Cerebral ultrasound abnormalities in offsprings of women with C677T homozygous mutation in the MTHFR gene:a prospective study

作     者：Laura Pogliani Chiara Cerini Francesca Penagini Piergiorgio Duca Chiara Mameli Gian Vincenzo Zuccotti 

作者机构：Department of PediatricsL.Sacco HospitalUniversity of Milan74 GB GrassiMilanIT 20157Italy Department of Clinical SciencesL.Sacco HospitalUniversity of Milan74 GB GrassiMilanIT 20157Italy 

出 版 物：《World Journal of Pediatrics》 (世界儿科杂志（英文版）)

年 卷 期：2015年第11卷第2期

页      面：134-140页

核心收录：

学科分类：1004[医学-公共卫生与预防医学(可授医学、理学学位)] 1002[医学-临床医学] 10[医学] 

主　　题：cerebral ultrasound maternal thrombophilia methylenetetrahydrofolatereductase polymorphism perinatal stroke 

摘      要：Background:Perinatal stroke is a common cause of neurologic *** clinically under-recognized,its true incidence is not *** thrombophilia is likely to be a predisposing *** date,a general consensus for evaluation of babies born to mothers with genetic thrombotic predisposition is *** 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 ***:Mother-infant pairs were consecutively recruited from October 2006 through February *** underwent a thorough physical examination at birth,and a cerebral ultrasound examination(cUS)was performed within 24 hours of their *** neonates with major cerebral lesions,a thrombophilia panel test was ***-up cUS was performed in babies with major or minor cerebral ***:Ninety-one neonates(47 males)were *** cUS,abnormalities were detected in 18(19.8%)*** neonates were diagnosed with a minor lesion;a major ischemic/hemorrhagic lesion was found in 6 *** 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 ***:Our data confirmed a high incidence of cerebral abnormalities in neonates born to women with C677T homozygous mutation in the MTHFR *** 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.