title: Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns.
abstract: Higher total homocysteine (tHcy) levels, and C677T and A1298C methylenetetrahydrofolate (MTHFR) polymorphisms, have been reported in preterm or full term newborns with neonatal encephalopathy following perinatal hypoxic-ischemic insult. This study investigated the causal role of tHcy and MTHFR polymorphisms together with other acquired risk factors on the occurrence of brain white matter abnormalities (WMA) detected by cranial ultrasound scans (cUS) in a population of late preterm and full term infants. A total of 171 newborns (81 M, 47.4%), 45 (26.3%) born <37 wks, and 126 (73.7%) born ≥37 wks were recruited in the study. cUS detected predominant WMA pattern in 36/171 newborns (21.1%) mainly characterized by abnormal periventricular white matter signal and mild-to-moderate periventricular white matter volume loss with ventricular dilatation (6/36, 16.6%). WMA resulted in being depending on tHcy levels (P < 0.014), lower GA (P < 0.000), lower Apgar score at 1 minutes (P < 0.000) and 5 minutes (P < 0.000), and 1298AC and 677CT/1298AC genotypes (P < 0.000 and P < 0.000). In conclusion, both acquired and genetic predisposing antenatal factors were significantly associated with adverse neonatal outcome and WMA. The role of A1298C polymorphism may be taken into account for prenatal assessment and treatment counseling.
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Neonatal Intensive Care, University of Messina, Messina, Italy.
authors.forename: Lucia M
authors.initials: LM
authors.lastname: Marseglia
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Nicotera
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Pediatric Genetics and Immunology, University of Messina, Messina, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Salpietro
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Giaimo
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Cardile
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Bonsignore
authors.affiliation: Department of Economical, Business and Environmental Sciences and Quantitative Methods, University of Messina, Messina, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Alibrandi
authors.affiliation: Department of Biomedical Sciences and Morpho-Functional Imaging, University of Messina, Messina, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Caccamo
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Neonatal Intensive Care, University of Messina, Messina, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Manti
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Neonatal Intensive Care, University of Messina, Messina, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: D'Angelo
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Neonatology, University of Messina, Messina, Italy.
authors.forename: Carmelo
authors.initials: C
authors.lastname: Mamì
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Di Rosa
mesh_terms: D015331:Cohort Studies; D003710:Demography; D004453:Echoencephalography; D005260:Female; D005838:Genotype; D006801:Humans; D020138:Hyperhomocysteinemia / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D016014:Linear Models; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D011247:Pregnancy; D047928:Premature Birth; D011296:Prenatal Diagnosis; D012307:Risk Factors; D066127:White Matter / Q000000981:diagnostic imaging / Q000503:physiopathology
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
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