Birth defects can also result from physical conditions affecting the health of the mother. One common maternal condition associated with birth defects is diabetes mellitus, a multifactorial disorder. Mothers with diabetes have a two-to three-fold times greater risk of having a child with birth defects than the general population if their condition is not well controlled. However, good glucose control has been shown to correlate with a decreased risk of congenital malformations. Characteristic diabetic malformations include cardiovascular, craniofacial, genitourinary, gastrointestinal, and neurological abnormalities. The risk that the child born of a mother with diabetes mellitis will also develop diabetes as an adult is 1 to 3 percent.
Another maternal condition giving rise to birth defects is maternal phenylketonuria (PKU). This is an autosomal recessive disorder in which an enzyme called phenylalanine hydroxylase is defective. This enzyme normally converts a substance in the blood called phenylalanine to another substance called tyrosine. As a result, phenylalanine levels are high, resulting in mental retardation, microencephaly, growth retardation, cardiac problems, seizures, vomiting, and hyperactivity. Other traits associated with PKU are fair hair and skin and blue eyes. PKU can be effectively managed through changes in the diet, and women who have appropriately managed their diet can have pregnancies with healthy offspring.
SEE ALSO CHROMOSOMAL ABERRATIONS; CLINICAL GENETICIST; COMPLEX TRAITS; DIABETES; DOWN SYNDROME; FRAGILE X SYNDROME; GENETIC COUNSELING; GROWTH DISORDERS; SEVERE COMBINED IMMUNE DEFICIENCY; TRIPLET REPEAT DISEASE.
Nancy S. Green
and Terri Creeden
Batshaw, Mark L. When Your Child Has a Disability: The Complete Sourcebook of Daily and Medical Care. Baltimore, MD: Paul H. Brooks Publishing, 2001.
"Leading Categories of Birth Defects." March of Dimes Perinatal Data Center, 2000.
National Organization of Rare Disorders. <http://www.rarediseases.org>.