Maternal methylenetetrahydrofolate reductase (MTHFR) homozygosity and neonatal outcome: follow-up of 42 pregnancies at risk

J Child Neurol. 2010 Jun;25(6):701-4. doi: 10.1177/0883073809344622. Epub 2010 Mar 31.

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.

MeSH terms

  • Alleles
  • Birth Weight / genetics
  • Echoencephalography
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Infant, Newborn
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Pregnancy
  • Pregnancy Complications, Hematologic / genetics*
  • Pregnancy Outcome
  • Prospective Studies
  • Risk
  • Statistics, Nonparametric
  • Thrombophilia / genetics*

Substances

  • Methylenetetrahydrofolate Reductase (NADPH2)