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<p>Comprehensive prenatal genetic testing expands the range of conditions that can be diagnosed before birth. However, its appropriate use requires a high genetic literacy level. This study aimed to identify challenges associated with the clinical implementation of comprehensive prenatal genetic testing in Japan through a survey of obstetricians and gynecologists. A total of 663 obstetricians and gynecologists (response rate: 34.6%) affiliated with facilities providing intrapartum care nationwide participated. The mean duration of clinical experience was 26.9 years, and 85% had experience performing prenatal genetic testing. Regarding diagnostic testing using chromosomal microarray analysis or whole-exome sequencing, 5% responded that it was “already implemented,” whereas 47% responded that they were “unsure whether implementation should be considered.” For non-invasive prenatal testing targeting conditions beyond trisomies 21, 18, and 13, 63% were “positive about implementation.” Clinical geneticists or obstetricians and gynecologists certified in perinatal genetics were significantly more likely to cite restricting testing at non-certified institutions as a reason for supporting implementation (<i>p</i> &lt; 0.01). Few obstetricians and gynecologists certified in perinatal genetics cited “to avoid unnecessary invasive diagnostic testing” (<i>p</i> = 0.02) and “to improve the child’s prognosis” (<i>p</i> &lt; 0.01). Therefore, obstetricians and gynecologists certified in perinatal genetics were more likely to cite social issues, such as the presence of non-certified facilities, whereas fewer cited avoiding invasive diagnostic testing or improving child outcomes. As comprehensive prenatal testing is implemented, further investigation into the factors underlying these perceptions, together with ongoing education and awareness initiatives regarding the benefits and values of prenatal genetic testing, including NIPT, will be important.</p>

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A nationwide survey on attitudes of obstetricians and gynecologists toward comprehensive prenatal genetic testing in Japan

  • 期刊论文

  • 发表日期：

    2026年7月28日

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  • Yuka Shibata,
  • Takahiro Yamada,
  • Nahoko Shirato,
  • Akihiko Sekizawa,
  • Aiko Sasaki,
  • Kenichiro Hata,
  • Yuko Masuzawa,
  • Toshiyuki Yamamoto,
  • Hiroshi Yoshihashi,
  • Kanako Koike Fukushima,
  • Hideaki Masuzaki,
  • Kenjiro Kosaki,
  • Shiro Tanaka,
  • Ikuo Konishi,
  • Shigehito Yamada,
  • Masakazu Nishigaki,
  • Hidehiko Miyake

摘要

Comprehensive prenatal genetic testing expands the range of conditions that can be diagnosed before birth. However, its appropriate use requires a high genetic literacy level. This study aimed to identify challenges associated with the clinical implementation of comprehensive prenatal genetic testing in Japan through a survey of obstetricians and gynecologists. A total of 663 obstetricians and gynecologists (response rate: 34.6%) affiliated with facilities providing intrapartum care nationwide participated. The mean duration of clinical experience was 26.9 years, and 85% had experience performing prenatal genetic testing. Regarding diagnostic testing using chromosomal microarray analysis or whole-exome sequencing, 5% responded that it was “already implemented,” whereas 47% responded that they were “unsure whether implementation should be considered.” For non-invasive prenatal testing targeting conditions beyond trisomies 21, 18, and 13, 63% were “positive about implementation.” Clinical geneticists or obstetricians and gynecologists certified in perinatal genetics were significantly more likely to cite restricting testing at non-certified institutions as a reason for supporting implementation (p < 0.01). Few obstetricians and gynecologists certified in perinatal genetics cited “to avoid unnecessary invasive diagnostic testing” (p = 0.02) and “to improve the child’s prognosis” (p < 0.01). Therefore, obstetricians and gynecologists certified in perinatal genetics were more likely to cite social issues, such as the presence of non-certified facilities, whereas fewer cited avoiding invasive diagnostic testing or improving child outcomes. As comprehensive prenatal testing is implemented, further investigation into the factors underlying these perceptions, together with ongoing education and awareness initiatives regarding the benefits and values of prenatal genetic testing, including NIPT, will be important.