ASSESSMENT OF GENETIC

DISORDERS
By leynard john romero
FAMILY HISTORY ASSESSMENT

To determine whether a couple has an increased risk of having a baby with

a genetic disorder, doctors ask the couple about the following:

 Disorders that family members have had

 The cause of death in family members

 The health of all living first-degree relatives (parents, siblings, and

children) and second-degree relatives (aunts, uncles, and grandparents)
 Miscarriages, stillborn babies, or babies who have died soon after birth

 Babies with birth defects

 Intermarriages among relatives (which increases the risk of having the

same abnormal gene)
 Ethnic background (certain groups are at higher risk of certain disorders)
Information about three generations is usually needed. If the
family history is complicated, information about more distant
relatives may be needed. Sometimes doctors review the
medical records of relatives who may have had a genetic
disorder.
Carrier Screening
Carriers are people who have an abnormal gene for a disorder but
who do not have any symptoms or visible evidence of the disorder.
People can be carriers if the abnormal gene is recessive—that is, if
two copies of the gene are needed to develop a disorder
Only women can carry an X-linked (sex-linked) recessive gene.
Women have two X chromosomes. Thus, on the other X
chromosome, the corresponding gene may be normal and protect
women from developing the disorder. (Because men have only one
X chromosome, all men who have an abnormal X-linked recessive
gene have the resulting disorder, which is often fatal early in life.)
Carrier screening involves testing people who do not
have symptoms but are at higher risk for carrying a
recessive gene for a particular disorder. Risk is higher
when one or both partners have a family history of
certain disorders or have characteristics (such as
ethnic background or racial or geographic group) that
increase the risk of having certain disorders. However,
screening is done only if the following criteria are also
met:
 The disorder is very debilitating or lethal.
 A reliable screening test is available.

 The fetus can be treated, or reproductive options (such

as abortion or elective sterilization) are available and
acceptable to the parents.
In the United States, examples of disorders that meet these
criteria include sickle cell anemia, the thalassemias, Tay-Sachs
disease, and cystic fibrosis.
Carrier screening usually consists of analyzing the DNA from a
blood sample. But sometimes a sample of cells from the inside
of the cheek is analyzed. People provide the sample by
swishing a special fluid in their mouth, then spitting it into a
specimen container, or by rubbing a cotton swab inside their
cheek.
If carrier screening indicates that both partners have a recessive
gene for the same disorder, they may decide to have prenatal
diagnostic testing. That is, the fetus may be tested for the
disorder before birth. If the fetus has the disorder, treatment of
the fetus may be possible, or termination of the pregnancy may
be considered.