Myelomeningocele Including Fetal Prescription.

Myelomeningocele (MMC) is one of the most common birth defects, affecting 0.2 to 0.4 per 1,000 live births in the United States. The most strongly associated risk factor is low folate level in pregnancy. For this reason, 0.4- to 1.0-mg supplementation with folic acid is recommended in all pregnancies, and high-risk pregnancies are recommended to supplement with 4.0 mg of folic acid daily. The mechanism behind the development of MMC is believed to be failure of the caudal end of the neural tube to close during primary neurulation. Screening for MMC is achieved by using α-fetoprotein levels in maternal serum or amniocentesis in the first and second trimesters of pregnancy. Ultrasonography and fetal magnetic resonance imaging are used to confirm the presence of MMC as well as the location and size of the defect. Based on the results of the Management of Myelomeningocele Study, fetal repair is performed between 23 weeks and 25 weeks and 6 days of gestational age for appropriate candidates. Postnatal repair is more common and is performed 24 to 72 hours after birth. In general, patients with lesions at lower anatomical levels have a better prognosis. Most children with MMC will have neurogenic bladder and bowel dysfunction that affect the patient's and the caregiver's quality of life. Patients with higher levels of mobility, better familial support, and higher economic status report improved quality of life compared with other patients with MMC.
(© American Academy of Pediatrics, 2022. All rights reserved.)