The specific cause of many birth defects is unknown, but several factors associated with pregnancy and delivery can increase the risk of
birth defects. Nongenetic factors such as a variety of medications and drugs are known to cause abnormalities in newborns. (Electronic
Illustrators Group)
pregnancy, often before a woman even knows she is
pregnant. This is why strategies aimed at preventing
birth defects must focus on improving the health
of women prior to pregnancy. Screening and diag-
nostic tests, such as ultrasound, maternal serum
a-fetoprotein screening, amniocentesis, and chorion-
ic villus sampling, are used to monitor the health of
the fetus and to identify certain fetal malformations
and chromosomal disorders; they cannot, however,
be used to prevent these conditions from occurring.
Decisions about whether to use prenatal testing,
which tests are appropriate, and how to use the results
must be made by the mother in conjunction with her
physician.
Consequences of Birth Defects
An infant with a birth defect presents many chal-
lenges both for the child and the family. Children
with sensory abnormalities, such as hearing or sight
loss, have been shown to experience the greatest diffi-
culty in psychosocial adjustment, whereas children
with cardiac malformations experience maladjust-
ment to a lesser extent. There have not been many
studies addressing either the type of psychological
problems or the long-term effects experienced by
children with birth defects. A study of over 3,000 chil-
dren in Canada reported that most children with cys-
tic fibrosis (an inherited gene mutation that causes
problems with the lungs, pancreas, and other organs)
have some type of major psychiatric diagnosis, with
anxiety disorder being the most common. Long-term
research is needed, however, to assess any lasting ef-
fects of a child’s condition on his or her mental and
emotional well-being.
One component of a child’s psychosocial devel-
opment is related to social pressure. Studies have
found that individuals with spina bifida and Down
syndrome do not perceive themselves as sick. Many
of the social difficulties experienced by children with
birth defects are not caused directly by the anomaly
but by the expectations of what is normal and expect-
ed in their communities.
Studies of the families of children with birth de-
fects have focused on psychological stresses experi-
enced by mothers. Mothers of infants with very low
birthweights (which is a factor closely related to birth
defects) experience greater psychological stress than
mothers of normal weight infants. Overall, studiesBIRTH DEFECTS 57