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Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

1
Cancer Genetics Department, Saint Joseph Hospital, Orange, CA 92868, USA
2
Department of Pediatrics Irvine, University of California, Orange, CA 92868, USA
3
San Diego and Rady Children's Hospital, University of California, San Diego, CA 92037, USA
4
San Diego, Fetal Care & Genetics San Diego, University of California, CA 92037, USA
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
J. Clin. Med. 2014, 3(3), 849-864; https://doi.org/10.3390/jcm3030849
Received: 4 May 2014 / Revised: 10 June 2014 / Accepted: 18 June 2014 / Published: 24 July 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 2)
Until recently, maternal serum analyte levels paired with sonographic fetal nuchal translucency measurement was the most accurate prenatal screen available for Trisomies 18 and 21, (91% and 94% detection and false positive rates of 0.31% and 4.5% respectively). Women with positive California Prenatal Screening Program (CPSP) results have the option of diagnostic testing to determine definitively if the fetus has a chromosomal abnormality. Cell-free fetal (cff-) DNA screening for Trisomies 13, 18, and 21 was first offered in 2012, allowing women with positive screens to choose additional screening before diagnostic testing. Cff-DNA sensitivity rates are as high as 99.9% and 99.1%, with false positive rates of 0.4% and 0.1%, for Trisomies 18 and 21, respectively. A retrospective chart review was performed in 2012 on 500 CPSP referrals at the University of California, San Diego Thornton Hospital. Data were collected prior to and after the introduction of cff-DNA. There was a significant increase in the number of participants who chose to pursue additional testing and a decrease in the number of invasive procedures performed after cff-DNA screening was available. We conclude that as fetal aneuploidy screening improves, the number of invasive procedures will continue to decrease. View Full-Text
Keywords: prenatal; cell-free fetal DNA screening; non-invasive prenatal testing prenatal; cell-free fetal DNA screening; non-invasive prenatal testing
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Shah, F.T.; French, K.S.; Osann, K.E.; Bocian, M.; Jones, M.C.; Korty, L. Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result. J. Clin. Med. 2014, 3, 849-864.

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