Overview of neural tuba defects Nöral tüp defektlerinin gözden geçirilmesi
SENDROM, cilt.17, sa.11, ss.97-101, 2005 (Scopus)
- Yayın Türü: Makale / Derleme
- Cilt numarası: 17 Sayı: 11
- Basım Tarihi: 2005
- Dergi Adı: SENDROM
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.97-101
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Human neural tube defects (NTDs) are among the most common congenital defects. The NTDs spina bifida, anencephaly and encephalocele are widely prevalent severe birth defects. NTDs are congenital structural abnormalities of the brain and vertebral column that occur either as an isolated malformation along with other malformations, or as part of a genetic syndrome. Isolated NTDs occur in 1.4-2 per 1.000 pregnancies and are the second most common major conjenital anomalies worldwide. NTDs develop as a result of failure of neural tube closure between 3rd and 5th gestational weeks. This failure can cause soft structure anomalies (spina bifida, lumbal meningocele) or can contain neural tissues (meningomyelocele, encephalocele). NTD has a polygenic background. There are numerous genes known to be high-risk genetic factors for NTDs. These genes are methylenetetrahydrofolate reductase (MTHFR) gene, zinc gene, PAX family (p.84) gene, ephrin-A5 and integrin alpha-6 genes, NF-kappa B/l kapa B gene, murine folate binding protein-1 (Folbp1) gene and mitochondrial membrane transporter gene (UCP2). There are several genetic polymorphisms that are associated with defects in folate and vitamin B12-dependent homocysteine metabolism. Besides genetic factors, there are impact of some nutrients like folic acid. The antiepileptic drug valproic acid is well known to cause neural tube and skeletal defects in both humans and animals. Maternal diabetes, gestational obesity, hyperinsulinemia, and sweets have been associated with increased risk of NTDs. Parents of children with an NTD are at increased risk for the recurrence of NTD in future pregnancies The combined use of the maternal serum alpha-fetoprotein (MSAFP) assay with detailed diagnostic ultrasonography approaches the accuracy of amniotic fluid alpha-fetoprotein (AFAFP) and ultrasound for the detection of an apparent NTDs. After reviewing the published literature, we discuss in this concise article etiology and prenatal diagnosis of NTDs. Adequate periconceptional folic acid consumption lowers the risk for NTDs.