Will Genetic Screening Help Your Baby?
For every parent who has suffered the anxiety of wondering if
their unborn child would be healthy, there are comparatively few
who come face to face with the agonizing discovery that their
unborn or newborn child will struggle or die because of a
genetic disorder.
What is a genetic disorder and what part does genetic screening
play in helping families to deal with the risk or reality in
their children?
Recessive genetic disorders are when both parents carry a
diseased gene but do not suffer from the disease themselves.
They are called 'carriers'. Their children must inherit the
diseased gene from BOTH parents to develop the disorder.
If the child inherits only one gene they will also become
carriers, but not suffer from the disease. It is also possible
that they will not inherit the gene at all. In each case, the
likelihood of having a child develop the disorder goes up with
each pregnancy. It is simply a matter of chance.
Genetic Screening of Parents
Screening a couple BEFORE pregnancy can identify the risks for
potential recessive disease where both parents carry the same
recessive gene. Once a gene (such as Tay-Sachs) is found in both
individuals, the couple can be informed on the risks of passing
the gene on and the likelihood of their children developing the
disorder.
Having this knowledge not only prepares couples for the possible
outcome in a pregnancy but also permits them to decide whether
getting pregnant is worth the risk.
Genetic Screening During Pregnancy
Genetic screening during pregnancy is subject to the most
controversy. While the testing is not done entirely for genetic
disorders (spina bifida and Downs syndrome being two that are
NOT inherited gene disorders) the facts still remain that
screening during pregnancy has its pros and cons.
While genetic screening may prepare a family for the risk of
disease and provide time for genetic counseling for the parents,
usually there is nothing that can be done for the baby during
the pregnancy.
The fact that most tests cannot guarantee the health of the
child and that false positive tests may lead to undue anxiety
and possibly to the termination of a healthy pregnancy are also
dangers that must be acknowledged. Some tests, such as the
amniocentesis, also carry a risk themselves (although a small
one). Parents should discuss this with their health care
provider.
More recently it is the possibility that genetic testing may
lead to more advanced measures of choosing the 'right' baby that
has caused a stir. Each parent must weigh the risks and benefits
of these tests.
Genetic Screening of Newborns
Genetic screening of newborns has become standard practice in
countries like the US and Canada.
By taking a small sample of blood from a pin prick in the
newborn's heel, the sample is then analyzed for genetic
disorders. Some of these disorders, when caught early on can be
treated (such as sickle cell anemia) and some even eliminated.
This precaution has saved many children a lifetime of suffering
from a debilitating disease.
The advancement of science continues to amaze and alarm us with
what is possible. While many individuals will benefit from the
assistance of screening the controversy regarding how far
science should intrude is sure to continue.