Genetic Counseling

Over the last few decades, it has become increasingly common to refer some women to genetic counselors during their pregnancy. Although many people may be aware of genetic counselors, not everyone understands just what they do or even what a gene is.


When an egg and sperm join, they each bring with them 23 chromosomes to create the 46 chromosomes that make up a person. Within these chromosomes are genes that act as a blueprint for each person. Once conception has taken place, the 46 chromosomes multiply with each cell division. It is estimated that each person is made up of an estimated 30,000 genes. However, serious medical issues can result from the mutation of just a single gene.

Often, these gene mutations are passed on from generation to generation, resulting in hereditary diseases and disorders. For a child to be born with an inherited genetic disorder, like cystic fibrosis or sickle cell anemia, both parents need to be carriers of the mutated gene. Yet, some disorders, like hemophilia, only require one parent to be a carrier of the mutated gene. Other disorders, like Down syndrome, are not hereditary, but are instead caused by a spontaneous gene mutation during cell division in utero.

What Is A Genetic Counselor

Genetic counselors have specialized training and experience within the area of genetics. Additionally, they are qualified in counseling people who are dealing with highly sensitive and emotional issues. A genetic counselor will have at least a Master's degree in genetic counseling. It is a relatively new medical field with the first class having graduated just over 30 years ago in 1971.

As a counselor, their job is to inform the patient about possible birth defects or genetic disorders that may affect their child. Their training in genetics allows them to sort through all the medical technical jargon that you may not comprehend in order to help you make sense of it all. They will identify any risk factors you or your partner may have and the likelihood of a birth defect or genetic disorder occurring. They will present you with possible outcome scenarios that can help you understand and better decide for yourself what you should do. However, they will not make decisions for you.

Genetic counselors recognize that every family is different and what may be right for one couple is not necessarily the best option for another. Therefore, they look to make the patients proactive in the decisions for the final solution.

When You Should Go

Genetic counselors mainly deal with prenatal counseling. However, you do not have to wait until you're pregnant to make an appointment. If you are thinking about becoming pregnant, and especially if you recognize yourself in one of the following categories, it may be a good idea to schedule a meeting with a genetic counselor.

Couples who will need genetic counseling include:

  • Those with a known or suspected family history of birth defects or inherited disorders
  • Either parent already has a child with a birth defect or genetic disorder
  • A mother has experienced two or more miscarriages or stillbirths or has had a child die ininfancy
  • Routine prenatal screening or an amniocentesis has produced an abnormal result
  • Either parent is concerned about exposure to toxins either through their job or lifestyle(i.e. radiation, medications, or infections)
  • Maternal age is 35 years or older (risk of Down syndrome increases from one in 350 at age 35 to one in 30 at age 45)
  • There is a general concern over risk of genetic problems because of a parent's ethnic background. Certain ethnicities have a higher disposition to carrying certain genetic problems. For example, Jewish people from central or eastern Europe are more likely to be carriers of Tay Sachs disease, while African-Americans are more likely to produce a child with sickle-cell anemia.

The First Visit

Your genetic counselor will want to know as much as he can about your medical history as well as the medical background of your family. The more information that you can provide your counselor with, the better he will be able to identify inheritance patterns and assess your risk factors for certain genetic problems.

In some instances, further testing may be necessary. Your genetic counselor will arrange for this. Once your chances of having a child with a possible genetic disorder have been properly assessed, your genetic counselor will provide you with the resources you need to decide what you should do next. Some of the possible solutions for those with a very high risk include choosing to adopt a child or conceiving a child through in vitro fertilization and implanting an embryo that has been determined to be free of genetic problems through preimplantation genetic diagnosis.

Don't hesitate to ask your genetic counselor any questions you might have. He is your best resource for information. Since you may be presented with a lot of information during your appointment, ask for some brochures or even a written summary of the meeting to help you remember everything that was discussed.

Gathering Family Information

It is important to have as much information on your family's medical history as you can. In preparation for your appointment with a genetic counselor, start talking to your relatives as soon as possible. It may be easiest to gather the information in the form of a family tree.

First, begin talking with your parents and siblings about any medical problems they may have had. Then, start fanning out to grandparents, aunts, uncles and cousins. Since both you and your partner will need to do this for the maternal and paternal side, it may take some time before you have all the information you need.

Diseases and disorders that you will want to look out for include:

  • Cancer
  • Asthma
  • Diabetes
  • Heart disease
  • High blood pressure
  • Alcoholism
  • Stroke
  • Kidney disease
  • Loss of hearing or vision at a young age
  • Mental illness (i.e. depression, schizophrenia)
  • Learning problems
  • Mental retardation
  • Birth defects (i.e. spina bifida, heart defects)

In addition to recording the disease, you will want to note the age when the problem occurred as well as any relevant health information. Was a family member a heavy smoker? Was he physically active? Was he overweight? Since certain genetic problems are more dominant amongst particular ethnic groups, you should include also include where your relative came from.

Genetic counselors are a valuable resource to help you deal with possible genetic problems in your family. If you think you may need to see one, ask you health care provider for a referral. You can also locate a genetic counselor in your area through these organizations:

National Society of Genetic Counselors

Canadian Association of Genetic Counselors

Recommended Link
Are you and your partner considering genetic counseling? Share your experience with others at Pregnancy Stories. Offer your encouragement to other couples dealing with genetic complications by posting your story.

Worried about the risk of genetic problems with your baby? Visit our forum to have your questions answered by other women


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