Use of Commercial Tests for Aneuploidy Screening Using Cell-Free Fetal DNA in Clinical Practice

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INTRODUCTION: The objective of this study was to characterize the use of the new commercial tests for aneuploidy screening using cell-free fetal DNA by women at high risk for fetal aneuploidy.

METHODS: Retrospective cohort study of women undergoing cell-free fetal DNA testing in the first 6 months the tests were offered in our maternal-fetal medicine practice. All patients were high risk for fetal aneuploidy: advanced maternal age, abnormal aneuploidy screening, abnormal ultrasound findings, personal or family history, or all of these. Medical records were reviewed for patient demographics, indication for testing, pregnancy outcomes, and insurance information.

RESULTS: One hundred forty-two patients underwent cell-free fetal DNA testing from January 1, 2012 to June 30, 2012. Mean maternal age was 32.3±6.5 years. Most patients were white (72%), non-Hispanic (83%), multiparous (64%), married (58%), had a private obstetrician (77%), had private insurance (52%), and were singleton gestations (95%). Median gestational age when the test was performed was 18 5/7 weeks. Four patients had positive test results (3%) and three had uninformative results (2%). There was one false-negative and no false-positive results. Sensitivity, specificity, positive predictive value, and negative predictive value were 80%, 100%, 100%, and 99%, respectively.

CONCLUSION: Our study provides some information on the use of new commercial tests for aneuploidy screening using cell-free fetal DNA in clinical practice in a nonresearch setting. Although the potential for these tests to provide women with information regarding their pregnancies without the risk of invasive testing is exciting, additional studies are needed to validate their performance in both low- and high-risk populations, and health care providers and patients need to be aware of their limitations.




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Medical Specialties | Medicine and Health Sciences | Obstetrics and Gynecology | Physical Sciences and Mathematics | Statistics and Probability




Department of Obstetrics and Gynecology, Department of Obstetrics and Gynecology Faculty, Department of Obstetrics and Gynecology Residents

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