Carrier screening for inherited genetic disorders

Carrier screening during pregnancy
What is genetic carrier screening?

Carrier screening is testing that’s done to see whether you or your partner carry a genetic mutation that could cause a serious inherited disorder in your baby. Some of the more common disorders screened for include cystic fibrosis, sickle cell disease, thalassemia, and Tay-Sachs disease, but there are more than 100 others that can be tested for.

Many of these conditions are rare, but one large study found that 24 percent of the patients tested were carriers of at least one mutation. And the average risk of having a child with one of these diseases is higher than that of having a child with Down syndrome or a neural tube defect. What’s more, these conditions will not be detected by prenatal tests like CVS and amniocentesis unless you have carrier screening first.

Here’s how it works: These disorders are recessive, which means that a baby must inherit a defective gene from each parent to have the disease. If you’re a carrier of a defective gene for a recessive disorder, that means you have one normal copy of the gene from one of your parents and one defective copy from the other. (Carriers don’t usually have any symptoms of the disease.)

If both you and your partner are carriers of a disorder like cystic fibrosis, sickle cell disease, or Tay-Sachs disease, your child will have a 1 in 4 chance of inheriting one defective gene from each of you and being born with the disease.

How is genetic carrier screening done?

Ideally, you should have the option of being screened before you try to conceive. Your practitioner should offer it to you at your preconception visit. This way, if you find out that you and your partner are both carriers for a condition, you’ll have a wider range of options. You can talk to a genetic counsellor who will be able to tell you more about the condition and help you sort out your reproductive choices. (More about that below.)

Traditionally, couples have only been offered screening for one or two of the most common mutations if they are determined to be at risk for being a carrier. Risk factors include having a family member with the inherited disorder or who’s a known carrier, or being part of an ethnic group at increased risk for the disease.

Source: babycentre

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