Learn More About Reproductive Genetic Testing

Reproductive carrier screening can help determine an individual or couple’s risk of having a child with an inherited genetic disease.

What does it mean to be a carrier?

Everyone’s genes come in pairs. A carrier of a genetic disease is a person who has one gene that does not work correctly, but the other works just fine. The working gene keeps the carrier healthy. A person wouldn’t know that they carry a particular disease gene unless they got tested or had an affected child.

The JScreen testing panel includes diseases that are inherited in an autosomal recessive pattern and others that are inherited in an X-linked pattern.

Autosomal Recessive Disorders

When two people who are genetic carriers for the same recessive disease, they are called a carrier couple. Carrier couples have a 1 in 4 chance in each pregnancy of passing on their non-working genes and having a baby with the genetic condition.

X-Linked Disorders

For X-linked conditions, a child may have symptoms if they inherit the disease gene from only one parent.

Everyone is a carrier for something. Therefore, anyone who is considering having a child or expanding their family should have carrier screening. JScreen tests for genetic diseases that are common in Ashkenazi, Sephardi and Mizrahi Jews, as well as the general population, making this test valuable for everyone - including interfaith and inter-ethnic couples. Updating testing between pregnancies is recommended because new diseases are added to the testing panel as technology advances.

While many people will test positive for at least one disease, only a small percentage of couples will find they are both carriers for the same disease - putting them at high risk to have a child with a genetic condition. The good news is there are options to help these couples plan for a healthy baby.

Preimplantation genetic diagnosis (PGD)

Preimplantation genetic diagnosis or PGD is a safe procedure that involves in vitro fertilization and testing on embryos at risk for a particular genetic disease. This is usually performed in a fertility clinic by a specialist. PGD has been used for over 20 years to help thousands of couples have healthy children.

Use of donor sperm or egg

Donated genetic material (sperm or egg) from a non-carrier individual can be used in combination with either an egg or sperm from a couple to prevent a genetic condition.

Adoption

A carrier couple can choose to become parents through adoption.

Prenatal Diagnosis

Prenatal diagnosis involves testing a pregnancy to determine whether a genetic condition is present. This can be done as early as 10 weeks to approximately 18 weeks into the pregnancy, and is very accurate if carrier screening has already identified that the parents are at risk.

Preparation and Early Treatment

Knowing that your children are at risk for a condition allows you to prepare for that possibility. This preparation can range from moving to be closer to family to learning about the disease. You can also have your children tested for the condition early so that any needed treatments can be started right away.

For couples facing these choices, JScreen can refer you to a local genetic counselor or specialist who can give you more information about each of these options. Contact [email protected] if you are interested in a referral.

Watch this short animated video to learn more about JScreen’s reproductive carrier test.