Genetic Testing Counseling

Once you have decided to have a prenatal genetic test for your baby, genetic counseling for a pregnancy has many benefits. Genetic counseling assesses a couple’s risk of passing genetic disorders on to their children. A genetic counselor is a trained professional who can identify such risks and explain them to a family.

Types of Genetic Disorders

Genetic disorders result from abnormal changes, or mutations, in a person’s DNA. A genetic disease may be hereditary, such as cystic fibrosis, or the result of problems during fetal development, such as Down syndrome.

Most hereditary genetic diseases only manifest themselves when a baby receives abnormal genetic material from both parents. However, even when both parents carry abnormal genetic material, the child may not develop the disease, but will likely be at higher risk for developing the disease than the general population (or pass on mutated genes to their own children).

In addition, some ethnic groups have a higher-than-normal risk of developing certain genetic disorders. For instance, sickle cell anemia is more common in children of African descent.

After genetic testing, genetic counseling can tell prospective parents if they are carriers for certain genetic diseases. It can also identify diseases like Huntington’s disease, which develop even when only one parent carries the genetic material.

Genetic Counseling in Action

Before meeting with a genetic counselor, you should gather as much personal and family history as possible. At your meeting, you may want to provide information about:

  • current and past medical histories
  • early deaths among relatives
  • genetic tests
  • personal medical tests
  • pregnancy ultrasounds
  • previous pregnancy reports
  • relatives who had multiple miscarriages
  • relatives with inherited genetic disorders
  • unexplained family deaths.

A genetic counselor will generally review your information and then meets with you. He or she may recommend further tests, identify areas of risk and provide you with options if your child is at risk of inheriting a genetic disorder.

Candidates for Genetic Counseling

While the benefits of genetic counseling are numerous, not every pregnancy requires the use of genetic counseling. While 3 percent of all babies have birth defects, the most common defects are either harmless or easily correctable.

The benefits of genetic counseling are most important when:

  • a history of multiple miscarriages exists
  • a parent or close relative was born with a birth defect
  • a parent or close relative has a hereditary disease
  • amniotic fluid testing reveals abnormal results
  • children from previous pregnancies have birth defects or hereditary disease
  • parents are members of ethnic groups that have high rates of inherited disorders
  • prenatal testing reveals problems
  • previous babies died in infancy
  • the mother is older than 35 (increasing the risk for Down syndrome).

Genetic Counseling and Family Decisions

Genetic counseling and family decisions about pregnancy are often linked. A genetic counselor provides couples with the facts about the pregnancy and the options that are available.

A genetic counselor does not usually recommend a course of action to couples if genetic mutations are found. That decision is for the family alone to make. Family decisions vary depending on whether their genetic counseling occurred before or after conception of the child.

Genetic counseling after conception can reveal that the fetus already has a serious medical condition. Under these circumstances, parents must decide whether to proceed with the pregnancy and deal with the challenges of caring for a child with a serious health condition, or to end the pregnancy. In some cases, fetal surgery may alleviate birth defects, but this is only an option for a few disorders.

If genetic counseling reveals a high risk of serious disorders before conception, eggs can be fertilized in a laboratory and tested for defects, then implanted in the uterus. Other options include adoption or using donated sperm or eggs.


Adams, A. (December 2003). What is genetic counseling? Retrieved December 6, 2008, from the GeneticHealth Web site:

American Pregnancy Association. (October 2008). Genetic counseling. Retrieved December 6, 2008, from the American Pregnancy Association Web site:

Nemours Foundation. (April 2007). Genetic counseling. Retrieved December 6, 2008, from the KidsHealth Web site: