Glossary
Congenital absence of the calvaria or cranial vault, with
cerebral hemispheres completely missing or reduced to small masses attached to the base of
the skull.
Source: Dorland’s Illustrated Medical Dictionary 28th Edition
The degree to which a drug or other
substance becomes available to the target tissue after administration. The
synthetic form of folic acid has higher bioavailability than the natural form (food
source).
| Source | Rate of Bioavailability |
| Multivitamin or supplement containing folic acid | 100% |
| Foods Enriched with folic acid | 85% |
| Foods naturally containing folate | 50% |
Source: Dorland’s Illustrated Medical Dictionary 28th Edition
A birth defect is an abnormality of structure, function or
body metabolism (inborn error of body chemistry) present at birth that results in physical
or mental disability, or is fatal.
Source: March of Dimes
A vertical cleft or clefts in the upper lip. This congenital condition, resulting from the faulty fusion of the median nasal process and the lateral maxillary processes, is usually unilateral and on the left side, but may be bilateral. It may involve either the lip or the upper jaw, or both, and often accompanies cleft palate. Nongenetic factors may also be responsible for causing this condition.
Source: Taber's Cyclopedic Medical Dictionary
A congenital fissure in the roof of the mouth forming a communicating passageway between mouth and nasal cavities.
Source: Taber's Cyclopedic Medical Dictionary
Double outlet
right ventricle
In Double
outlet right ventricle (DORV), the two great arteries (aorta and pulmonary artery) both
originate from the right ventricle and blood from the left ventricle passes across a
ventricular septal defect (VSD) into the right ventricle to reach the great arteries. The
lung circulation is often exposed to very high pressure and increased blood flow (as with
a large VSD).
Enrichment of foods is the process of adding vitamins and minerals to foods. This is done to compensate for the loss of nutrients during processing. For example, breads and cereals are enriched with folic acid.
Over 50 breakfast cereals and breads are enriched with 180
mcg of folic acid per kilogram. Refined grain products such as bread, grits, white
rice, crackers, and pasta are, by law, fortified with folic acid. Check the label on
the grain product for the Percent Daily Value in one serving.
The anionic form of
folic acid.
The name
“folic acid” comes from the Latin “folium” which means
“leaf.” The best sources of folate
include fresh, dark green, leafy vegetables and beans such as
Most meats, milk,
eggs and fruits (except for oranges) do not have much folic acid content.[73] This
table shows
the amounts of folate in some of these foods.
Keep in mind, foods high in folate are not considered the best primary source. As you may recall, food folate has a lower bioavailability than the folic acid in a multivitamin, supplement, or enriched food. Also, it would be difficult to eat enough of these foods everyday to meet the average minimum daily folic acid requirements.
Folic acid
Folic acid, a water-soluble B vitamin, is the most oxidized form of folate. It is found in vitamins and enriched foods. Folic acid plays an important role in the prevention of neural tube defects (NTDs).
Source: Tabers
Deficiencies of folate
result in impaired biosynthesis of DNA and RNA, thus reducing cell division, which is most
apparent in cells with rapid multiplication rates, such as red blood cells, leukocytes and
epithelial cells of the stomach, intestine, vagina, and uterine cervix.
Common clinical signs of folic acid deficiency include fatigue, dyspnea, sore tongue, diarrhea, irritability, forgetfulness, anorexia, glossitis, and weight loss.
Source: Food, Nutrition and Diet Therapy, Mahan
The increased accumulation of cerebrospinal fluid within the ventricles of the brain, resulting from interference with normal circulation and with absorption or blockage of the foramina of Magendie and Luschka. This may be caused by developmental anomalies, infection, injury, or brain tumors. In severe cases in children, the head is usually globular or pyramidal in shape. After the skull has formed in older individuals, there are headache, vomiting, choked disks, atrophy of the optic nerve, and mental disturbances.
In untreated cases of congenital hydrocephalus, the outcome is fatal in about half of the patients. The prognosis for an uncomplicated course is excellent when hydrocephalus is promptly treated by use of a surgically instituted shunt.
Source: Taber's Cyclopedic Medical Dictionary
Insulin dependent diabetes: (Type I)
In type 1 diabetes, sometimes referred to as insulin-dependent or juvenile-onset diabetes, the cells in the pancreas that produce insulin have been destroyed, so inadequate amounts of insulin are produced. Without insulin to move glucose into the cells, the body's blood sugar level becomes abnormally high.
