A number of questions cross the minds of couples who are planning to conceive. Are we ready for the responsibility? Are we fit enough to conceive? Will we have a healthy baby?
Most importantly, are there chances of a genetic disorder in the family being passed on to the child?
“Much like they transmit their hereditary traits to their child through genes, parents can also transmit a number of genetic abnormalities to the children that can cause diseases such as cystic fibrosis, sickle cell anemia, and even thalassemia,” explains Zoya Brar, founder and managing director, CORE Diagnostics, Gurgaon.
With the availability of a new generation of genetic testing mechanisms, it is now possible for you to find out the risks, if any, of a serious genetic abnormality being transmitted to your child.
And yes, it is possible to know that even before you have conceived.
What if the odds of you having a child with a genetic disorder are high?
"If you are able to ascertain this before conceiving, you may then, with the help of a genetic counselor, go on to decide if you want to consider alternative means of having a child such as sperm or egg donation or even consider adopting a healthy child," says Brar.
What is pre-conception genetic testing or screening?
“Genetic testing or carrier screening is a diagnostic process through which the presence of a genetic abnormality is tested in the parents. This is done to ascertain the chances of their baby inheriting certain genetically caused diseases, known as recessive disorders. Genetic testing is conducted through a blood test on both parents. In case both parents are found to have a faulty gene, the odds of the baby receiving it are high,” says Brar.
She adds that if, however, only one parent is found to possess the abnormal gene, the risk drops dramatically. “
“A qualified genetic counselor can guide you through your decision process, based on the test results. In addition to single gene recessive disorders, newer screens shall also carry out risk assessment for complex disease such as diabetes, or schizophrenia,” says Brar.
Should you undergo genetic testing before trying to conceive?
For couples looking to start a family, it is advisable to meet a genetic testing counselor, who will examine your personal and family’s medical history in detail, and take into account a number of factors such as your age, and previous failed pregnancies (if any).
The counselor will then advise you on the need (or not) of undergoing genetic testing.
Continue reading to know the process of genetic testing.
Process of genetic testing
This is how the process is carried out.
- A certified counselor would first review your family and medical history, and create a pedigree chart.
- He/she would give you information about your genetic conditions, how it may be transmitted to your family, and then evaluate if your family members and you were at risk for disease.
- Once the results have been obtained, a geneticist would assess your state of mind, and guide you in making informed decisions vis-a-vis your treatment or lifestyle choices.
- He/she would then help you understand the diagnosis and explore further testing options.
- The counselor would also help you to find referrals for medical specialists, and support groups for emotional sustenance.
Brar says, “Today, most couples are advised to undergo genetic testing before conceiving as this minimises the risk of serious conditions afflicting the child. Unfortunately in our country, the concept of pre-conception medical counseling is yet to become a norm and most couples rush to a doctor only after discovering a pregnancy.”
People who should most certainly go for genetic testing
- Couples having a family history of a genetic condition or disorder
- Couples who have suffered from repeated miscarriages or failed pregnancies
- Couples who have had a previous child with birth defects
- Women who are past 35 years of age when planning a pregnancy
“While a test cannot give you a foolproof answer on whether your child will have a genetic disorder or not, it does indicate the risk of the baby acquiring a serious genetically caused disease, thus helping you make informed decisions about your life,” says Brar.
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