Although the majority of pregnant women in developed countries receive prenatal screening tests/diagnosis, testing rates have been very low in Japan â€“ 3% in 2008 compared with 98% in 2007 in Australia (Sasaki et al. 2011). A trend to delayed childbearing has coincided with increasing concern among pregnant women in Japan about the potential risks to their babies. To investigate adequacy of providing opportunities to know babies' risks, this mixed methods study explores the experiences related to prenatal diagnosis of mothers of children with disabilities in Japan. From January to March 2016, 2,311 self-administrated questionnaires and recruitment information interview forms were distributed to mothers of children with disabilities through parents' associations; 1,133 responses were obtained (49%). Mothers of children aged under 20 years (n = 1012) were selected for the quantitative study, of whom 14 were also selected for one-to-one interviews. In the quantitative study, a total of 11.8% of mothers received prenatal diagnosis, and 79.8% of them delivered children with disabilities despite receiving negative results. They included 9 children with Down syndrome, and 7 of their mothers had not been recommended to receive definite diagnosis (amniocentesis). In the qualitative study, some of the mothers reported that their request for prenatal diagnosis were â€œrefusedâ€ and â€œdisparagedâ€ by doctors. Opportunities for prenatal screening tests/diagnoses of their babies were limited for these women. A more woman-centered approach, based on the woman's desire to be informed regarding this, is required. Key messages 1. Only 11.8% mothers of children with disabilities received prenatal diagnosis and 79.8% of them received negative results. 2. Doctors do not actively recommend prenatal/definite diagnosis in Japan. 3. Mothers' preferences for prenatal diagnosis were sometimes ignored, and a more woman-centered approach is needed.