Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases

Area of Science:

• Medical Genetics
• Prenatal Diagnosis
• Developmental Biology

Background:

• The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare congenital anomaly, often associated with the bladder exstrophy epispadias complex.
• The etiology of OEIS complex is largely unknown, and its rarity limits comprehensive prenatal characterization.
• Understanding the prenatal spectrum is crucial for accurate diagnosis and management.

Purpose of the Study:

• To describe the prenatal findings and associated malformations in a series of fetuses diagnosed with OEIS complex.
• To delineate the phenotypic spectrum of OEIS complex during prenatal development.
• To contribute to the limited existing literature on the prenatal diagnosis of this rare condition.

Main Methods:

• Retrospective analysis of prenatal ultrasound findings in 12 cases diagnosed with OEIS complex.
• Detailed documentation of major and minor malformations identified.
• Correlation of imaging findings with available clinical and genetic data (karyotype).

Main Results:

• All 12 fetuses exhibited bladder exstrophy.
• Commonly observed anomalies included omphalocele (9/12), anal atresia (9/12), and neural tube defects (10/12).
• Additional findings included vertebral defects (4/12), lower extremity anomalies (5/12), single umbilical artery (4/12), hydrocephalus, hypertelorism, and visceral malformations. Notably, 11/11 karyotyped fetuses had normal karyotypes.

Conclusions:

• The prenatal diagnosis of OEIS complex involves a recognizable pattern of severe congenital anomalies.
• The findings highlight the significant variability and spectrum of malformations associated with OEIS complex.
• This case series aids in understanding the prenatal presentation and emphasizes the importance of comprehensive evaluation in suspected cases.