Women with poorly controlled diabetes are several times more likely than women without diabetes to have a baby with a serious birth defect.
Source: WebMD and March of Dimes
The MSAFP is a simple blood test that identifies pregnancies
at higher-than-average risk of certain serious birth defects, such as spina bifida and
down syndrome.
Source: March of Dimes
Megaloblastic anemia is a blood disorder characterized by red blood cells that are larger than normal, low white blood cell (WBC) count, and low platelet count. Symptoms may include inflammation of the mouth and tongue. Ninety-five percent of the cases of megaloblastic anemia are attributable to vitamin B12 or folic acid deficiency.[35]
Folic acid deficiency is usually first to appear, as compared to vitamin B12 deficiency. Normal body folate stores can deplete within 2 to 4 months in an individual consuming a folate deficient diet. Malnutrition, alcohol abuse, a history of sprue, or severe psoriasis may indicate a folic acid deficiency.
Folic acid may be part of the treatment of megaloblastic anemia. This will result in the production of normal red blood cells; however, physicians should proceed with care because this treatment approach may mask vitamin B12 deficiency in persons who may also be vitamin B12 deficient. This can ultimately lead to irreversible neuropsychiatric damage.[113] It is imperative that physicians accurately determine the cause of the anemia before prescribing treatment. Keep in mind that folic acid supplementation does not cause vitamin B12 deficiency.
A folic acid antagonist that acts by inhibiting the synthesis
of DNA, RNA, thymidylate, and protein.
Source: WebMD
Multivitamins are probably the simplest and easiest way to
get basic recommended amounts of folic acid. Check the label to be sure that the
multivitamin contains 400 micrograms of folic acid – not all brands of vitamins
contain the same amount of folic acid. Multivitamins should never be used to obtain
a high dosage of folic acid (more than 400 mcg), unless they are in the form of prenatal
multivitamins, which are available by prescription.
Myelomeningocele
Hernial protrusion of the spinal cord and its meninges
through a defect in the vertebral canal (spinal bifida). Also called meningomyelocele.
Source: Dorland’s Illustrated Medical Dictionary 28th Edition
Neural tube defect
A congenital defect in closure of the bony encasement of the spinal cord or of the skull.
Source: Dorland’s Illustrated Medical Dictionary 28th Edition
An increase in body weight beyond the limitation of skeletal and physical requirement, as the result of an excessive accumulation of fat in the body.
Source: Dorland’s Illustrated Medical
Dictionary 28th Edition
Around or close to the time of conception.
Percent daily value (% Daily Value or % DV)
The Percent Daily Value shows how the amount of a nutrient in
a serving of food fits into a 2,000 calorie reference diet. Consumers can use % Daily
Value to compare food products and determine what a serving of food contains relative to a
2,000 calorie reference diet. Consumers can add the % Daily Value for an individual
nutrient, such as fat, in all the foods eaten in one day to get an idea of how the day's
diet fits within nutrition recommendations for fat.
Source:http://www.safefood.org/nut/nut_ref_terms.html
Pernicious anemia
A chronic, macrocytic anemia marked by achlorhydria. It occurs most often in 40- to 80-year-old northern Europeans of fair skin, but has been reported in other races and ethnic groups. It is rare in African Americans and Asians.
Pernicious anemia is thought to be an autoimmune disease. The parietal cells of the stomach lining fail to secrete enough intrinsic factor to ensure intestinal absorption of vitamin B12, the extrinsic factor. This is due to atrophy of the glandular mucosa of the fundus of the stomach and is associated with absence of hydrochloric acid. Treatment is usually an intramuscular injection of vitamin B12.
Symptoms include:
The Recommended Dietary Allowance (RDA) is the average daily
dietary intake level that is sufficient to meet the nutrient requirement of nearly all (97
to 98%) healthy individuals in a particular life stage (life stage considers age and, when
applicable, pregnancy or lactation) and gender group.
Source: Institute of Medicine publication, Dietary Reference Intakes for Thiamin, Riboflavin, Niacin, Vitamin B6, B12, Pantothenic Acid, Biotin, and Choline
A comparison of the risk of a health problem in two groups.
