Individuals of the Ashkenazi Jewish community who received the result of their genetic test and wish to learn more about its meaning.
IMPORTANT, PLEASE READ!
If you are pregnant or have any questions concerning your result and wish to speak to a genetic counsellor, please call the Department of Medical Genetics at 514-412-4427.
WHAT ARE THE POSSIBLE RESULTS FOR ME?
A positive result for a condition means that you are a carrier of the condition. It also means that your relatives can be carriers as well, thus you are encouraged to share this information with your family. If your partner is of AJ ancestry, s/he is eligible to take the screening test and find out if s/he is a carrier of a Jewish genetic disorder. If you are a carrier of Tay-Sachs disease and your partner is not of AJ ancestry, s/he is eligible to be tested as this condition is present in other populations. Thus, please call the Department of Medical Genetics at 514-412-4427 and mention that you are a carrier of a Jewish genetic disorder.
A negative result for a condition means that the chance that you are a carrier of this condition is greatly reduced. However, a small chance remains that you are a carrier as the genetic analysis detects only the most common mutations found in the AJ population and not 100% of them. As you are likely not a carrier, it is not necessary that your partner take the screening test to find out if s/he is a carrier. As you have had a negative result, your chance of having a child with the condition is greatly reduced. Nevertheless, if your partner is of AJ ancestry, s/he is still eligible to take the screening test to know if s/he is a carrier of a Jewish genetic disorder.
Select your result and your partner’s result from the list below
Please call the Department of Medical Genetics to schedule an appointment for a genetic counselling session at 514-412-4427 if not already booked.
Tay-Sachs disease (TSD)
TSD is caused by the absence of a molecule responsible for the breakdown of a specific fatty substance. As this substance is not broken down, it accumulates in the body and is toxic for the central nervous system (brain and spinal cord).
TSD is a severe condition that worsens with time. At birth, babies with TSD are normal. Symptoms appear between ages 3 to 6 months with muscle weakness. From age 6 to 12 months, as the weakness become more severe, infants start to lose motor skills such as smiling, rolling over or sitting. Infants rapidly become less responsive and develop swallowing and breathing problems. They experience gradual loss of vision leading to blindness and seizures. After 2 years of age, infants stop responding to their surroundings and they usually pass away before age 4.
There is no cure for TSD. Care is offered to improve the infants’ quality of life and includes controlling for adequate nutrition and hydration, managing infections, protecting the airways and using medication to control seizures.
Genetics
As you are both carriers of the same condition, your probabilities are 1/4 of having a child who is affected, 1/2 of having a child who is a carrier and 1/4 of having a child who is not a carrier.
Pregnancy options
Two options are available to test your pregnancy. One is performed in the first trimester of pregnancy and the other is performed from the second trimester. Both procedures allow one to know whether the baby is affected by the condition, but both are associated with an increased risk of pregnancy loss (miscarriage).
Another option allows one to know if the baby will be affected with the condition before getting pregnant. The procedure is done with the help of assisted reproductive technologies. Eggs and sperm are collected and fertilized in the laboratory. After fertilization, embryos are tested for the specific condition and only unaffected embryos are implanted in the mother’s womb.
Choosing a diagnostic procedure as a pregnancy option is a couple`s personal choice. Other non-diagnostic options are also available including 1) choosing not to test the pregnancy; 2) using an egg and/or a sperm donor, who is someone who is not a carrier of the condition; or 3) adopting a child.
Please call the Department of Medical Genetics to schedule an appointment for a genetic counselling session at 514-412-4427 if not already booked.
Canavan disease (CD)
CD is caused by the absence of a molecule responsible for the breakdown of a specific substance. As this substance is not broken down, it accumulates in the body and is toxic for the central nervous system (brain and spinal cord). This causes changes in the texture of the brain matter.
CD is a severe condition that worsens with time. At birth, babies with CD are normal. Symptoms vary and appear between ages 3 to 5 months with muscle weakness and when, due to a bigger than average head size, head control is problematic. As the weakness becomes more severe and muscles become stiffer, infants fail to achieve new motor and language skills such as rolling, sitting, standing, walking or talking. Infants learn to interact socially as they can laugh, smile and reach for objects. As children age, they develop sleeping difficulties as well as swallowing problems and seizures. They often experience gradual loss of vision and hearing leading to blindness and deafness. Some children die in childhood whereas others live into their teens.
There is no cure for CD. Care is offered to improve the children’s quality of life and includes controlling for adequate nutrition and hydration, managing infections, protecting the airways and using medication to control seizures. Physical therapy and special education programs can help with muscle weakness.
Genetics
As you are both carriers of the same condition, your probabilities are 1/4 of having a child who is affected, 1/2 of having a child who is a carrier and 1/4 of having a child who is not a carrier.
