Fetal aneuploidy screening with cell-free DNA in late gestation

Patricia A. Taneja, Tracy L. Prosen, Eileen de Feo, Kristina M. Kruglyak, Meredith Halks-Miller, Kirsten J. Curnow, Sucheta Bhatt

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Objective: The aim of this study was to evaluate clinical use of NIPT at gestational ages of 23 weeks and above. Methods: A cohort of 5579 clinical patients with singleton gestations of 23 weeks or greater submitting a blood sample for NIPT in an 18-month period were selected for this study. Clinical outcomes were requested for samples with NIPT results indicating fetal aneuploidy and compared with NIPT findings to confirm concordance or discordance. Results: A review of clinical indications revealed that a significantly (p < 0.0001) larger proportion of late-gestation samples indicated abnormal ultrasound findings with or without other indications, 6.2% and 42.1%, compared with early-gestation samples, 1.8% and 6.0%, respectively. Of 5372 reported late-gestation samples, 151 (2.8%) were reported as aneuploidy detected or suspected. In late-gestation samples, the overall observed positive predictive value (PPV) for NIPT was 64.7%, with an observed PPV of 100% in the subset of cases with multiple clinical indications including abnormal ultrasound findings. Conclusions: NIPT is a highly accurate prenatal screening option for women after 23 weeks of gestation. Women who presented for NIPT in the latter stages of pregnancy more frequently specified clinical indications of abnormal ultrasound findings than women who entered screening earlier in pregnancy.

Original languageEnglish (US)
Pages (from-to)338-342
Number of pages5
JournalJournal of Maternal-Fetal and Neonatal Medicine
Issue number3
StatePublished - Feb 1 2017

Bibliographical note

Publisher Copyright:
© 2016 Illumina. Publish by Informa UK Limited, trading as Taylor & Francis Group.


  • Chromosomal abnormalities
  • NIPT
  • positive predictive value
  • prenatal screening
  • third trimester


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