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Prenatal diagnosis of OEIS (omphalocele, bladder exstrophy, imperforate anus, clubfeet) variant associated with increased nuchal translucency and OEIS complex with ambiguous genitalia associated with corrected transposition of the great arteries: case series and review of the literature

  • Materno-Fetal Medicine
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Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Introduction

The OEIS complex refers to a combination of defects consisting in omphalocele, bladder exstrophy, imperforate anus and spinal defects and represents a rare nosologic entity (from 1:200,000 to 1:400,000 pregnancies). The defect probably occurs in early blastogenesis or in mesodermal migration during the primitive streak period.

Materials and methods

Two cases of OEIS complex diagnosed prenatally by ultrasound are reported. The medical record regarding differential diagnosis, associated anomalies, treatment and prognosis has also been sought and reported.

Conclusion

Differential diagnosis with exstrophy-epispadias complex and/or cloacalexstrophy complex may be difficult antenatally by means of ultrasound. However, color Doppler has been proved to aid the diagnosis of bladder exstrophy by depicting the urine flow in direct communication with the abdominal cavity and has been useful in showing the course of the perivesical umbilical arteries. Prenatal 3D ultrasound with tomographic ultrasound imaging (TUI) and antenatal MR imaging might be useful adjuncts to conventional 2D scan in aiding the prenatal diagnosis of such malformation.

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Acknowledgment

This manuscript is dedicated to the memory of Tonni Romano, a great father and a bright example of ethics and morality.

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Authors and Affiliations

  1. Prenatal Diagnostic Service, AUSL Reggio Emilia, Via Amendola, 1, 42100, Reggio Emilia, Italy

    G. Tonni, M. Panteghini & I. Vito

  2. Prenatal Diagnostic Service, Azienda Ospedaliera “Carlo Poma”, Mantua, Mantua, Italy

    G. Grisolia

  3. Pathologic Anatomy, Arcispedale “Santa Maria Nuova”, Reggio Emilia, Italy

    M. Bonasoni

  4. Neonatal Intensive Care Unit, Hospital “Santa Maria alle Scotte”, University of Siena, Siena, Italy

    C. De Felice

  5. Prenatal Diagnostic Service, Guastalla Civil Hospital, Via Donatori Sangue, 2, 42016, Guastalla, Reggio Emilia, Italy

    G. Tonni

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  1. G. Tonni
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  4. M. Panteghini
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Correspondence to G. Tonni.

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Tonni, G., Grisolia, G., Bonasoni, M. et al. Prenatal diagnosis of OEIS (omphalocele, bladder exstrophy, imperforate anus, clubfeet) variant associated with increased nuchal translucency and OEIS complex with ambiguous genitalia associated with corrected transposition of the great arteries: case series and review of the literature. Arch Gynecol Obstet 284, 261–269 (2011). https://doi.org/10.1007/s00404-011-1900-3

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