Pregnancy options
Two options are available to test your pregnancy. One is performed in the first trimester of pregnancy and the other is performed from the second trimester. Both procedures allow one to know whether the baby is affected by the condition, but both are associated with an increased risk of pregnancy loss (miscarriage).
Another option allows one to know if the baby will be affected with the condition before getting pregnant. The procedure is done with the help of assisted reproductive technologies. Eggs and sperm are collected and fertilized in the laboratory. After fertilization, embryos are tested for the specific condition and only unaffected embryos are implanted in the mother’s womb.
Choosing a diagnostic procedure as a pregnancy option is a couple`s personal choice. Other non-diagnostic options are also available including 1) choosing not to test the pregnancy; 2) using an egg and/or a sperm donor, who is someone who is not a carrier of the condition; or 3) adopting a child.
Please call the Department of Medical Genetics to schedule an appointment for a genetic counselling session at 514-412-4427 if not already booked.
Familial dysautonomia (FD)
FD is caused by the absence of a molecule responsible for the development and maintenance of specific nerves. It affects the sensory system and the involuntary nervous system, which regulates the muscles in the body that we can’t control including the heartbeat, respiration rate, digestion, urination, etc.
FD is present from birth. Infants can have muscle weakness and most have developmental delays. Possible symptoms are bowel problems, vomiting, frequent pneumonia, abnormal blood pressure or heartbeat as well as insensitivity to pain and temperature. Some individuals will have crises that cause vomiting, unstable blood pressure, excessive sweating and swallowing difficulties. As individuals age, their leg muscles become stiffer and they can develop balance problems. Life expectancy is reduced and half of individuals will reach age 30.
There is no cure for FD. Care is offered to improve the individuals’ quality of life and includes controlling for adequate nutrition and hydration, managing infections, monitoring heartbeat and being followed in physiotherapy.
Genetics
As you are both carriers of the same condition, your probabilities are 1/4 of having a child who is affected, 1/2 of having a child who is a carrier and 1/4 of having a child who is not a carrier.
Pregnancy options
Two options are available to test your pregnancy. One is performed in the first trimester of pregnancy and the other is performed from the second trimester. Both procedures allow one to know whether the baby is affected by the condition, but both are associated with an increased risk of pregnancy loss (miscarriage).
Another option allows one to know if the baby will be affected with the condition before getting pregnant. The procedure is done with the help of assisted reproductive technologies. Eggs and sperm are collected and fertilized in the laboratory. After fertilization, embryos are tested for the specific condition and only unaffected embryos are implanted in the mother’s womb.
Choosing a diagnostic procedure as a pregnancy option is a couple`s personal choice. Other non-diagnostic options are also available including 1) choosing not to test the pregnancy; 2) using an egg and/or a sperm donor, who is someone who is not a carrier of the condition; or 3) adopting a child.
Since you are carriers (positive result) of different conditions, your chance of having an affected child for each genetic condition is very low. Being a carrier for one condition is independent from being a carrier for another condition as the mutations are in different genes. Thus, the probabilities are similar as if one of you has a positive result and the other one has a negative result for the same condition. As you are carriers, your children can also be carriers of one or both conditions. This will have implications for them when they reach adulthood and wish to start a family themselves.
If you wish to get more information about you test results, please contact the Department of Medical Genetics at 514-412-4427.
Since one of you is a carrier (positive result) and the other one has a negative result for the same condition, your chance of having a child with this genetic condition is very low. However, this chance is not null because you were screened only for the most common mutations in the Ashkenazi Jewish community. The remaining risk will vary according to the ethnicity of the partner who has the negative result. As one of you is a carrier, your children can also be carriers of the condition. This will have implications for them when they reach adulthood and wish to start a family themselves.
If you wish to get more information about your test results, please contact the Department of Medical Genetics at 514-412-4427.
Since one of you is a carrier (positive result) and the other one has not been tested for the same condition, your chance of having a child with the genetic condition is low. The remaining risk will vary according to the ethnicity of the partner who was not tested. If your partner is of Ashkenazi Jewish ancestry, s/he is eligible to take the screening test and find out if s/he is a carrier or a Jewish genetic condition. If you are a carrier of Tay-Sachs disease and your partner is not of Ashkenazi Jewish ancestry, s/he is eligible to be tested as this condition is present in other populations. As one of you is a carrier, your children can also be carriers of the condition. This will have implications for them when they reach adulthood and wish to start a family themselves.
If you wish to get more information about your test results, please contact the Department of Medical Genetics at 514-412-4417.
Since you both have a negative result for the same condition, your chance of having a child with this genetic condition is extremely low.
If you wish to get more information about your test results, please contact the Department of Medical Genetics at 514-412-4427.