Nobuhiro Suzumori1,2, Akihiko Sekizawa3, Eri Takeda1,2, Osamu Samura4, Aiko Sasaki5, Rina Akaishi5, Seiji Wada5, Haruka Hamanoue6, Fumiki Hirahara6, Hiroko Kuriki6, Hideaki Sawai7, Hiroaki Nakamura8, Takahiro Yamada9, Kiyonori Miura10, Hideaki Masuzaki10, Takahiro Yamashita11, Yoshimasa Kamei12, Akira Namba12, Jun Murotsuki13, Tomohiro Tanemoto4, Akimune Fukushima14, Kazufumi Haino15, Shinya Tairaku16, Keiichi Matsubara17, Kazutoshi Maeda18, Takashi Kaji19, Masanobu Ogawa20, Hisao Osada21, Haruki Nishizawa22, Yoko Okamoto23, Takeshi Kanagawa23, Aiko Kakigano24, Masayuki Endo24, Michihiro Kitagawa25, Masaki Ogawa26, Shunichiro Izumi27, Yukiko Katagiri28, Naoki Takeshita28, Yasuyo Kasai29, Katsuhiko Naruse30, Reiko Neki31, Hisashi Masuyama32, Maki Hyodo33, Yukie Kawano34, Takashi Ohba35, Kiyotake Ichizuka36, Takeshi Nagamatsu37, Atsushi Watanabe38, Naomi Nishikawa39, Naoki Hamajima39, Nahoko Shirato3, Junko Yotsumoto40, Miyuki Nishiyama5, Keiko Koide3, Tatsuko Hirose3, Haruhiko Sago5. 1. Department of Obstetrics and Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan. 2. Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan. 3. Department of Obstetrics and Gynecology, Showa University School of Medicine, Tokyo, Japan. 4. Department of Obstetrics and Gynecology, Jikei University School of Medicine, Tokyo, Japan. 5. Division of Fetal Medicine, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan. 6. Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan. 7. Department of Obstetrics and Gynecology, Hyogo College of Medicine, Nishinomiya, Japan. 8. Department of Obstetrics, Osaka City General Hospital, Osaka, Japan. 9. Clinical Genetics Unit, Kyoto University Hospital, Kyoto, Japan. 10. Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. 11. Department of Obstetrics and Gynecology, Maternal and Child Health Center, Aiiku Hospital, Tokyo, Japan. 12. Departments of Obstetrics and Gynecology, Saitama Medical University School of Medicine, Saitama, Japan. 13. Department of Maternal and Fetal Medicine, Tohoku University Graduate School of Medicine, Miyagi Children's Hospital, Sendai, Japan. 14. Department of Clinical Genetics, School of Medicine, Iwate Medical University, Morioka, Japan. 15. Department of Obstetrics and Gynecology, Niigata University Medical and Dental Hospital, Niigata, Japan. 16. Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, Kobe, Japan. 17. Department of Obstetrics and Gynecology, Ehime University School of Medicine, Matsuyama, Japan. 18. Department of Obstetrics and Gynecology, Shikoku Medical Center for Children and Adults, Kagawa, Japan. 19. Department of Obstetrics and Gynecology, The University of Tokushima Faculty of Medicine, Tokushima, Japan. 20. Department of Obstetrics and Gynecology, Clinical Research Institute, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan. 21. Department of Gynecology, Chiba University Graduate School of Medicine, Chiba, Japan. 22. Department of Obstetrics and Gynecology, Fujita Health University, Aichi, Japan. 23. Department of Obstetrics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. 24. Department of Obstetrics and Gynecology, Osaka University Graduate School of Medicine, Osaka, Japan. 25. Department of Obstetrics and Gynecology, Sanno Hospital, Tokyo, Japan. 26. Division of Obstetrics, Perinatal Medical Center, Tokyo Women's Medical University Hospital, Tokyo, Japan. 27. Department of Obstetrics and Gynecology, Tokai University School of Medicine, Kanagawa, Japan. 28. Department of Obstetrics and Gynecology, School of Medicine, Faculty of Medicine, Toho University, Tokyo, Japan. 29. Department of Obstetrics and Gynecology, Japanese Red Cross Medical Center, Tokyo, Japan. 30. Department of Obstetrics and Gynecology, Nara Medical University, Nara, Japan. 31. Department of Perinatology and Gynecology, National Cerebral and Cardiovascular Center, Osaka, Japan. 32. Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Okayama, Japan. 33. Department of Obstetrics and Gynecology, Hiroshima University Graduate School of Medicine, Hiroshima, Japan. 34. Department of Molecular Pathology, Faculty of Medicine, Oita University, Oita, Japan. 35. Department of Obstetrics and Gynecology, Kumamoto University, Kumamoto, Japan. 36. Department of Obstetrics and Gynecology, Showa University Northern Yokohama Hospital, Yokohama, Japan. 37. Departments of Obstetrics and Gynecology, Tokyo University Hospital, Tokyo, Japan. 38. Division of Clinical Genetics, Nippon Medical School Hospital, Tokyo, Japan. 39. Division of Clinical Genetics, Nagoya City West Medical Center, Nagoya, Japan. 40. Departments of Genetic Counseling, Ochanomizu University, Tokyo, Japan.
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.
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.
Authors: Ajleeta Sangtani; Chen Wang; Amy Weaver; Nicole L Hoppman; Sarah E Kerr; Alexej Abyzov; Viji Shridhar; Julie Staub; Jean-Pierre A Kocher; Jesse S Voss; Karl C Podratz; Nicolas Wentzensen; John B Kisiel; Mark E Sherman; Jamie N Bakkum-Gamez Journal: Gynecol Oncol Date: 2019-11-28 Impact factor: 5.482
Authors: Marco La Verde; Luigia De Falco; Annalaura Torella; Giovanni Savarese; Pasquale Savarese; Raffaella Ruggiero; Anna Conte; Vera Fico; Marco Torella; Antonio Fico Journal: BMC Med Genomics Date: 2021-03-30 Impact factor: 3.063
Authors: Huiwen Che; Tatjana Jatsenko; Lore Lannoo; Kate Stanley; Luc Dehaspe; Leen Vancoillie; Nathalie Brison; Ilse Parijs; Kris Van Den Bogaert; Koenraad Devriendt; Sabien Severi; Ellen De Langhe; Severine Vermeire; Bram Verstockt; Kristel Van Calsteren; Joris Robert Vermeesch Journal: NPJ Genom Med Date: 2022-09-14 Impact factor: 6.083
Authors: Maria Hammer Moellgaard; Ida Charlotte Bay Lund; Naja Becher; Anne-Bine Skytte; Lotte Andreasen; Malgorzata Ilona Srebniak; Ida Vogel Journal: Clin Case Rep Date: 2022-10-11