Genetic screening for birth disorders! How does it help in planning a healthy pregnancy?

Are you two planning to get pregnant? And you don’t want to take any risks? Then, there are high chances that your doctor can suggest genetic carrier screening.

Why? That’s to prevent any risks of either you or your partner passing along genetic diseases or birth disorders to your children.

Genes come in pairs at the time of birth. A baby gets two sets of genes: one each from mom & dad both. The sperm & the egg (two sets of DNA which include chromosomes & genes) combine to form a new mixture that is the unique genome of the baby.

When a gene from one or both the parents contains a mutation (an unusual change), the risk of passing on that mutation to your baby arises. That future offspring might be prone to developing certain birth disorders or serious diseases.

Troublesome, isn’t it?

Well! Luckily there is a very useful tool at your disposal that can help you find out if you’re a carrier of any genetic mutation. It will lead to avoiding the risks and making informed choices. That is, Genetic Carrier Screening!

Let’s understand: What is genetic carrier screening?


Once you start planning for a baby, you take care of your health on priority. Isn’t it? That includes your routine health checkups to ensure that you both can go ahead and plan a safe pregnancy.

Similarly, genetic screening is also a cautionary medical test that lets you know whether you or your partner is a ‘carrier’ for certain genetic disorders. And to check if there are any odds that your future offspring might inherit them. Carrier screening will make you informed and help to make wiser decisions.


What does it mean to be a genetic carrier?


A carrier is someone whose DNA contains a genetic mutation (as mentioned above) that’s the harbinger of a disease, even though you might be absolutely healthy.

When planning for a baby, if either or both the would-be parents are the carriers, they pass the genetic mutation along to the future child. The outcome: the baby suffers birth disorders or certain serious diseases.

Although some mutations are harmless, some others are slightly risky, while some lead to serious illness. Whatever it is, you can’t take the risk! Right?


Who should consider taking genetic carrier screening?


Carrier screening is recommended for all couples who are planning to conceive.

Prenatal testing is the best strategy for reducing the burden of genetic disorders and birth defects that cause significant postnatal functional impairment. Universal prenatal screening is advisable for common genetic disorders such as Down syndrome, beta thalassemia, neural tube defects.

However, it’s completely up to the would-be parents to decide about taking it or not. The aim of screening is always to provide you with all the genetic information that helps avoid the risks of birth disorders and make informed decisions that suit your socioeconomic, family & individual situation.

For whom genetic carrier screening is recommended?


  •   Couples who’re planning for a baby for the first time
  •   Women who are above 30 years of age & planning to get pregnant
  •   Either one or both partners have inherited genetic illness
  •   Women who’ve suffered one or two miscarriages
  •   Parents having one child with serious birth disorder

Most common genetic diseases


  •   Heart defects
  •   Down syndrome
  •   Neural tube defects
  •   Blood disorders (Sickle cell disease & Thalassemia)

The future of safe pregnancy: Prenatal Genetic counselling & carrier screening


Prenatal genetic healthcare helps you get ready for a healthy postnatal world. The best time to know all about your genes is before getting pregnant. You can always start on your genetic healthcare by talking to a counselling expert. He/she can guide you on the further steps whether you require undergoing genetic testing or not.


A carrier screening test is recommended if either one of you has any genetic inheritance or illness history. Or even after an expert does the analysis, if any risk of mutation is hinted at, a carrier screening test is always advisable. These tests are mostly conducted to identify the likelihood of certain birth or genetic disorders in the baby.

Carrier screening tests are non-invasive in that they are often done through a simple blood test. There are minimal/no chances of getting any physical risks after this test.

If you’re planning to get connected with a trusted prenatal genetic healthcare partner, trugeny’s geneticists and counselling experts are there to take care of you. Throughout your prenatal & postnatal genetic care, we remain in constant touch with your ob/gync to share your genetic testing reports with them. Our goal is to lead you towards a safe and healthy pregnancy & risk-free family planning.

If you’re up to it, it’s the right time to talk to a genetic counselling expert.

Book your genetic counselling session now!




Your Genes Matter. Take Charge.