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Genetic tests during pregnancy? Yes or No?

While mothers today are very vigilant about their health during pregnancy and more so are ready to take that extra step for their baby’s health not only during those nine months but for a lifetime. All that mother’s today want to gift their babies is a promise of good health for a lifetime. Hence Every aspect of pregnancy is now scrutinized up and close — sometimes even at the time of beginning even before egg meets sperm, any expectant parents can gauge if they are carriers for diseases they could pass on to their offspring. As a child takes most of its features from his/her parents, so can their present or future diseases.

The human DNA is transferred from the parents to the off-spring, there is nothing impossible in the world of science today to a level that the same DNA can reveal a lot more about the health and well-being of the child. As the world is now more concerned about the rampant diseases, a healthy baby is the first priority in India. What about getting to know about the baby’s healthy development in the prenatal stage as it is becoming more accessible and cost effective in India, with a vast array of specific solutions from routine biochemical tests to advanced genetic tests to determine the probability of the child of being affected by any abnormality.  it is now possible to learn a significant amount of information about your unborn child through prenatal testingGenetic testing holds the power to predict any abnormalities that may arise during and after pregnancy.

The secrets to a healthy life are hidden in our Genetic make-up, our DNA is the ultimate source to predict the diseases today that can weigh us down later in life. This screening is not just for adults or kids but the unborn foetus too. There are some genetic tests available for the child who is yet to be a part of the world, these tests usually are suitable after the second trimester. It’s the mother’s DNA that can help to predict the dangers of genetic disorders, if any - During pregnancy

1.       Maternal Serum Screening: Maternal Serum Screening Tests are the initial stage tests for a pregnant mother. These are screening tests to check for any abnormality that may arise during the pregnancy at a hormonal level. If a high risk is reported for any disorder, the pregnant mother can opt for a non invasive or invasive procedure to confirm the results. It further is subdivided into three categories: - Double Marker Test, Triple Marker Test, and Quadruple Marker Test. 

2.       Non-Invasive Prenatal Testing (often referred as “NIPT”) can be post 10 weeks in pregnancy, measured from the Last Menstrual Period (LMP). These DNA tests analyse the cell-free foetal DNA present in the mother’s blood from a few weeks into pregnancy and being a non invasive procedure the test has gained credibility and trust throughout the world. It Checks for common chromosomal abnormalities for Trisomy 13, 18 and 21 and all other trisomies causing genetic disorders.

3.       New Born Screening - New Born Screening identifies if your baby has an IEM disorder (inborn error of metabolism), that isn’t otherwise observable at the time of birth. These disorders are treatable if identified at an early stage in life. If left untreated these disorders pose problems in the development of brain, body, immune system and lead to permanent damage and disability in your child. The screening test is quick, safe and cost effective. It is recognized by the World Health Organization (WHO) as one of the most effective health initiative of the 21st century.

4.       Hemoglobinopathies: Thalassemia & Sickle Cell screening come under the category of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Beta Thalassemia is a common inherited blood Disorder that reduces production of hemoglobin due to mutation in one or both copies of beta globin gene (HBB). 

5.       Genetic disorder screening: It covers most of the common genetic disorders and making it compulsory screening for all women during pregnancy. 

·         Thrombophilia Screening

·         Achondroplasia Screening

·         Cytomegalovirus detection test

·         DMD

·         SMA genetic test

·         Clinical exome sequencing

·         Validation of NGS data

·         Cystic Fibrosis(CFTR) Gene Sequencing

6.       Pathology test: Includes screening at early stages of your pregnancy which covers more than 70 parameters, guiding you on common infections, deficiencies, or chances of any hereditary disease during pregnancy.

Choosing just one of these tests would be recommended by your gynaecologistGenes2Me is on a mission to educate and make individuals aware to achieve Early Diagnosis, Healthy Babies.