Early detection of diseases can help parents and doctors to help in early intervention and treatment. NEERAJ GUPTA tell us the importance of genetic testing among other things

Any couple planning to have a baby may have already compiled a list of the family’s medical history to analyse whether the future child is at risk for any disease. But, apart from questioning your parents or making notes on family medical history with pen and paper, there is another type of test that can determine the possibility of any genetic disorder in your unborn child. These tests are called genetic tests which look for any chromosomal abnormality in the foetus or look for mutated genes which may be carried through from parents to the child.

Genetic tests can be performed even before you conceive or during the pregnancy. Early detection can reveal whether you and your partner are at risk of passing along certain genetic diseases such as Tay-Sachs’s disease or cystic fibrosis to your child (children).

There are various types of genetic tests done during each conception stage, whose results can help in knowing the pregnancy outcome or achieving a healthy pregnancy.

Carrier testing is the first step of genetic testing even before conception. The test helps the couples learn if they carry any mutated gene and are at risk of passing these genes to their children, thus causing diseases such as cystic fibrosis, beta thalassemia, sickle cell anaemia, and Tay-Sachs disease. This type of genetic testing is usually recommended for individuals with a family history of a genetic disorder and people in ethnic groups with an enhanced risk of specific genetic conditions. When both the parents are tested, it can help provide information about the couple’s risk of giving birth to a child with a genetic condition.

Prenatal diagnostic testing is done to detect the changes in a foetus’s genes or chromosomes. Couples who are at an increased risk of having a baby with a genetic or chromosomal disorder are recommended by the doctor to undergo these tests. With the help of amniocentesis or chorionic villus sampling, fluid or tissue for testing is obtained to check for any irregularities.

The most popular genetic testing is new-born screening. Doctors recommend every new-born child undergo screening for genetic diseases. Early detection of diseases can lead to interventions and aid in preventing or delaying the symptoms of the disease.

There are several options that you can review with your partner and care team. After you get pregnant, you can take the prenatal screening or a diagnostic test to know for certain if your baby has any genetic disorder.

If you and your partners are both carriers of any genetic disease, then you can get pregnant with donor eggs or sperm via in vitro fertilization (IVF). This process involves testing the embryo for genetic disorders before it is transferred to the uterus. You can talk to your genetic counsellor or doctor to help you plan a path for a healthy pregnancy.

The writer is  Founder and CEO, Genes2Me