
doi: 10.1002/pd.5408
pmid: 30586157
AbstractObjectiveTo evaluate the reasons for nonreportable cell‐free DNA (cfDNA) results in noninvasive prenatal testing (NIPT), we retrospectively studied maternal characteristics and other details associated with the results.MethodsA multicenter retrospective cohort study in pregnant women undergoing NIPT by massively parallel sequencing (MPS) with failed cfDNA tests was performed between April 2013 and March 2017. The women's data and MPS results were analyzed in terms of maternal characteristics, test performance, fetal fraction (FF), z scores, anticoagulation therapy, and other details of the nonreportable cases.ResultsOverall, 110 (0.32%) of 34 626 pregnant women had nonreportable cfDNA test results after an initial blood sampling; 22 (20.0%) cases had a low FF (<4%), and 18 (16.4%) cases including those with a maternal malignancy, were found to have altered genomic profile. Approximately half of the cases with nonreportable results had borderline z score. Among the women with nonreportable results because of altered genomic profile, the success rate of retesting using a second blood sampling was relatively low (25.0%‐33.3%). Thirteen (11.8%) of the women with nonreportable results had required hypodermic heparin injection.ConclusionsThe classification of nonreportable results using cfDNA analysis is important to provide women with precise information and to reduce anxiety during pregnancy.
Adult, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Trisomy, Pregnancy Trimester, First, Predictive Value of Tests, Pregnancy, Research Design, Risk Factors, Pregnancy Trimester, Second, Prenatal Diagnosis, Humans, Female, Genetic Testing, False Negative Reactions, Retrospective Studies
Adult, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Trisomy, Pregnancy Trimester, First, Predictive Value of Tests, Pregnancy, Research Design, Risk Factors, Pregnancy Trimester, Second, Prenatal Diagnosis, Humans, Female, Genetic Testing, False Negative Reactions, Retrospective Studies
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