Carrier screening before pregnancy

genetic carrier screening · preconception genetic test · couple genetic screening · carrier test

This test shows whether a person carries a hidden gene change that does not harm them but can be passed to a child. Usually both future parents take it.

When planning a pregnancy, if genetic conditions run in the family, if the partners are related, and with IVF.

⏱ Duration: the blood draw usually takes 5 minutes; results usually come in 2 to 4 weeks

Be sure to tell your doctor

If genetic conditions, or children with them, have been in either family
If you and your partner are related
If you are already pregnant, and how far along
If you had a blood transfusion or a bone marrow transplant

How to prepare

Counseling. It is best to talk with a geneticist ahead of time about which conditions the test covers.
Food. You usually do not need to fast. Check with the lab.
Your partner. Agree on who goes first, or do it together. That gets the couple an answer faster.

What to bring

Your referral
ID for both partners
Information about conditions in both families

How it goes

You sit down and rest your arm on the armrest
The skin is wiped with antiseptic
Blood is taken from a vein. Sometimes saliva is collected instead
Your partner does the same
The samples are sent to a genetics lab

What you'll feel

A quick prick, like a normal blood test
Sometimes slight dizziness. Tell the nurse, and they will help you lie down

Afterwards

Results usually come in 2 to 4 weeks
Almost everyone carries some gene changes. This is normal
There is a risk for the child when both partners carry a change in the same gene
If that happens, a geneticist will explain your options

Common questions

If I am a carrier, am I sick?

No. A carrier is usually healthy. The change matters only for future children.

Is it enough if only one partner is tested?

Sometimes testing starts with one. But an accurate answer about the child's risk needs both results.