Understand how your genes can affect your future family

Prepare for tomorrow with the answers you need today

  • When you’re pregnant or planning to become pregnant, you want to be prepared for what’s ahead. With carrier screening, you can increase the chance of having a healthy baby.
  • Carrier screening is genetic testing that can be done before or during pregnancy to check if you are a carrier of a genetic disorder that could be passed on to your child.

What is carrier screening?

  • Carrier screening is a type of genetic testing that helps identify if you and your partner are carriers of a genetic disorder that you can pass on to your child.
  • Being a carrier of a genetic disorder doesn’t mean you have that disorder. It just means you have a change (called a variant) in one copy of a gene that could cause a genetic disorder.
  • Since you can pass on a genetic disorder to your child without having the disorder yourself, carrier screening is recommended for all individuals who are pregnant or planning a pregnancy.

Most genetic disorders are passed down in an autosomal recessive pattern

  • Most people don't know they are carriers until they've had screening because carriers typically do not have symptoms.
  • You and your partner both need to be carriers of the same disorder to be at increased risk of having an affected child.
  • If both parents are carriers of the same disorder, there is a 1 in 4 chance that the baby will inherit the disorder.

Other disorders follow an X-linked inheritance pattern

  • Females have two X chromosomes, while males have one X and one Y chromosome. X-linked inheritance means that the gene associated with the disorder is located on the X chromosome.
  • Carrier females typically do not have symptoms because they have a working copy of the gene on their other X chromosome.
  • Because they only have one X chromosome, males who inherit the disease-causing variant from their mothers will be affected by the disorder.

How it works

1. Discuss your family history and ethnic background with your doctor to understand what disorders you should be tested for.

2. Provide either a blood or saliva sample. Once the laboratory receives your sample, your DNA will be tested and your doctor will receive your results in 10 to 14 days.

3. If you test positive as a carrier for a genetic disorder, talk to your doctor about the next steps. For many conditions, it is important to have your partner tested.

4. Discuss you and your partner’s results with your doctor or one of our genetic counselors to make informed decisions about your future or current pregnancy. Log in to your patient portal to schedule your appointment with a genetic counselor.

The right test for you

You and your doctor can select the tests that matter most for you based on your medical and family history, your ethnicity, and the guidelines of leading medical organizations like the American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG).

Pan-ethnic tests for common disorders

Some genetic disorders are relatively common and carrier screening is recommended regardless of ethnic background.

Tests available:

  • Cystic fibrosis (CF)
  • Fragile X syndrome
  • Spinal muscular atrophy (SMA)

Ethnicity-specific tests for blood disorders

Hemoglobinopathies are a diverse group of blood disorders seen in various populations.

Tests available:

  • Alpha-thalassemia
  • Beta-thalassemia
  • Sickle cell disease

Tests for Ashkenazi Jewish disorders

People of Ashkenazi Jewish descent typically have ancestors from Eastern Europe. While these disorders are most common in individuals of Ashkenazi Jewish descent, they may occur in people of other ethnic backgrounds.

Tests available:

  • Bloom’s syndrome
  • Canavan disease
  • Cystic fibrosis
  • Dihydrolipoamide dehydrogenase deficiency
  • Familial dysautonomia
  • Familial hyperinsulinism
  • Fanconi anemia (group C)
  • Gaucher disease
  • Glycogen storage disease type 1A
  • Joubert syndrome 2
  • Maple syrup urine disease type 1A/1B
  • Mucolipidosis type 4
  • Nemaline myopathy
  • Niemann-Pick disease type A/B
  • Tay-Sachs disease
  • Usher syndrome type 3
  • Usher syndrome type 1F
  • Walker-Warburg syndrome

Plan for a healthy pregnancy with EmbryVu PGS

  • When you are going through treatment for infertility, you want to plan for success.
  • Preimplantation genetic screening (PGS) with EmbryVu is a way of identifying embryos with the correct number of chromosomes to improve your chances of a successful pregnancy.

Ask your doctor about carrier screening