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Amniotic fluid folate, vitamin B 12 and transcobalamins in neural tube defects
Author(s) -
GardikiKouidou P.,
Seller Mary J.
Publication year - 1988
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1988.tb03478.x
Subject(s) - anencephaly , neural tube , vitamin b12 , amniotic fluid , fetus , neural tube defect , spina bifida , endocrinology , medicine , gestation , vitamin , pregnancy , biology , chemistry , embryo , genetics
Levels of folate, vitamin B 12 , the vitamin B 12 binding proteins, apotranscobalamin I, II and III (TC I, II and III) and the unsaturated vitamin B 12 binding capacity (UBBC) were measured in mid‐trimester amniotic fluids from normal pregnancies, and from those where the fetus had open spina bifida, anencephaly or omphalocoele, and where the fetus was normal but the mother had had a previous neural tube defect pregnancy. At 15–19 weeks' gestation, vitamin B 12 levels were low in the fluids of all the types of abnormal fetuses, and also of normal fetuses where there had been a previous NTD sib. In contradistinction, TC I, II and III and UBBC levels were generally abnormally high in all these groups. Low vitamin B 12 levels in the face of high carrier protein levels suggest deranged vitamin B 12 production or transport. Since these abnormalities are present in fluids from normal sibs of NTD individuals as well as from those with midline lesions, an inherited defect is implied. We propose that at least part of the genetic predisposition to NTD, and possibly other midline defects, could reside in an abnormality connected with vitamin B 12 production, transport or metabolism, and a mechanism is suggested.