title: Cerebral ultrasound abnormalities in offsprings of women with C677T homozygous mutation in the MTHFR gene: a prospective study.
abstract: BACKGROUND
  Perinatal stroke is a common cause of neurologic disability. Being clinically under-recognized, its true incidence is not known. Maternal thrombophilia is likely to be a predisposing factor. To date, a general consensus for evaluation of babies born to mothers with genetic thrombotic predisposition is missing. This study was undertaken to assess the frequency of cerebral abnormalities in the offspring of women with homozygous C677T mutation in the MTHFR gene, and to seek for association with additional maternal or pregnancy risk factors.
  
  
  METHODS
  Mother-infant pairs were consecutively recruited from October 2006 through February 2013. Neonates underwent a thorough physical examination at birth, and a cerebral ultrasound examination (cUS) was performed within 24 hours of their life. In neonates with major cerebral lesions, a thrombophilia panel test was obtained. Follow-up cUS was performed in babies with major or minor cerebral abnormalities.
  
  
  RESULTS
  Ninety-one neonates (47 males) were enrolled. By cUS, abnormalities were detected in 18 (19.8%) neonates. Twelve neonates were diagnosed with a minor lesion; a major ischemic/hemorrhagic lesion was found in 6 neonates. There were a neat male preponderance and significant associations with a history of suspected miscarriage, maternal coagulation factors gene mutations, and reduced protein S or protein C activity.
  
  
  CONCLUSIONS
  Our data confirmed a high incidence of cerebral abnormalities in neonates born to women with C677T homozygous mutation in the MTHFR gene. cUS at birth proved to be an effective screening tool or a diagnostic test, that should be routinely performed in babies born to mothers with known thrombotic predisposition.
authors: Department of Pediatrics, University of Milan, 74 GB Grassi, Milan, IT, 20157, Italy.
authors: Laura
authors: L
authors: Pogliani
authors: Chiara
authors: C
authors: Cerini
authors: Francesca
authors: F
authors: Penagini
authors: Piergiorgio
authors: P
authors: Duca
authors: Chiara
authors: C
authors: Mameli
authors: Gian Vincenzo
authors: GV
authors: Zuccotti
mesh_terms: D000328:Adult; D002561:Cerebrovascular Disorders / Q000151:congenital* / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006720:Homozygote; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020125:Mutation, Missense; D011446:Prospective Studies; D012307:Risk Factors; D014463:Ultrasonography
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)