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Genetic Testing for Pregnancy

The amount of testing available before and during pregnancy can be confusing and overwhelming. The list below shows both the goals and drawbacks of different types of tests. Family history is still the best first step to create a personalized screening plan, but some options below may make sense even with no known health problems in the family.


Carrier Testing for Childhood Conditions

In certain types of inherited conditions, each parent may have a non-working copy of a gene. The parents are called carriers because they are healthy, but if a child gets a non-working copy of the gene from each parent, the child will have the condition.

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Conditions That Affect Adults

Some inherited conditions are serious but don’t cause symptoms until adulthood. Examples are certain inherited cancers, like those caused by the genes BRCA1 and BRCA2, or certain inherited heart conditions that can cause severe symptoms or even death at very young ages.  

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Embryo Screening

When a couple has chosen IVF, some centers offer to test the embryos for some common genetic problems. These are mostly extra or missing copies of chromosomes, which are the packages of DNA found inside cells and are the blueprint for how a baby develops. 

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Embryo Diagnosis

When a couple has a family history of an inherited condition and has chosen IVF, sometimes the embryos can be tested for that particular condition. If there are embryos without the condition, the couple may choose to only implant those embryos.

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*For couples with a known risk to have a child with a serious inherited disorder, IVF may be an option even if the couple does not have infertility. 


Non-invasive Prenatal Screening (NIPS or NIPT)

During pregnancy, some screening is available for certain genetic conditions, such as chromosomal problems. As stated above, chromosomal conditions cause problems with development, such as learning impairment or physical birth defects, or may lead to miscarriage or stillbirth. 

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Ultrasound Screening

Some physical birth defects cannot be diagnosed by looking at DNA but can be found by an ultrasound done by a specialist in fetal anatomy.  

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Prenatal Diagnosis

Special procedures called amniocentesis or chorionic villus sampling (CVS) can diagnose genetic problems in a fetus during the first or second trimester of pregnancy. 

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Most babies are healthy! Reading about all these options can make even the calmest would-be parents get nervous. All couples have at least a 3-5% chance for some type of birth defect even if they have all the tests available, and yet we know that most kids are happy and healthy.