Abstract
Neural tube defects (NTDs) occur during embryogenesis, specifically during the fifth or sixth week of gestation, and are described as aberrant neural tube closing. The defect may alter the normal development of the vertebrae, spinal cord, cranium, or brain. The present study describes the case of a 41-year-old pregnant woman with fetal sacral meningocele, no associated pathologies, no family history of neural tube defects, a pregnancy under folate supplementation with the aim of highlighting the importance of ultrasound in diagnosing neural tube defects. The ultrasonographic diagnosis was not clear from the beginning. In our case, the differential diagnosis of meningocele was made with the cystic compound of a sacrococcygeal teratoma, which represents one of the most common congenital tumors in newborns. The particularity of this case was that a neural tube defect occurred despite the prophylactic administration of folic acid during pregnancy, which represents a well-documented protection against neural tube defects in fetuses.
Highlights
Neural tube defects (NTDs) occur during embryogenesis, during the fifth or sixth week of gestation, and are described as aberrant neural tube closing
The present study describes the case of a 41-year-old pregnant woman with fetal sacral meningocele, no associated pathologies, no family history of neural tube defects, a pregnancy under folate supplementation with the aim of highlighting the importance of ultrasound in diagnosing neural tube defects
During the 10th week of gestation, the patient presented for an ultrasound examination, and a caudal abnormality was detected with the suspicion of a neural tube defect, and it was revised at the first-trimester morphology scan (Figure 1)
Summary
Neural tube defects (NTDs) occur during embryogenesis, during the fifth or sixth week of gestation, and are described as aberrant neural tube closing. The present study describes the case of a 41-year-old pregnant woman with fetal sacral meningocele, no associated pathologies, no family history of neural tube defects, a pregnancy under folate supplementation with the aim of highlighting the importance of ultrasound in diagnosing neural tube defects. During the 10th week of gestation, the patient presented for an ultrasound examination, and a caudal abnormality was detected with the suspicion of a neural tube defect, and it was revised at the first-trimester morphology scan (Figure 1). The patient returned at 14 weeks and 4 days of gestation for the first-trimester morphology scan and a well delimited 1.5 cm cystic formation, with anechogenic content, without vascularization, located at the caudal extremity of the fetus, an apparent intact sacral spine being detected (Figure 2). The pathology report supported the diagnosis of sacral meningocele (Figures 3–5)
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