Pre Conception Genetic Counseling
DNA – Blueprint for Physical and Biological Characteristic of Human
The secret of a life lies in its DNA. DNA is the basic molecule for the heritable characters in known as GENE’s. Gene’s are grouped together in specific patterns within a person's chromosomes, forming the unique "blueprint" for every physical and biological characteristic of that person. Current science suggests that every human has about 25,000 genes per cell. An error in just one gene (and in some instances, even the alteration of a single piece of DNA) can sometimes be the cause for a serious medical condition. A baby looking healthy might harbour one or more such small errors that would lead a medical condition sooner or later. An unborn baby and his family can be protected from the future hardships simply by making the right choices. Such choices can be determined through various screening tests available.
Genetic Testing and Diagnosis with PGD
A newly pregnant couple or a couple trying to have a baby is often amazed at the number and variety of screening tests done to assess the health of the mom and the baby, in order to predict any potential health risks. The health care provider sometimes would suggest the couple for a genetic testing. These tests do also fall under PGD (Preimplantation Genetic Diagnosis) to identify the anomalies if any in the couple itself or in the embryos or in the unborn child and also help to predict the likelihood of passing certain genetic diseases to the baby. These tests also help to predict the chance that a younger sibling might be affected from the same disease as its elder brother/sister.
Genetic tests are done by analyzing small samples of blood or body tissues. In certain cases a small cell from the embryo is taken. They determine whether you, your partner, or your baby carry genes for certain inherited disorders.
Genetic Counseling with Embryo PGD Testing
There are various path breaking technology available like NIPT (Non invasive prenatal screening) along with PGS (Preimplantation Genetic Screening), different inherited disease panels being sequenced by Next Generation sequencers, and also the conventional array CGH that give very detailed information which would help to evaluate the baby’s health or the quality of the embryo implanted.
Sometimes embryo biopsy for PGD is also needed under supervision of gynecologists, infertility specialists and embryo specialists. There are very few fertility clinics and IVF clinics in Kolkata offer affordable PGD cost in India.
Care IVF under supervision of Dr. Rajeev Agarwal (gynecologist and infertility specialist) offers IVF with PGD. That offers genetic testing of embryos in IVF.
These tests help both the doctor and patients to take informed decision regarding the embryo implanted or the unborn child thus reducing the trauma of a possible diseased child or multiple abortions to some extent.
Genetic tests don't yield easy-to-understand results. They can reveal the presence, absence, or malformation of genes or chromosomes. Deciphering what these complex tests mean or predicting the need to do more detailed tests in case of some families is where a genetic counsellor comes in.
Prenatal genetic counselling is appropriate
- Women age 33 and older
- Women who have had abnormal results from prenatal screening tests, such as ultrasound and blood work
- Women concerned about an exposure, such as medications or infections, during pregnancy
- Couples with a family history of a genetic condition
- Couples who have experienced multiple miscarriages
- Couples who are experiencing infertility
- Individuals who are known carriers of a genetic condition
Our genetic counsellors provide:
- Information about the risk of foetal abnormalities and further testing options
- Information about the chromosome abnormality, birth defect or genetic condition of concern
- Consideration of the factors involved in decisions about carrier or prenatal testing
- Coordination of genetic testing
- Results from testing performed through the centre
- Resources and educational materials