The news of pregnancy brings with it different feelings—happiness, anticipation but sometimes worry and anxiety. Some parents worry that their unborn baby might have health problems. While most babies are born healthy, genetic testing can provide you with a closer look and certainty into your and your baby’s health.
Genetic testing checks for the medical conditions of the babies while in their womb. Even before the pregnancy, genetic testing looks at the parent’s genes to know the chances that the child born might have a genetic disorder.
These genetic tests are mostly optional, but these tests can help you plan a healthy pregnancy. So, you can make the right health decisions and know what to expect when your baby comes.
Genetic testing before and during the pregnancy
Genetic testing is important to plan a pregnancy because it shows the likelihood that an unborn child will have certain inherited health conditions. If a parent (mother or father) has a gene for the disorder but doesn’t have the condition themselves, they are called a carrier. Genetic screening before pregnancy tells you if you or your partner possess those genes, and if so, what are the chances that you might pass these genes to your children.
Genetic testing during the pregnancy determines with as much certainty as possible if the unborn child has certain genetic disorders or birth defects. With the help of genetic tests during the pregnancy, parents can make an informed decision after consulting with the health care provider. Genetic tests also help your healthcare provider personalise their care for the parents or newborn baby, which enhances the chances for a healthy pregnancy.
Many new-age diagnostic companies are providing genetic testing to parents for a healthy pregnancy. For example, Genes2Me, India’s leading diagnostic company, offers a mother and child care segment dedicated to covering each facet of the pregnancy journey. The genetic testing lab offers prenatal and postnatal screenings, newborn screenings, and pediatric developmental disorders with complete pregnancy screening solutions all in a single place.
Genetic tests before pregnancy
Many genetic abnormalities can be found before the baby’s birth. Your health care provider may recommend you take the genetic screening test if you or your partner has a family history of genetic disorders. In addition, if you have had a fetus or baby with a genetic abnormality before, genetic testing can help you know your unborn baby’s health.
Some of the genetic disorders that can be diagnosed before birth include Cystic fibrosis, Duchenne muscular dystrophy, Hemophilia A, Polycystic kidney disease, Sickle cell disease, Tay-Sachs disease, and Thalassemia. Genetic testing before birth can help you know if you are likely to have a baby with the above genetic disorder.
Genetic test at each stage of pregnancy
There are different pregnancy genetic tests during each stage of the pregnancy.
First-trimester screening tests – During the first trimester, parents are recommended by the health care provider to go for a blood test and an ultrasound test. This test is required to measure the size of the clear space in the tissue at the back of a baby’s neck (nuchal translucency). In the case of nuchal translucency measurement is abnormally large, it may imply that the child is suffering from Down syndrome or other medical conditions. Also, the couple carrier screening of beta-thalassemia and sickle cell anaemia is highly recommended during the first trimester.
Second-trimester screening tests – During the second trimester, Quad screen tests are recommended. This is a blood test where levels of four substances are measured in the blood. The test determines the risk of carrying a baby with certain chromosomal conditions, such as down syndrome, trisomy 18, etc. The genetic test also helps detect neural tube defects—any abnormalities of the spinal cord or brain.
Prenatal cell-free DNA screening – Fetal DNA in the maternal bloodstream is examined to screen for the increased chance for specific chromosome problems, such as Down syndrome. You can also gather information about the baby’s rhesus (Rh) blood type.
Newborn screening test – After the baby is born, newborn screening tests are recommended to detect any abnormalities in your baby’s genes that might cause him or her to develop certain health conditions, such as inborn errors of metabolism. Genetic tests are important because they can diagnose the medical condition early, and therefore treatment can be started before any complications develop.
The way forward
It is the parents’ choice to choose any carrier screening, prenatal screening, or prenatal diagnostic tests. Genetic testing for pregnancy checks the unborn babies for medical conditions while they are still in the womb. Even before the pregnancy, genetic tests are helpful to understand what kind of genes the parents are passing to their child(children). Genetic testing plays a crucial role in planning a healthy pregnancy, and therefore many parents are opting for these genetic tests because they do not want to leave their chances to fate.
The writer is founder and CEO of Genes2Me.