogle Scholar
  12. 12.
    Naveena S, Mrudula C. Sirenomelia—the mermaid syndrome: a case report. IOSR J Dent Med Sci. 2013;7:01–4.Google Scholar
  13. 13.
    Stocker JT, Heifetz SA. Sirenomelia. A morphological study of 33 cases and review of the literature. Perspect Pediatr Pathol. 1987;10:7–50 [PubMed].Google Scholar
  14. 14.
    Raabe R, Hemsberger HR, Lee TG, Mukuno DH. Ultrasonographic antenatal diagnosis of “mermaid syndrome”: fusion of the fetal lower extremities. J Ultrasound Med. 1983;2:463–4.CrossRefGoogle Scholar

Copyright information

© Society of Fetal Medicine 2019

Authors and Affiliations

  1. 1.Antarang Sonography and Colour Doppler CenterAurangabadIndia

Personalised recommendations