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A single center's experience with noninvasive prenatal testing.

Carmen J Beamon1, Emily E Hardisty1, Sarah C Harris2

  • 1Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine; University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|March 29, 2014
PubMed
Summary
This summary is machine-generated.

Noninvasive prenatal testing (NIPT) for fetal aneuploidy showed high accuracy in high-risk pregnancies, but "unclassified" and false results were more frequent than expected. Uptake increased, while amniocentesis rates declined.

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Area of Science:

  • Genetics
  • Prenatal Diagnostics
  • Molecular Biology

Background:

  • Massively parallel sequencing enables noninvasive prenatal testing (NIPT) for fetal aneuploidy.
  • NIPT demonstrates high sensitivity and specificity for trisomies 21, 18, and 13 in high-risk groups.

Purpose of the Study:

  • To review institutional experience with noninvasive prenatal testing for aneuploidy screening.
  • Evaluate NIPT performance in a clinical setting.

Main Methods:

  • Descriptive study of 208 patients undergoing NIPT between January and September 2012.
  • Analysis of NIPT results, including sensitivity, specificity, and unclassified rates.

Main Results:

  • NIPT showed 87.5% sensitivity and 99.5% specificity for trisomies 21, 18, and 13.
  • Abnormal or unclassified results occurred in 6.3% of patients; unclassified results were 11.1%.
  • NIPT uptake increased monthly, and amniocentesis rates significantly decreased.

Conclusions:

  • NIPT adoption increased, leading to a decline in amniocentesis procedures.
  • Observed rates of unclassified, false-positive, and false-negative results exceeded preclinical trial predictions.