Genetics is an important field of medicine that many of us are unaware of. Genetic counselling is often advised by gynaecologists or radiologists when the pregnant lady or her partner has any genetic defects. Also when an abnormality is detected during scanning or in the prenatal screening blood test. In this scenario, there might be a chance that the unborn baby might also have inherited this genetic anomaly.
If you or your family members have a history or symptom of a genetic condition, your doctor may recommend genetic testing. Through genetic testing, one can identify the underlying genetic condition and whether it can pass down to the children.
What happens in genetic counselling?
During genetic counselling, a healthcare professional, genetic counsellor, or doctor counsel you and your partner and makes you understand the genetic risk factors and the abnormality in your gene structure. Family history of medical illness, miscarriages, stillborn babies, and unexplained deaths are some of the factors your doctor might check with you during the counselling session.
Various genetic tests and clinical diagnoses are performed to further analyse the medical condition and confirm the initial report and provide the right guidance thereafter. The parents’ blood is checked for any genetic mutation, as the child might have inherited the genetic disease from either the father’s gene or the mother’s gene or both. If both parents have normal genes, then the child might having mutation of genes for the first time i.e, (denovo).
What are the tests to identify genetic anomaly?
During the pregnancy period, the baby’s well-being is checked for with the help of prenatal screening tests and ultrasound scans. Upon this screening, one can find if the baby is at the risk and can have problems associated with chromosomes at an early stage.
Amniocentesis and Chorionic Villus Sampling (CVS) are the two prenatal diagnostic procedures usually suggested by doctors to further diagnose and identify if the baby has any genetic/ chromosomal anomaly like Down’s Syndrome.
In Amniocentesis, a small amount of the amniotic fluid is aspirated from the mom’s womb to check for genetic abnormalities in the baby. Where in CVS, a sample of chorionic villi is extracted from the placenta to check for genetic problems in the baby.
How does Genetic Counselling help me?
Finding a genetic variation does not mean that the person will have a genetic illness as the case differs from person to person. A genetic illness may affect mildly in one person but in another person, it may be a severe disease.
The right genetic counselling can provide parents and their families to adjust and be prepared for life and plan ahead for the future, especially in terms of fertility.
Genetic counselling helps you gather more information about your genetic abnormality. Getting proper guidance from a knowledgeable and experienced professional can help you plan your future ahead with the baby. The support from family is the most crucial, if the counsellor can convince and educate the whole family members psychologically and emotionally about a genetically abnormal baby then that is the biggest contribution.
Ambady Scan CentreThrissur helps provide accurate and detailed information about genetic anomalies through their most advanced and latest ultrasound scanning machines and prenatal tests. With an experience of over 25 years, we provide counselling for parents who are at risk of genetic disorders. Dr Ambady Ramakrishnan is a consultant radiologist specializing in fetal medicine with more than 35 years of experience in the field of radiology. We also have Dr Shyama Devadasan who is a well-trained Fetal medicine consultant and has experience in genetics.