As potential new parents, you have probably worried about the chances that your child could develop a birth defect, genetic disorder or other medical condition. Couples dealing with infertility issues may be even more concerned as some times fertility problems are caused by genetic disorders. Due to the fact that each person has 30,000 genes and every person has seven or eight that could be inactive or faulty, there is a chance that you and your partner may have passed faulty genes onto your child.
The Genes In Your Family
A genetic disorder is caused by a gene mutation in pregnancy that is passed down from generation to generation. Occasionally, the signs and symptoms of a genetic disorder do not appear until later in someone’s life. If you are concerned about this and would like to talk to someone knowledgeable on the subject, you only have to find a genetic counselor.
What is a Genetic Counselor?
Usually found in university hospitals or medical centers, genetic counselors have graduate degrees from a variety of fields including medical genetics, biology, genetics, nursing, psychology and social work. They are trained to work with families to provide information and discuss options related to the occurrence of possible genetic disorders or birth defects in your family. Additionally, they can perform genetic testing to evaluate your genes and risk of passing on a genetic disease.
Most people are referred to a genetic counselor through their physician. Typically, there are three areas of genetic counseling: prenatal, pediatric and adult onset.
Who Needs Genetic Counseling?
There are a number of cases where you may be a candidate for prenatal counseling:
- Age 35 or older
- Previous miscarriages or stillbirths
- trouble getting pregnant in the past
- history of genetic disorders in your families
- previous child with birth defects or congenital anomaly
- previous child with genetic disorder
- exposure to drugs, radiation, or chemicals during pregnancy
- irregular ultrasounds
- irregular blood test
- ethnicity susceptible to certain genetic diseases
Pediatric counseling concerns newborns and children who may be at risk for:
- birth defects
- congenital abnormalities (cleft lip/palate, spina bifida, heart defects)
- metabolic disorders (phenylketonuria, galactosemia)
- learning disabilities or autism
- genetic disorders, like Down Syndrome and Cystic Fibrosis
- Sensory disorders (vision, hearing)
Adult Onset Counseling
People who suspect they are developing a genetic disorder can go in for adult onset genetic counseling. Some disorders that may not develop until adulthood include:
- Spinal Muscular Atrophy
- Myotonic dystrophy
- Huntington disease
- Breast cancer
Compile Your Family Medical History
Your counselor will likely want you to provide a detailed family medical history and background to determine whether your child is at risk of developing any medical conditions. If you have an upcoming appointment for genetic counseling, you should gather all of your relative’s medical information. This includes your parents, grandparents, siblings, aunts, uncles and cousins. Your partner will also need to talk to all of his relatives.
You should collect medical records that have information on family members with birth defects, breast cancer, heart disease, hearing or vision problems, genetic disorders, mental illness, mental retardation, learning problems, kidney disease, asthma, diabetes, and high blood pressure as well as lifestyle habits like alcohol consumption and smoking.
What Can I Expect From This Visit?
If you’re trying to conceive, genetic counselors will analyze your family’s medical history to determine the likelihood of certain genetic diseases. They may order tests to find out more information and can interpret medical results that you may not understand. They may discuss the risks of certain disorders, explain inheritance patterns in genetic disorders and outline the likelihood of you passing on a defective gene to a child.
In the event that a test has confirmed the presence of a genetic disorders or medical condition in you or your partner, a genetic counselor can explain the condition and discuss further treatment with you. They can advise you on assisted reproductive technology, gene therapy options, in vitro fertilization coupled with PGD or adoption.
All Decisions Are Up to You
Since there is a lot of information presented to you at these appointments, your counselor may provide you with a written personal summary on your health information along with pamphlets on genetic disorders and conditions. All information discussed during your appointment is confidential. Your counselor can only provide the information and will not make choices for you.