April 8, 2023 | Register
May 13, 2023 | Register
Carrier Screening: Why We Recommend Patients Consider It
Carrier Screening: Why We Recommend Patients Consider It

Carrier Screening: Why We Recommend Patients Consider It

Carrier screening can help prevent fatal diseases like cystic fibrosis.

The significant risk of cystic fibrosis in the general population has led to a recommendation that all women considering pregnancy should have cystic fibrosis screening. This fatal disease can be avoided by testing the mother (and father if needed).

Medical technology has now advanced so that more than a hundred uncommon disorders can be screened with the cystic fibrosis test for about the same cost. Rather than standard cystic fibrosis testing, we recommend that patients consider full carrier screening.

Carrier screening was developed by scientists at Harvard and Stanford University, and is 99.9% accurate for a large number of single-gene disorders. Although each of these is individually quite uncommon, it would be tragic in our view to miss the opportunity to screen for these diseases. We think of it as life insurance for your baby.

For infertility patients, there is a bonus series of tests which are included, including certain disorders called thrombophilias, which can affect blood supply to the pregnancy. In addition, testing is provided for two other deficiencies which could affect your long-term health.

Another layer of complexity is the additional offering of Fragile X testing. It is performed using a different diagnostic test provided as an option. This test provides insurance against the most common disease of mental retardation, Fragile X disorder.

If your ethnicity is mixed Ashkenazi-Jewish, then a specific biochemical assay may be necessary to rule out genetic disorders specific to this population. If you are of African ancestry, even in the distant past, a hemoglobin test and complete blood cell count should be performed. If you have Asian, Middle Eastern or Mediterranean ancestry, then a complete blood cell count is recommended in addition to the carrier screening test. The biochemical assay, hemoglobin electrophoresis and the complete blood count must be ordered separately.

In summary, we recommend the basic carrier screening, and we need to decide if any additional tests which are ethnicity specific need to be ordered. The Fragile X decision is separate.

If there is any family history of suspected genetic disorder, early childhood deaths, or mental retardation, then you should certainly consider carrier screening. However, one must remember that the vast majority of babies born with genetic disease have no such family history.

If you have a positive test, your spouse must be tested to make sure there is not a matching genetic defect. Most of the time, the matching would not occur, and it would be safe to have a pregnancy. It’s best if the initial tests are done well in advance of any infertility therapy to allow for spouse or partner testing.

Our office can help you order the appropriate tests. Some require a blood sample, but many can be performed with a saliva kit. Blood testing is slightly preferred, but saliva tests are also suitable. The testing results should be available within two (2) weeks.

The carrier screen companies work directly with you to help with insurance coverage. Test results come to the physician.

Share on facebook
Share on twitter
Share on linkedin

Related Articles