Ron Kennedy, M.D.
Maternal myasthenia gravis: The presence of myasthenia gravis in a pregnant woman. During pregnancy in a woman with myasthenia, the anti-AChR antibodies can cross the placenta and block the function of the fetal form of AChR leading to fetal paralysis. Fetal and neonatal death is a common consequence. Babies who survive often have
arthrogryposis multiplex congenita
Maternal phenylketonuria: A mother with the genetic disease phenylketonuria (PKU) whose high blood levels of phenylalanine (phe) are dangerous to a developing fetus. High phe is a teratogen (a provoker of birth defects). It can damage a baby before birth. Women with PKU who are off the special PKU diet should restart back it, ideally prior to conception. During pregnancy they must be on the diet and have their blood phe levels carefully monitored. If the maternal PKU is not controlled, the baby (who does not have PKU) is at risk for congenital heart disease, growth retardation, microcephaly (abnormally small head), and mental retardation.
Maternal serum alpha-fetoprotein (MSAFP): A plasma protein normally produced by the fetus, in the mother's blood. MSAFP serves as the basis for some valuable tests. Alpha-fetoprotein is manufactured principally in the fetus's liver and gastrointestinal (GI) tract and the yolk sac, a structure temporarily present during embryonic development. The alpha-fetoprotein level is typically high in the fetus's blood. It decreases in the baby's blood after birth. And by one year of age, it is virtually undetectable. During pregnancy, alpha-fetoprotein normally crosses the placenta from the fetal circulation and appears in the mother's blood. The alpha-fetoprotein level in the mother's blood (the maternal serum alpha-fetoprotein) provides a screening test for several disorders including open neural tube defects (anencephaly and spina bifida) and Down syndrome (and other chromosome abnormalities). The maternal serum alpha-fetoprotein tends to be high with open neural tube defects such as anencephaly and spina bifida (meningomyelocele) and Low with Down syndrome (trisomy 21, an extra chromosome number 21). Alpha-fetoprotein production is essentially zero after a year of age. However, it increases again under the stimulus of some liver diseases. It may, for example, be produced by viral hepatitis and cirrhosis of the liver. Alpha-fetoprotein is also made by primary liver tumors (hepatomas) and by germ cell tumors (teratocarcinoma and embryonal cell carcinomas). A person's serum alpha-fetoprotein level can therefore be used to help detect these conditions and monitor cirrhosis of the liver.
Materteral: 1. Relating to a maternal aunt. 2. Figuratively, suggestive of an aunt on either side of the family. 3. In medical genetics, pertaining to an aunt. An materteral relationship is the genetic relationship between aunts and their nieces and nephews. Materteral is synonymous with materterine. From the Latin matertera meaning maternal aunt, from mater meaning mother. The masculine counterpart of avuncular (like an uncle).
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