title: Genetic, chromosomal, and syndromic causes of neural tube defects.
abstract: OBJECTIVE
  To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes.
  
  
  METHODS
  We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data.
  
  
  RESULTS
  Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies.
  
  
  CONCLUSIONS
  There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions.
authors.affiliation: Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Kingdom of Saudi Arabia. E-mail: zainsidahmed@hotmail.com.
authors.forename: Mohammed Z
authors.initials: MZ
authors.lastname: Seidahmed
authors.forename: Omer B
authors.initials: OB
authors.lastname: Abdelbasit
authors.forename: Meeralebbae M
authors.initials: MM
authors.lastname: Shaheed
authors.forename: Khalid A
authors.initials: KA
authors.lastname: Alhussein
authors.forename: Abeer M
authors.initials: AM
authors.lastname: Miqdad
authors.forename: Abdulmohsen S
authors.initials: AS
authors.lastname: Samadi
authors.forename: Mohammed I
authors.initials: MI
authors.lastname: Khalil
authors.forename: Elham
authors.initials: E
authors.lastname: Al-Mardawi
authors.forename: Mustafa A
authors.initials: MA
authors.lastname: Salih
mesh_terms: D002869:Chromosome Aberrations; D002925:Ciliary Motility Disorders / Q000235:genetics; D003241:Consanguinity; D004677:Encephalocele / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009436:Neural Tube Defects / Q000235:genetics*; D007690:Polycystic Kidney Diseases / Q000235:genetics; D012174:Retinitis Pigmentosa; D012189:Retrospective Studies; D013577:Syndrome