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Genetic Testing and Pregnancy: Is it necessary?

Today, there is no reason to approach pregnancy in the dark when it comes to genetics. A genetic counselor can help expecting parents and those considering a family to understand their genetic makeup and allay concerns related to passing traits on to their children.

Typically, when a couple first learns that they are expecting a child, it’s an emotional moment filled with anticipation, imagination, and dreams. Is it a boy or girl? Will he have the gentle disposition of his mother? Will she inherit her daddy’s sparkling green eyes and golden hair? Not to put a damper on the joy, but expectant parents should also consider the possibility that their baby may inherit a genetic problem. The complex reality of genetics can cause fear and anxiety; however, with the help of experienced professionals such as genetic counselors, couples will gain an understanding of their situation and receive emotional support dealing with the decisions they may have to face.

According to the March of Dimes, a small percentage of couples will learn through prenatal testing that their baby has a birth defect. This prenatal diagnosis sometimes can improve the outlook for the baby, since advances in prenatal therapy now make it possible to treat some birth defects before delivery. In the United States, there is a two to four percent risk of a genetic defect and it is estimated that most people are carriers of five to seven recessive genetic conditions. Genetic counseling should be seriously considered among couples, both expecting and considering conception, who have questions or concerns about known family illnesses or traits.

First Steps

Normally during the first prenatal appointment with your physician, a discussion should be initiated regarding genetic traits, testing, and your and your partner’s backgrounds or worries. If certain issues and concerns arise during the discussion, your physician will then refer you to a trained genetic counselor or you can contact organizations such as the National Society of Genetic Counselors or your local community chapter of the March of Dimes for assistance.

The role of the genetic counselor is to work hand-in-hand with a couple to explore their risk factors, discuss options, and educate—not frighten them. Genetic counseling can be an extremely valuable tool for couples who fall into the following categories:

  • The mom-to-be will be age 35 or older on her due date.
  • The expectant woman, her partner, children, or any other family member has a genetic disorder, birth defect, or developmental delay.
  • An expectant woman whose ultrasound and/or blood testing reveals that her pregnancy may be at risk for certain medical complications or a variety of birth defects.
  • A woman who has had previous babies who died in infancy, or who had three or more miscarriages.
  • A couple with an “at risk” background or ethnicity.

In April, the National Institutes of Health (NIH) introduced the Genetic Testing Registry (GTR), a free, online screening tool to enable physicians and counselors to easily navigate the rapidly changing landscape of genetic testing.  The GTR incorporates the strengths of the current standardized screening tools, and expands on others, explains Dan Riconda, a genetic counselor at the Hughes Center for Fetal Diagnostics at Winnie Palmer Hospital. As a couple comes to their health care provider with concerns, either about a disease that runs in the family or a condition that they have that they are afraid of passing along to their child, the GTR will do one of two things.  First, it will enable the physician to refer the patient to a qualified genetic professional who provides the services required in the patient’s community.  Second, it will identify the lab that offers the specific testing required by the condition in question.  The GTR does not address healthcare insurance coverage for testing.  Despite the latter, Riconda feels that the GTR is, “a good thing, as it provides the public with greater disclosure and important patient information.”  Genetic tests available today have greatly increased a couple’s ability to determine the likelihood of genetic disorders in their children. The most common forms of prenatal genetic screening exams are amniocentesis, chorionic villus sampling (CVS), and expanded alpha-fetoprotein (AFP).

Making the Decision

Parents have many options when it comes to identifying genetic disorders in their unborn child, yet one of the most difficult aspects of genetic testing is not necessarily the test itself, but choosing to be tested and then deciding how to handle the results, both emotionally and physically. Some couples feel that the results of genetic testing answer concerns about family planning, while expecting couples may find that test results help their obstetrician best manage the woman’s prenatal care and delivery. Having answers to questions may increase anxiety for some expecting parents, or decrease it dramatically for others. In all cases, couples will benefit from a trained counselor’s guidance and support in this decision-making process.

Please contact the following organizations for further information on genetic counseling/testing:

March of Dimes
Central Florida Division
341 N. Maitland Avenue, Suite 115, Maitland, FL, 32751
(407) 599-5077

National Society of Genetic Counselors
401 N. Michigan Avenue, Suite 2200
Chicago, IL 60611
(312) 321-6834