1. Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT.
- Author
-
Suzumori N, Sekizawa A, Takeda E, Samura O, Sasaki A, Akaishi R, Wada S, Hamanoue H, Hirahara F, Kuriki H, Sawai H, Nakamura H, Yamada T, Miura K, Masuzaki H, Yamashita T, Kamei Y, Namba A, Murotsuki J, Tanemoto T, Fukushima A, Haino K, Tairaku S, Matsubara K, Maeda K, Kaji T, Ogawa M, Osada H, Nishizawa H, Okamoto Y, Kanagawa T, Kakigano A, Endo M, Kitagawa M, Ogawa M, Izumi S, Katagiri Y, Takeshita N, Kasai Y, Naruse K, Neki R, Masuyama H, Hyodo M, Kawano Y, Ohba T, Ichizuka K, Nagamatsu T, Watanabe A, Nishikawa N, Hamajima N, Shirato N, Yotsumoto J, Nishiyama M, Koide K, Hirose T, and Sago H
- Subjects
- Adult, False Negative Reactions, Female, Humans, Predictive Value of Tests, Pregnancy, Pregnancy Trimester, First blood, Pregnancy Trimester, First genetics, Pregnancy Trimester, Second blood, Pregnancy Trimester, Second genetics, Reproducibility of Results, Retrospective Studies, Risk Factors, Trisomy genetics, Genetic Testing methods, High-Throughput Nucleotide Sequencing methods, High-Throughput Nucleotide Sequencing standards, High-Throughput Nucleotide Sequencing statistics & numerical data, Prenatal Diagnosis methods, Research Design standards, Research Design statistics & numerical data, Trisomy diagnosis
- Abstract
Objective: To 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., Methods: A 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., Results: Overall, 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., Conclusions: The classification of nonreportable results using cfDNA analysis is important to provide women with precise information and to reduce anxiety during pregnancy., (© 2018 John Wiley & Sons, Ltd.)
- Published
- 2019
- Full Text
- View/download PDF