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.

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.

• Authors: G Tonni, G Grisolia, M Bonasoni, M Panteghini, I Vito, C De Felice
• Journal: Archives of gynecology and obstetrics (Arch Gynecol Obstet) Vol. 284 Issue 2 Pg. 261-9 (Aug 2011) ISSN: 1432-0711 [Electronic] Germany
• PMID: 21475965 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Abnormalities, Multiple (diagnostic imaging)
• Anus, Imperforate (diagnostic imaging)
• Congenitally Corrected Transposition of the Great Arteries
• Diagnosis, Differential
• Disorders of Sex Development (diagnostic imaging)
• Hernia, Umbilical (diagnostic imaging)
• Humans
• Imaging, Three-Dimensional
• Nuchal Translucency Measurement
• Prognosis
• Scoliosis (diagnostic imaging)
• Transposition of Great Vessels (diagnostic imaging)
• Ultrasonography, Doppler, Color
• Urogenital Abnormalities (diagnostic imaging)