Success of Universal Carrier Screening for Fetal Diagnosis of Genetic Disease: High Expenditures, Low Yields? [19O]

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Abstract

INTRODUCTION:

The purpose of this study is to investigate the success of universal carrier screening (UCS) for identifying fetuses at risk for genetic diseases.

METHODS:

A prospectively collected database of patients referred for genetic counseling between Nov 2013–Jul 2015 and undergoing UCS was retrospectively reviewed. The primary outcome was the number of pregnancies that underwent diagnostic testing following a mother's decision to undergo UCS.

RESULTS:

A total of 929 patients underwent UCS, including 849 females (91.4%) and 80 males (8.6%). Mean patient age was 33.0 years (SD 6.31; range 16.8–44.8 years). Most patients (81.6%) did not have a family history of genetic disease. Four commercial providers were used in the study. Most women (93.7%) were screened for between 19 and 250 genetic conditions. Of 849 women who underwent UCS, 223 (26.3%) screened positive for at least one genetic condition. All 223 women were subsequently offered genetic testing of their male partners. Of these, 25 males (11%) agreed to undergo UCS, with 18 males (72%) undergoing screening for 22 or more conditions. Of the 25 males who underwent UCS, 10 (40%) received a positive result. No male/female partners screened positive for the same genetic disease, and no women subsequently underwent diagnostic testing of the fetus. Of 849 women who underwent UCS, only 1 woman (0.1%) ultimately underwent diagnostic testing of any kind.

CONCLUSION:

Using UCS on a large number of women failed to identify a single fetus at risk for a genetic trait or condition. While informative, the clinical utility of UCS remains uncertain.

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