Disease relevance of Spina Bifida Cystica

• Elevated levels of AChE were found in association with open spina bifida (5.5-20.4 u/l), anencephaly (10.2-19.5 u/l), exomphalos (2.7-15.6 u/l), intrauterine death (30.2-59.3 u/l) and Turner's syndrome (36.4 u/l) but not with closed spina bifida or rhesus isoimmunisation [1].
• In 5 fetuses (1 teratoma, 3 open spina bifida, 1 unaffected) we found faint AchE and butyrylcholinesterase bands [2].

High impact information on Spina Bifida Cystica

• Pregnancies in black women not affected by open spina bifida are already known to have higher maternal serum alpha-fetoprotein levels [3].
• The ratio of the density for the acetylcholinesterase band in the gel to that of the pseudocholinesterase band was less than or equal to 0.10 for the open abdominal wall defects and 0.27 or more for open spina bifida [4].
• In C57BL mice, one rib abnormality occurred, but no major congenital malformations; however, in the curly tail mutants, 60% of which normally have a curly tail or an open neural tube defect, there was a modest increase in the frequency of open spina bifida and exencephaly [5].

Biological context of Spina Bifida Cystica

• Alpha-fetoprotein screening for open spina bifida: effect of routine biparietal diameter measurement to estimate gestational age [6].

Analytical, diagnostic and therapeutic context of Spina Bifida Cystica

• Six cases of open spina bifida were detected through amniocentesis by elevation of alpha-fetoprotein and acetylcholinesterase levels [7].

References