Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT. (10th January 2019)

• Record Type: Journal Article
• Authors: Suzumori, Nobuhiro; Sekizawa, Akihiko; Takeda, Eri; Samura, Osamu; Sasaki, Aiko; Akaishi, Rina; Wada, Seiji; Hamanoue, Haruka; Hirahara, Fumiki; Kuriki, Hiroko; Sawai, Hideaki; Nakamura, Hiroaki; Yamada, Takahiro; Miura, Kiyonori; Masuzaki, Hideaki; Yamashita, Takahiro; Kamei, Yoshimasa; Namba, Akira; Murotsuki, Jun; Tanemoto, Tomohiro; Fukushima, Akimune; Haino, Kazufumi; Tairaku, Shinya; Matsubara, Keiichi; Maeda, Kazutoshi; Kaji, Takashi; Ogawa, Masanobu; Osada, Hisao; Nishizawa, Haruki; Okamoto, Yoko; Kanagawa, Takeshi; Kakigano, Aiko; Endo, Masayuki; Kitagawa, Michihiro; Ogawa, Masaki; Izumi, Shunichiro; Katagiri, Yukiko; Takeshita, Naoki; Kasai, Yasuyo; Naruse, Katsuhiko; Neki, Reiko; Masuyama, Hisashi; Hyodo, Maki; Kawano, Yukie; Ohba, Takashi; Ichizuka, Kiyotake; Nagamatsu, Takeshi; Watanabe, Atsushi; Nishikawa, Naomi; Hamajima, Naoki; Shirato, Nahoko; Yotsumoto, Junko; Nishiyama, Miyuki; Koide, Keiko; Hirose, Tatsuko; Sago, Haruhiko;
• Is Part Of: Prenatal diagnosis. Volume 39:Number 2(2019)
• Page Start: 100
• Page End: 106
• Publication Date: 2019-01-10
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5408
• Languages: English
• ISSNs: 0197-3851

Abstract

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. Abstract : What is already known about this topic? The main reasons why NIPT results are nonreportable are a low FF of cfDNA, a high maternal weight, multiple gestation, vanishing twin, placental or fetal mosaicism, cancer, uterine fibroids, or maternal medical treatment. What does this study add? Success rate of retest by second blood sampling was low in women with altered genomic profile. Positive predictive value of retest by second blood sampling was low, and approximately 10% women of initial nonreportable results had received heparin administration. The classification of nonreportable results using cfDNA analysis could provide useful information for retest.