Birth Defects of the Reproductive System

Birth defects of the reproductive system are common, occurring in approximately 1 in 400 women. The reproductive system is derived from two tubes (the Mullerian ducts) which fuse in the midline followed by absorption of the central portion. The upper portion forms the fallopian tubes and uterus, the lower portion forms the vagina. Defects in this developmental process may include absence of the structures (Mullerian agenesis) and abnormalities in fusion and absorption.

Birth defects of the uterus can be diagnosed with ultrasound, sonohysterography, MRI or surgery. An X-ray hysterosalpingogram or hysteroscopy may suggest the presence of an abnormality; however, since neither test gives information regarding the outside of the uterus, other tests must be done to confirm the diagnosis.