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Genetic Testing for Pregnancy

The amount of testing available before and during pregnancy can be confusing and overwhelming. Family history is still the best first step, but some testing may make sense even with no known health problems in the family.

BEFORE PREGNANCY

Carrier Testing for Childhood Conditions

Sometimes mom and dad are healthy, but each passes a non-working gene to their child to cause a genetic disease. The parents are called carriers because they are healthy, but have one working and one non-working copy of the gene. Parents won’t know they are carriers without special DNA testing.

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Conditions That Affect Adults

Some genetic diseases show up for the first time in adults. 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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DURING IVF*

 

Embryo Screening

Some IVF centers test 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. 

DURING PREGNANCY

Carrier Testing for Childhood Conditions

Non-invasive Prenatal Screening (NIPS or NIPT)

During pregnancy, some screening is available for certain genetic diseases, such as chromosomal problems. 

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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.  

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Prenatal Diagnosis

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

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Remember:

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.