Медицинская библиотека · Prenatal diagnosis · 2019

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

СтатьяМногоцентровое исследованиеПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

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.

Для цитирования: 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.. Prenatal diagnosis. 2019. DOI: 10.1002/pd.5408.

Предметные рубрики MeSH

Adult False Negative Reactions Female Genetic Testing High-Throughput Nucleotide Sequencing Humans Predictive Value of Tests Pregnancy Pregnancy Trimester, First Pregnancy Trimester, Second Prenatal Diagnosis Reproducibility of Results Research Design Retrospective Studies Risk Factors Trisomy

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