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Genetic Testing During 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.

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.

  •  Choices for testing

Some labs offer tests that screen for >250 diseases. It is also possible to order tests for just one condition if the parents know about a genetic disease in the family.

 

  •  Not all conditions

The tests don’t include all conditions and can’t find all the DNA causes for the diseases on the test. Therefore, knowing the health of your family can still be important. 

 

  •  Choices in pregnancy

Many genetic diseases cannot be treated. Parents can choose, however, to test their pregnancies, or to consider in vitro fertilization (IVF) to test embryos.

 

  •  Costs

Many health plans will cover carrier testing during pregnancy. Check your own policy for what your health plan offers. Several laboratories also offer carrier testing for a cash price of $250 for the woman and $100 for her partner.

Non-invasive Prenatal Screening (NIPS or NIPT)

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

  •  Chromosome problems

Many, but not all, chromosomal conditions cause severe learning problems, birth defects, miscarriage, or stillbirth.

 

  •  Limits of testing

NIPT does not screen for all genetic or inherited conditions.

 

  •  Screening, not diagnosis

If a screening test finds a higher chance for genetic problems, it does not mean the child definitely has a problem. Prenatal diagnosis would be needed to be certain.

 

  •  Costs

Most insurance companies will cover NIPT screening, at least for higher risk women. Check your own policy for details.

Ultrasound Screening

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

  •  Examples

Couples with a family history of heart defects, for example, might need some special ultrasound exams.

 

  •  Limits of ultrasound

Not all physical birth defects can be seen on an ultrasound.  Other factors, like the position of the baby at the time of the exam, could limit the view of the baby.

 

  •  Costs

Most insurance companies will cover ultrasound exams during pregnancy. 

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. 

  •  Types of conditions

Standard testing looks for chromosomal problems. Testing for single-gene conditions, if known to be in the family, can also sometimes be ordered.

 

  •  Limits of testing

Not all inherited conditions or birth defects can be found during pregnancy. Not all genes are studied.

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  •  Options in pregnancy

Prenatal diagnosis may change where a woman delivers and allow time to prepare. Other couples may also choose to end pregnancies based on this information. Rarely, treatments are available while in the womb.

 

  •  Risks

Amniocentesis or CVS require a sample from the fetus for testing. Getting the sample creates a small chance for a miscarriage.

 

  •  Costs

Most insurance plans cover prenatal diagnosis if there is a reason to offer it. Check your own policy for details.

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