Genetic carrier screening is testing that looks at your genes to determine whether you are a carrier of certain genetic disorders. A positive result tells you with greater than 99% certainty that you are a carrier of a specific genetic disorder, and you could be at risk of having an affected child.

Cystic fibrosis (CF) is the most common fatal genetic disorder in North America. It causes the body to produce very thick mucus that can damage internal organs. It clogs the lungs—leading to life-threatening infections—and can cause digestive problems, poor growth and infertility. Symptoms range from mild to severe, but do not affect intelligence. On average, CF patients live into their late thirties. About one in every 3,500 babies born in the U.S. has cystic fibrosis.

Spinal muscular atrophy (SMA) is the most common inherited cause of infant death. It affects a person’s ability to control their muscles, including those involved in breathing, eating, crawling and walking. SMA has different levels of severity, none of which affects intelligence. However, the most common form of the disorder causes death by age two. About one in every 6,000 to 1 in every 10,000 babies born in the US has SMA.

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Symptoms cover a wide range, from mild to very severe. About one-third of all people with FXS also have autism. Individuals with the disorder may also have behavioral issues, such as hyperactivity, social anxiety and aggression. Carriers may also be at risk for fragile X-associated primary ovarian insufficiency or an adult-onset syndrome called fragile X-associated tremor/ataxia syndrome. Though FXS occurs in both sexes, males are more frequently affected than females, and generally with greater severity. Approximately one in every 3,600 boys and 1 in every 6,000 girls is born with FXS.

No test can detect 100% of genetic carriers. Even if your test results are negative, it is still possible that you could be a carrier of the genetic disorder, but the chance is small. The decision to accept or decline genetic carrier screening is completely yours.

Verifi Fetal Chromosome testing by Progenity is used to detect whether your pregnancy has a chromosomal abnormality such as too many or too few copies (this is called an “aneuploidy”) of certain chromosomes (e.g., chromosomes 21, 18, 13 as well as the sex chromosomes, X and Y). It can also test for trisomies (too many copies) of chromosomes 9 and 16, as well as microdeletions of the following chromosomes: 22q11, 15q11, 1p36, 4p-, and 5p-.

This test is intended to be performed during the 10th week of pregnancy, as estimated by last menstrual period (8 weeks from conception), or any time after that. This test analyzes the DNA (genetic material) in your blood to determine whether a chromosomal abnormality is present.

Depending upon what your healthcare provider orders, the test results may include the sex of the fetus. If you do not wish to know the sex, please indicate your desires in the consent below. Depending upon the test ordered, in certain circumstances you may not be able to prevent learning the sex of the fetus. Test results usually take two weeks; you will be notified via the patient portal.

Like all tests, this test has limitations. It can only detect the specific chromosomal abnormalities tested. Normal test results do not eliminate the possibility that your pregnancy may have other chromosomal abnormalities, birth defects, or other conditions, such as open neural tube defects. A normal result does not guarantee a healthy pregnancy or baby.

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