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What is Carrier Screening?

Carrier screening is a type of genetic test that can tell you whether you carry a gene for certain genetic disorders. When it is done before or during pregnancy, it allows you to find out the chances of having a child with a genetic disorder.

Guidelines

In recognition of how critical genetic testing is in preparing for and managing a successful pregnancy, The American College of Obstetricians and Gynecologists (ACOG) expanded guidelines on carrier screening in two new Committee Opinions released February and March 2017.

The expanded guidelines recommend testing for genes associated with commonly inherited diseases including cystic fibrosis, muscle dystrophy, cardiomyopathy, metabolic, and many other diseases

Expanded Carrier Screening

Sometimes referred to as pan-ethnic or universal screening allows testing of all individuals regardless of ethnicity. Utilizes new technology called Next Generation Sequencing and can screen for conditions across the spectrum from mild to severe. While ECS can provide better detection rates than traditional carrier screening in pan-ethnic groups, some of the conditions screened for are mild while others are quite severe.

What do my results mean

If only one parent is a carrier, then the child has a 25% of being a carrier for that disorder and a 0% chance of having the disease.

If parents are carriers of the same gene mutation, then the child:

  • Has a 25% chance of inheriting one affected gene from each parent and being born with the disease.
  • Has a 50% chance of being a carrier just like the parent who is a carrier.
  • Has a 25% chance of not being a carrier and not having the disorder.

This risk remains the same for each pregnancy