all about genetic testing before and during pregnancy

Know all about Genetic Testing before and during Pregnancy. Genetic testing or Carrier Screening is a blood test conducted in perspective or expecting parents to look for abnormal genes that can lead to certain genetic diseases in their baby. These are known as “recessive disorders”, which means that it can only be caused when each parents passes along an affected gene to the baby. Even if both you and your partner screen positive during this test, there is only a 25 percent chance of your baby inheriting the disease.



Usually, doctors recommend genetic testing before you start trying to get pregnant. But in cases of unplanned pregnancies, couples can get screened early on after getting pregnant. Screening before you try to get pregnant can let you know if you or your partner is a carrier and can help you make an informed decision. If both of you are carriers, you can try and read up on what it means to have a baby with genetic conditions. You can also consider other options like egg or sperm donation, or adoption.

Testing during pregnancy can help you and your doctor decide on the prenatal tests necessary for you and your baby, and what to look for, if you choose to have them. For example, if your baby is at an increased risk for having cystic fibrosis or sickle cell disease, your doctor can look for those conditions specifically through either a CVS or amniocentesis.


  • Cystic Fibrosis is a life-threating condition that can cause lung damage and digestive problems. Mostly Caucasians or people of Northern European descent are affected by it. About 30,000 people in the U.S. have this disease.
  • Sickle Cell Disease is common in people of African and Mediterranean backgrounds. It causes a blood disorder that leads to anemia, weakened immune system, and other health complications.
  • Thalassemia is yet another blood disorder common to people of African and Mediterranean descent. It causes anemia, bone growth and liver problems, and in rare cases, babies born with this condition may not survive.

Why Genetic Testing is Beneficial

Genetic testing can help give you an idea of your risk for passing along genes that can result in certain diseases in your baby.

  • If neither of the two of you Is a carrier, your baby will not inherit any genetic condition.
  • If you are a carrier, but your partner is not (or vice-versa), your baby will not inherit the condition.
  • If you and your partner are both carriers, your child has a 25 percent chance of inheriting the condition.

While genetic testing can give you and your partner the chance to take a decision based on your screening result, it’s not foolproof. Some genetic tests such as cystic fibrosis can only identify some of the mutations in the genes that cause the condition. However, genetic testing is highly recommended if you are at risk. Our doctors at KIMS Cuddles may be able to better guide you through the necessary tests.


*Information shared here is for general purpose Please take doctors’ advice before taking any decision.

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