NEURAL TUBE CLOSURE DEFECTS: EMBRYOLOGIC, CLINICAL AND PREVENTIVE ASPECTS

Abstract

Thanks to the progressive advancement of prenatal genetic diagnosis techniques, both from the clinical, biochemical and genetic point of view, the detection of certain diseases of the embryo and fetus has improved, particularly central nervous system anomalies. The introduction of ultrasonography has allowed early diagnosis of these anomalies, minimizing the need for invasive procedures that could compromise fetal viability (Bianchi et al., 2019). Advances in ultrasound have been spectacular, the result of the efforts of numerous researchers who have developed equipment with greater resolution capacity, making it possible to evaluate the product of gestation from its embryonic stage. These new procedures have significantly improved diagnostic accuracy and the identification of complications in a large number of diseases of the central nervous system, in particular neural tube closure defects (NTDs). Therefore, in this research the pathologies related to NTDs are reviewed, with a special focus on the biomolecular aspects of embryonic development, epidemiological factors and the usefulness of screening by alpha-fetoprotein (AFP) in maternal serum and amniotic fluid, as well as high-resolution ultrasound as a complementary diagnostic method. In addition, preventive strategies to reduce the incidence and recurrence of these anomalies are addressed. This research represents a significant contribution to the understanding of the pathologies that can be diagnosed by biochemical and ultrasound screening, facilitating their follow-up and management by professionals in obstetrics, perinatology and genetics.

DOI: https://doi.org/10.56238/sevened2025.023-001