When Should One opt for Prenatal Genetic Counselling

There are people who love babies, those who adore them or those who haven’t given a thought about progeny. But if you are planning on having a baby, irrespective of if you are going to be a mother or a father, certain responsibilities are unavoidable. You might say, yeah, there’s a lot of financial and medical preparation to be done and that you have already accounted for all of that. Sure, but have you accounted for your genes? Apart from the love, care and affection that you’re going to give your child, you also pass on your genes. What’s so wrong with that? Genes are responsible for the way you look, how your body functions and how healthy you are. Genes regulate everything, from your allergies to how strong your immune system is. Genes are passed on from a parent to a child and at times certain genes are responsible for causing diseases. The goal of prenatal genetic counselling and genetic testing is to help you understand if there’s any risk of you passing on these genes to your future baby.

That short bit of information doesn’t necessarily clarify everything. After all, you have been healthy for the better part of your life and so has your partner. What possible risk could come to your child? A child born to two healthy parents should be healthy as well. Of course, that is true for most cases. But did you know that over 80% of babies born with genetic disorders have no known family history of diseases.  Almost 30% of all birth defects have a known cause that can be explained and understood through prenatal genetic counselling and testing.

If there have been no medical complications or birth defects in your family history, you might be among the standard 3-4% background rate for birth defects. However, there are few family lines where everyone is born pristine and has no health issues later in life. Genes have flowed down from your most ancient ancestors, have worked in tandem with environmental factors to make you the person you are today. If you take longer to recover from a common cold or you heal fast from cuts and bruises, it is all due to your genes.

If you are looking to get married and planning for a baby soon, a prenatal genetic counselling can help in a lot of ways. Counselling might or might not be followed by testing. This is further confirmed by your genetic counsellor. A genetic counsellor will analyse your and your spouse’s family health history and let you know if you should go for prenatal genetic testing. If the test is done, your genetic counsellor can guide you through the test results and explain what it means for you and your future baby. Some common situations when genetic testing is advised to include the following –

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  1. The couple planning for a baby has a close relative with an inherited illness
  2. The pregnant woman is over the age of 30
  3. First pregnancy resulted in the birth of  a baby with a genetic disorder
  4. Standard prenatal screening test yields an abnormal result
  5. There have been one  or more prior miscarriages
  6. A stillborn baby  has been delivered with signs of genetic illness

You might be sure of your entire family’s health history, but when it comes to your baby, the inherited genes from your spouse also play a major role. Some of the genetic disorders that can be detected through prenatal genetic testing are the following –

  1. Cystic fibrosis – An inherited life-threatening disorder that affects cells that produce mucus, sweat and digestive juices making them thicker. This can plug up tubes, ducts and passageways inside the body
  2. Fragile X Syndrome – This disorder can cause mild to severe intellectual disability
  3. Sickle cell disease – A disorder that causes blood cells to become misshapen, break down faster than usual leading to anaemia or blockage of blood flow
  4. Tay-Sachs disease – A rare disorder that destroys nerve cells in the brain and the spinal cord
  5. Spinal muscular atrophy – A group of neuromuscular disorders that result in loss of motor neurons and increasing muscular wasting
  6. Thalassemia – A disorder where the blood cells have less than optimal amounts of oxygen-carrying protein.

Keeping the above common detectable disorders in mind, you can understand the seriousness of the situation when a baby is born with such conditions. It is even more worrisome to consider that children born with such disorders can be from normally healthy patients. Genes with disorders can remain dormant for people through multiple generations without ever showing up their effects. However, problems start when genes of both parents combine in a child and from being a harmless carrier, the baby shows symptoms of disorders. Prenatal genetic counselling and testing is not a cure for such disorders; however they help you understand the possible health complications that your baby might have. At truGeny, trained and certified genetic counsellors help you and your spouse understand your family health history, advise you if you need genetic testing done, analyse the reports thereof and guide you towards options that can help you achieve your plan of starting a healthy family. 

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.