Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT

Nobuhiro Suzumori, Akihiko Sekizawa, Eri Takeda, Osamu Samura, Aiko Sasaki, Rina Akaishi, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Hiroko Kuriki, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Takahiro Yamashita, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Tomohiro Tanemoto & 36 others Akimune Fukushima, Kazufumi Haino, Shinya Tairaku, Keiichi Matsubara, Kazutoshi Maeda, Takashi Kaji, Masanobu Ogawa, Hisao Osada, Haruki Nishizawa, Yoko Okamoto, Takeshi Kanagawa, Aiko Kakigano, Masayuki Endo, Michihiro Kitagawa, Masaki Ogawa, Shunichiro Izumi, Yukiko Katagiri, Naoki Takeshita, Yasuyo Kasai, Katsuhiko Naruse, Reiko Neki, Hisashi Masuyama, Maki Hyodo, Yukie Kawano, Takashi Ohba, Kiyotake Ichizuka, Takeshi Nagamatsu, Atsushi Watanabe, Naomi Nishikawa, Naoki Hamajima, Nahoko Shirato, Junko Yotsumoto, Miyuki Nishiyama, Keiko Koide, Tatsuko Hirose, Haruhiko Sago

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)100-106
Number of pages7
JournalPrenatal Diagnosis
Volume39
Issue number2
DOIs
Publication statusPublished - 01-01-2019

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High-Throughput Nucleotide Sequencing
DNA
Mothers
Pregnant Women
Heparin
Cohort Studies
Anxiety
Retrospective Studies
Pregnancy
Injections
Neoplasms
Therapeutics

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology
  • Genetics(clinical)

Cite this

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. / Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT. In: Prenatal Diagnosis. 2019 ; Vol. 39, No. 2. pp. 100-106.
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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.",
author = "Nobuhiro Suzumori and Akihiko Sekizawa and Eri Takeda and Osamu Samura and Aiko Sasaki and Rina Akaishi and Seiji Wada and Haruka Hamanoue and Fumiki Hirahara and Hiroko Kuriki and Hideaki Sawai and Hiroaki Nakamura and Takahiro Yamada and Kiyonori Miura and Hideaki Masuzaki and Takahiro Yamashita and Yoshimasa Kamei and Akira Namba and Jun Murotsuki and Tomohiro Tanemoto and Akimune Fukushima and Kazufumi Haino and Shinya Tairaku and Keiichi Matsubara and Kazutoshi Maeda and Takashi Kaji and Masanobu Ogawa and Hisao Osada and Haruki Nishizawa and Yoko Okamoto and Takeshi Kanagawa and Aiko Kakigano and Masayuki Endo and Michihiro Kitagawa and Masaki Ogawa and Shunichiro Izumi and Yukiko Katagiri and Naoki Takeshita and Yasuyo Kasai and Katsuhiko Naruse and Reiko Neki and Hisashi Masuyama and Maki Hyodo and Yukie Kawano and Takashi Ohba and Kiyotake Ichizuka and Takeshi Nagamatsu and Atsushi Watanabe and Naomi Nishikawa and Naoki Hamajima and Nahoko Shirato and Junko Yotsumoto and Miyuki Nishiyama and Keiko Koide and Tatsuko Hirose and Haruhiko Sago",
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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 & Sago, H 2019, 'Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT', Prenatal Diagnosis, vol. 39, no. 2, pp. 100-106. https://doi.org/10.1002/pd.5408

Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT. / 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.

In: Prenatal Diagnosis, Vol. 39, No. 2, 01.01.2019, p. 100-106.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT

AU - Suzumori, Nobuhiro

AU - Sekizawa, Akihiko

AU - Takeda, Eri

AU - Samura, Osamu

AU - Sasaki, Aiko

AU - Akaishi, Rina

AU - Wada, Seiji

AU - Hamanoue, Haruka

AU - Hirahara, Fumiki

AU - Kuriki, Hiroko

AU - Sawai, Hideaki

AU - Nakamura, Hiroaki

AU - Yamada, Takahiro

AU - Miura, Kiyonori

AU - Masuzaki, Hideaki

AU - Yamashita, Takahiro

AU - Kamei, Yoshimasa

AU - Namba, Akira

AU - Murotsuki, Jun

AU - Tanemoto, Tomohiro

AU - Fukushima, Akimune

AU - Haino, Kazufumi

AU - Tairaku, Shinya

AU - Matsubara, Keiichi

AU - Maeda, Kazutoshi

AU - Kaji, Takashi

AU - Ogawa, Masanobu

AU - Osada, Hisao

AU - Nishizawa, Haruki

AU - Okamoto, Yoko

AU - Kanagawa, Takeshi

AU - Kakigano, Aiko

AU - Endo, Masayuki

AU - Kitagawa, Michihiro

AU - Ogawa, Masaki

AU - Izumi, Shunichiro

AU - Katagiri, Yukiko

AU - Takeshita, Naoki

AU - Kasai, Yasuyo

AU - Naruse, Katsuhiko

AU - Neki, Reiko

AU - Masuyama, Hisashi

AU - Hyodo, Maki

AU - Kawano, Yukie

AU - Ohba, Takashi

AU - Ichizuka, Kiyotake

AU - Nagamatsu, Takeshi

AU - Watanabe, Atsushi

AU - Nishikawa, Naomi

AU - Hamajima, Naoki

AU - Shirato, Nahoko

AU - Yotsumoto, Junko

AU - Nishiyama, Miyuki

AU - Koide, Keiko

AU - Hirose, Tatsuko

AU - Sago, Haruhiko

PY - 2019/1/1

Y1 - 2019/1/1

N2 - 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.

AB - 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.

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U2 - 10.1002/pd.5408

DO - 10.1002/pd.5408

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VL - 39

SP - 100

EP - 106

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

IS - 2

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