title: Clinical spectrum of neural tube defects with special reference to karyotyping study.
abstract: BACKGROUND
  Neural tube defects are common congenital malformations of the central nervous system. Despite years of intensive epidemiological, clinical, and experimental research, the exact etiology of NTD remains rather complex and poorly understood. The present study attempted to look into the association of occurrence of NTD with reference to folic acid levels, along with karyotyping status.
  
  
  METHODS
  Detailed history was taken with emphasis on age of the baby and mother, parity, antenatal folic acid intake. Five milliliters of blood was drawn from all the babies and their mothers and divided equally in preheparinized vials (for karyotyping) and plain vials (for folic acid estimation). The total duration was 2 years.
  
  
  RESULTS
  The total number (n) in the study group was 75. The folic acid level was less in affected babies and their mother when compared to matched controls. Chromosomal defect was observed in nine of the 75 patients. Karyotyping defects were higher in children born to mothers of the age group 31-40 years and when their birth order was second.
  
  
  CONCLUSIONS
  Folic acid supplementation needs to be continued to prevent the occurrence of NTD, and the perinatal identification of NTD should alert one to the possibility of chromosomal abnormalities and prompt a thorough cytogenetic investigation and genetic counseling.
authors.affiliation: Department of Pediatric Surgery, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
authors.forename: Vijayendra
authors.initials: V
authors.lastname: Kumar
authors.forename: Anutosh
authors.initials: A
authors.lastname: Singh
authors.forename: Shiv Prasad
authors.initials: SP
authors.lastname: Sharma
authors.forename: Arvind
authors.initials: A
authors.lastname: Srivastava
authors.forename: Ajit
authors.initials: A
authors.lastname: Saxena
authors.forename: Ajay Narayan
authors.initials: AN
authors.lastname: Gangopadhyay