Genetic testing before and during pregnancy

Understand how your genes can affect your future family

  • 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.
  • All individuals should consider carrier screening, regardless of their ethnicity or whether they have a family history of a genetic disorder. More than 80% of children with a genetic disorder are born to parents with no family history or symptoms of the disorder.

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.Work with your doctor to discuss carrier testing options and order your test.

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 2 weeks on average (10 to 21 days).

3. Register online to track the status of your test and request results.

4. If you test positive as a carrier for a genetic disorder, talk to your doctor or one of our genetic counselors about the next steps. For many conditions, it is important that both you and your partner are tested.

Invitae carrier screening

Carrier screening provides you with actionable information about the risks of passing on a genetic disorder to a child. When you undergo carrier screening, your DNA will be sequenced to determine whether you carry gene variants associated with disorders like cystic fibrosis, Fragile X syndrome, spinal muscular atrophy, and hundreds of other severe conditions.

Disorders tested

While it’s up to you and your doctor to determine which test is right for you, our most comprehensive test screens for up to 287 disorders, including:

  • all disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG)
  • an extended list of disorders recommended by national Jewish societies
  • disorders that may have a severe presentation
  • a selection of disorders found on the
  • several X-linked disorders, including Fragile X syndrome

View all disorders and genes >

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Plan for success in IVF with Invitae Preimplantation Genetic Testing for Aneuploidy (PGT-A)

  • When you are going through treatment for infertility, you want to plan for success.
  • Preimplantation genetic testing for aneuploidy (PGT-A) is a way of identifying embryos with the correct number of chromosomes to improve your chances of a successful pregnancy.
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Ask your doctor about carrier screening

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