In a country as vast and diverse as India, genetic disorders pose a significant health care challenge. Carrier screening, a type of genetic testing designed to identify individuals with recessive genes for a genetic disorder, is emerging as an essential tool for couples planning to start a family.

In this advanced medical scenario, understanding our genetic makeup through such tests has become an important part of family planning.

Understanding Carrier Screening

Carrier screening is a genetic test that helps identify whether a person has a mutated copy of a gene associated with a genetic disorder. People who have these mutated genes usually do not show any symptoms of the disorder.

However, if both partners in a couple have the same recessive gene mutation, there is a 25% chance that their child may inherit the disorder. This risk underlines the importance of carrier screening for informed reproductive choices.

India has a significant prevalence of genetic disorders such as sickle cell anemia, thalassemia, cystic fibrosis and phenylketonuria (PKU).

Given the widespread occurrence of these conditions, carrier screening may play an important role in reducing the incidence of genetic disorders by providing couples with important information about their genetic risks.

Importance of Carrier Screening

Carrier screening provides couples with the knowledge needed to make informed reproductive choices.

Dr Richa Soni, Consultant – Medical Genetics, Fortis Memorial Research Institute, Gurugram, said, “Knowing their carrier status will enable them to consider options like prenatal genetic testing, selecting embryos without the mutated gene or even adoption.” Allowed to think.” ,

If a couple is found to be at high risk of having a child with a genetic disorder, early detection through screening may allow timely medical intervention.

For example, strict dietary management for PKU can prevent intellectual disability, and early treatment of sickle cell disease can help prevent painful health crises.

Additionally, Dr. Soni said that understanding one’s genetic status can reduce couples’ anxiety, giving them clarity about their fertility plans. Early detection of genetic disorders can also avoid the need for expensive treatment later.

For example, early management of cystic fibrosis may reduce the need for a lung transplant or other costly interventions.

genetic counseling

Carrier screening is usually accompanied by genetic counseling, which helps couples understand the inheritance pattern of the disorder, the risks involved, and their reproductive options. Consult a medical geneticist to assess your family history and recommend appropriate tests before planning a pregnancy.

After consultation, your medical geneticist can recommend reputable laboratories that provide carrier screening services.

The test usually requires a blood or saliva sample, which will be analyzed for the presence of the mutated gene.

Once test results are available, your medical geneticist will interpret the findings, helping you understand your carrier status and its implications. Depending on the results, your doctor can guide you about reproductive options, such as prenatal testing, PGD, or adoption.