What type of birth defects can be tested for?

Every aspiring parent wants nothing but the best for their future baby, within their available resources. It is pretty much normal for Indian couples to be seen fretting about making accommodations in their expenditures, saving up more for the future and cutting down on small luxuries just to ensure that their baby can enjoy everything that they never could as children. Amid all this, a very important fact slips under the notice of everyone. That is the health and physical wellbeing of the baby to-be. But you say you will dote on your pregnant wife, follow the diet pattern prescribed by the doctor and ensure all necessary exercises and medications are followed. What else is left? Birth defects or congenital anomalies account for around 6-7% of the births in India, annually (as per 2016). These can be passed on to your child through your genes. Traditional healthcare offers little help in such situations.”types of birth defects”

prenatal genetic counselling and testing,types of birth defects

Considering 1.7 million birth defects reported in a year (2016), that is not a number to make light of. Genes that make up your body and govern how your system reacts to food, medicines, diet, exercise and the environment, get passed on to your child. The baby receives portions of its DNA from both parents, though it might not exactly be in a 50-50 ratio. Keeping this in mind, if a parent has a genetic structure that tends to be more risk-ridden towards getting diseases, the same can be passed on to the child. Everyone wants a healthy baby and don’t want any future health problems to occur as well. But genetic structure is something that we cannot change for ourselves; at least not through known methods available today. The more pragmatic option however is well within reach – prenatal genetic counselling and testing.

So, what is prenatal genetic counselling and testing all about? Through genetic carrier screening done on prospective parents before a baby is conceived, it can be determined if the baby might have potential susceptibility to certain diseases. It can also be done during the second pregnancy to help determine whether further testing may be considered. This brings us to the question – what diseases can be genetically inherited?

There are close to 15-20 known birth defects around the world and the rate of occurrence differs as per the demography, race and nationality. Out of these, defects related to the heart, brain and blood are commonly found. Like for example, beta thalassemia, in which the genetic defect causes the blood to produce a less than required amount of haemoglobin. Due to this, the body and the brain might not receive the appropriate amount of oxygen, since the blood’s capacity to absorb oxygen is reduced. This can show up as slow muscular and neural development and cause the child to be quite weak. An inherited defect with similar traits is sickle cell anaemia. Perhaps the most common form of defect that would be known to the general public is haemophilia. Due to the inability of the blood to form clots, any minor cut might take longer to heal, and any major accident might lead to severe and possibly fatal blood loss.All these are more are conditions that can be easily found out through genetic counselling and testing. If you are planning for a baby, and taking every precaution that you can, getting a consultation and if needed, testing your genes can reveal a lot of information about the possibilities of health risks that your child could face in the future. Being informed of the same can help you make better decisions about your parenthood and if possible, also be ready for certain health conditions that can be treated through timely medication and support. Prenatal genetic counselling and testing isn’t just for people who are planning to become parents for the first time. It can even help those who have had miscarriages or other complications during an earlier pregnancy. To ensure that your child is born healthy and has no genetic health risks associated, it is imperative that you consult a genetic counsellor when planning for a baby. At truGeny, our team of certified genetic counsellors and highly experienced medical professionals are here to help you out with any question you might have about family planning. Just reach out to us at support@trugeny.com or visit us at www.trugeny.com.