Background: Spina Bifida Myelomeningocele is the most common nonlethal neural tube defect in North America, that is associated with some anomalous development of brain structure especially chiari-malformation, musculoskeletal system, renal system, and cardiovascular system. Genetic factors are infrequent causes of NTDs such as deletion of 22q11.
Case presentation: Prenatal ultrasonography of 29 week aged fetus with normal maternal serum alpha fetoprotein found polyhydramnios and abnormal cystic mass in lower spine recommended for myelomeningocele. Fetus MRI demonstrated terminal closed myelomeningocele and tethered cord, obliteration of cisterna magna without other cerebral anomalies such as Chiari II malformation. After birth the patient had respiratory distress with the same finding. More evaluation showed multiple cardiac abnormalities and deletion of 22q11 that is a rare cause of NTDs.
Conclusion: Identification of NTDs should be considered as a warning sign for other syndrome or disorder, and prompt a thorough etiologic investigation and genetic counseling.