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First trimester diagnosis of sirenomelia: a case report and review of the literature

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Abstract

Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies, including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios, and the presence of aberrant vasculature. The etiology is still controversial. Prognosis is very poor, with the babies being stillborn or succumbing soon after birth. In the second trimester, oligohydramnios due to renal agenesis makes the diagnosis of sirenomelia difficult. Conversely, in the first trimester, the amniotic fluid volume is usually normal, unrelated to the fetal urine production. Therefore, a first-trimester or early second trimester anatomic survey of the fetus is proposed as preferable and more accurate for the diagnosis of this rare anomaly. In this article, we report a case of sirenomelia detected by two- and three-dimensional ultrasound in the 11th week of gestation and the associated literature is discussed.

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Authors and Affiliations

  1. Maternal and Fetal Unit, Department of Obstetrics and Gynecology, Istanbul Bakirkoy Women and Children Hospital Istanbul, Istanbul, Turkey

    Ozgur Akbayir, Kemal Gungorduk, Sinem Sudolmus, Ahmet Gulkilik & Cemal Ark

  2. Kartaltepe Mah.Gülbeşeker Sok, No: 1/4 Bakırköy, Istanbul, Turkey

    Kemal Gungorduk

Authors
  1. Ozgur Akbayir
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  2. Kemal Gungorduk
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  3. Sinem Sudolmus
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  4. Ahmet Gulkilik
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  5. Cemal Ark
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Correspondence to Kemal Gungorduk.

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Akbayir, O., Gungorduk, K., Sudolmus, S. et al. First trimester diagnosis of sirenomelia: a case report and review of the literature. Arch Gynecol Obstet 278, 589–592 (2008). https://doi.org/10.1007/s00404-008-0619-2

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  • DOI: https://doi.org/10.1007/s00404-008-0619-2

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