title: Maternal methylenetetrahydrofolate reductase (MTHFR) homozygosity and neonatal outcome: follow-up of 42 pregnancies at risk.
abstract: From February 2006 to March 2008, 42 pregnant women homozygous for the 677CT-methylenetetrahydrofolate reductase (MTHFR) allele were recruited in our obstetrics service for pregnancy at risk. All had antithrombotic prophylaxis with low-dose aspirin and/or low-molecular-weight heparin, supplemented with folic acid. In all, 2 women lost the fetus and 4 were lost to follow-up before delivery. A total of 36 women delivered term infants who all underwent transfontanellar ultrasonography within 24 hours of birth. Six (16.6%) had ischemic or hemorrhagic cerebral lesions. No differences were observed in gestational age, birth weight, or umbilical cord pH between the 30 healthy infants and the 6 with cerebral lesions. Neonatal outcomes were negative in spite of maternal folic acid supplementation and antithrombotic prophylaxis during pregnancy. This suggests a relationship between maternal homozygous mutation in the 677CT-MTHFR allele and neonatal cerebral lesions.
authors.affiliation: Department of Pediatrics, Università di Milano, Luigi Sacco Hospital, Milan, Italy. laura_pogliani@libero.it
authors.forename: Laura
authors.initials: L
authors.lastname: Pogliani
authors.forename: Luisa
authors.initials: L
authors.lastname: Muggiasca
authors.forename: Luisa
authors.initials: L
authors.lastname: Arrigoni
authors.forename: Edoardo
authors.initials: E
authors.lastname: Rossi
authors.forename: Gianvincenzo
authors.initials: G
authors.lastname: Zuccotti
mesh_terms: D000483:Alleles; D001724:Birth Weight / Q000235:genetics; D004453:Echoencephalography; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000235:genetics*; D011256:Pregnancy Outcome; D011446:Prospective Studies; D012306:Risk; D018709:Statistics, Nonparametric; D019851:Thrombophilia / Q000235:genetics*
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)