Many thanks to the team at
Inside Surgery for including my
first (of three) posts related to the possible association of abnormalities in folate metabolism and methylation with risk for Down syndrome in Grand Rounds 3.37. My series on this subject was prompted by a patient who had that combination of problems. She had a history of
recurrent early pregnancy loss, was found to be homozygous for the C677T methylenetetrahydofolate reductase polymorphism, and finally (after being placed on
'therapy') carried a baby that unexpectedly had Down syndrome (trisomy 21).