Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Suzumori Nobuhiro, Sekizawa Akihiko, Takeda Eri, Samura Osamu, Sasaki Aiko, Akaishi Rina, Wada Seiji, Hamanoue Haruka, Hirahara Fumiki, Sawai Hideaki, Nakamura Hiroaki, Yamada Takahiro, Miura Kiyonori, Masuzaki Hideaki, Nakayama Setsuko, Kamei Yoshimasa, Namba Akira, Murotsuki Jun, Yamaguchi Masayuki, Tairaku Shinya, Maeda Kazuhisa, Kaji Takashi, Okamoto Yoko, Endo Masayuki, Ogawa Masaki, Kasai Yasuyo, Ichizuka Kiyotake, Yamada Naoki, Ida Akinori, Miharu Norio, Kawaguchi Satoshi, Hasuo Yasuyuki, Okazaki Tetsuya, Ichikawa Mayuko, Izumi Shunichiro, Kuno Naohiko, Yotsumoto Junko, Nishiyama Miyuki, Shirato Nahoko, Hirose Tatsuko, Sago Haruhiko
Аннотация
STUDY DESIGN: A multicentre retrospective study was performed for women undergoing NIPT who received discordant cfDNA results between April 2013 and March 2018. The NIPT data obtained using massive parallel sequencing were studied in terms of maternal background, fetal fraction, z-scores, invasive procedure results and neonatal outcomes after birth.
RESULTS: Of the 56,545 women who participated in this study, 54 false-positive (0.095 %) and three false-negative (0.006 %) cases were found. Seven of the 54 false-positive cases (13.0 %) had vanishing twin on ultrasonography. Among the 18 false-positive cases of trisomy 18, confined placental mosaicism (CPM) was confirmed in three cases (16.7 %), while CPM was present in one of the three false-negative cases of trisomy 21.
CONCLUSION: These data suggest that the incidence of women with false-positive or false-negative results is relatively low, that such false results can often be explained, and that vanishing twin and CPM are potential causes of NIPT failure. Genetic counselling with regard to false results is important for clients prior to undergoing NIPT.