Source: CDC's Epidemiology Glossary, http://www.cdc.gov/excite/glossary.htm
Epilepsy is a group of disorders characterized by
unprovoked, recurrent seizures -- that is, sudden, transient disturbances of electrical
activity in the brain -- that disrupt normal neurological functioning. Epilepsy drugs may
cause birth defects.
Women with Seizure Disorders
According to the American Academy of Neurology (AAN), over 90% of Women with Epilepsy (WWE) can expect good pregnancy outcomes.
A minority of WWE will experience a worsening of seizure control during pregnancy.
A coordinated approach to the care of WWE, with contributions from a primary care provider, obstetrician, geneticist, and neurologist, is ideal. Interdisciplinary communication for counseling and management is crucial. The AAN notes that there is strong evidence that WWE of reproductive age should begin folic acid supplementation with at least 400 mcg/day and continue through pregnancy.
The AAN
recommends that pregnant women should NOT switch to an alternate anti-epileptic drug for
the sole purpose of reducing the risk of birth defects.
A developmental anomaly characterized by
defective closure of the bony encasement of the spinal cord, through which the cord and
meninges may
Dorland’s Illustrated Medical Dictionary 28th Edition
Folic acid supplements are pills which contain only folic
acid. While some supplements contain 400 mcg per dose, high dosage folic acid supplements
are available by prescription for women with a history of a prior pregnancy resulting in
an NTD. Women at risk for an NTD-affected pregnancy should consult with a physician
or primary care provider to determine the best way to obtain the dosage
needed. Women with other risk factors should be informed of the advantages and
disadvantages of taking folic acid supplements.
Tolerable Upper Intake Level (UL)
The tolerable upper intake level is the maximum level of daily nutrient intake that is unlikely to impose risks of adverse health effects to almost all of the individuals in the general population.
The Tolerable Upper Intake Level (UL) of folic acid for most adults is 1,000 micrograms (1 mg). This amount would only be achievable through the misuse of multivitamins or supplements. In addition, because folic acid is a water-soluble vitamin, it is not stored in the body like fat-soluble vitamins.
No adverse effects have ever been observed from folate consumption
via foods, folic acid enriched foods, or supplements used at the appropriate RDA.
Source: Krause
A
congenital defect of the heart consisting of 4 abnormalities that results in
insufficiently oxygenated blood pumped to the body.
Source:
Transposition of the great arteries/vessels
A congenital cardiovascular malformation in
which the aorta arises entirely from the right ventricle and the pulmonary artery from the
left ventricle, so that the venous return from the peripheral circulation is recirculated
by the right ventricle via the aorta to the systemic circulation without being
oxygenated in the lungs. Life then depends on a crossflow of blood between
blood in the right heart and that in the left heart, as through a ventricular septal
defect or a patent duct arteriosus.
Source:
Truncus
arteriosus
An arterial trunk, especially the artery connected with the embryonic heart, which gives off the aortic arches and develops into aortic and pulmonary arteries.
Truncus arteriosus persistent
A congenital anomaly, characterized by a single arterial trunk arising from the
heart, receiving blood from the heart, receiving blood from both ventricles and
supplying blood to the coronary, pulmonary, and systemic circulations; sometimes
classified according to the arrangement of the arteries supplying the lungs.
Source:
Vitamin
B12
(cyanocobalamin).
This
vitamin contains cobalt and is needed for the efficient production of blood cells and for the
health of the nervous system. Only small amounts of B12 are required by the body. The
activity of this vitamin is associated with that of another B vitamin, folic acid.
Inability to absorb vitamin B12 occurs in "pernicious
anemia," in which a substance normally
secreted by the stomach, called intrinsic factor, is missing. Intrinsic factor is needed
to absorb vitamin B12 in the small intestine. Injections of
vitamin B12 can control pernicious anemia.
Source: WebMD
Water-soluble vitamins
Able to be dissolved in water, or polar solvents. Surplus water-soluble vitamins are excreted in the urine and thus are most likely not harmful to the body. Water soluble vitamins are excreted in the urine either intact or as water-soluble metabolites as in the case of folate and Vitamin B12. Example
Mahan LK, Escott-Stump S. Krause's Food, Nutrition, & Diet Therapy. W.B. Saunders Company. Philadelphia: 2000. pp. 69-70.