Pediatrics international : official journal of the Japan Pediatric Society · 2026
Population-Based Study of Prenatal Detection of Critical Congenital Heart Disease in Kyu-Yama Region of Japan.
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Nagata Hazumu, Kitadai Yuzo, Hara Takuya, Shinya Mitsuhisa, Sugitani Yuichiro, Takahashi Masako, Doi Koutaro, Okada Seigo, Shimabukuro Atsuya, Doi Hirohito, Kozuma Yutaka, Hamada Tomonori, Kawamura Junpei, Nishihara Takuhiro, Teramachi Yozo, Kan Nobuhiko, Maeno Yasuki, Nishibatake Makoto
Аннотация
BACKGROUND: The prenatal detection rate (PDR) of congenital heart disease (CHD) has been scarcely reported in Japan. This study aimed to investigate PDR of critical CHD in a region of Japan and to evaluate the impact of prenatal diagnosis on postnatal mortality and severe morbidity.
MATERIALS AND METHODS: We included patients diagnosed with CHD either prenatally and postnatally between January 1st 2018 and December 31st 2020, based on the institutional database. The Kyu-Yama region comprises the seven prefectures of Kyushu island, Yamaguchi prefecture, and Okinawa prefecture. Clinical outcome was compared with prenatal versus postnatal diagnosis.
RESULTS: The overall PDR of critical CHD in the region was 64% (400 of 626 cases). Fifty-four (14%) fetuses were diagnosed within 22 weeks of gestational age. Among these cases, termination of pregnancy was selected in 5 (1%) cases. In subgroup analyses by CHD type, heterotaxy had the highest detection rate (91%), followed by hypoplastic left heart syndrome (86%). In contrast, lower detection rates were observed in transposition of the great arteries (43%) and total anomalous pulmonary venous connection (15%). Detection rates varied by prefectures, ranging from 41% to 75%. Among actively managed cases, overall, there was a significant difference in mortality and severe morbidity between prenatal and postnatal groups [66 (18%) vs. 20 (9%), p = 0.0031].
CONCLUSION: The overall PDR in this regional cohort was favorable; however, substantial differences remained across prefectures and CHD types. Reducing these disparities may require guideline-based education. Further research is warranted to clarify the prognostic impact of prenatal diagnosis.
MATERIALS AND METHODS: We included patients diagnosed with CHD either prenatally and postnatally between January 1st 2018 and December 31st 2020, based on the institutional database. The Kyu-Yama region comprises the seven prefectures of Kyushu island, Yamaguchi prefecture, and Okinawa prefecture. Clinical outcome was compared with prenatal versus postnatal diagnosis.
RESULTS: The overall PDR of critical CHD in the region was 64% (400 of 626 cases). Fifty-four (14%) fetuses were diagnosed within 22 weeks of gestational age. Among these cases, termination of pregnancy was selected in 5 (1%) cases. In subgroup analyses by CHD type, heterotaxy had the highest detection rate (91%), followed by hypoplastic left heart syndrome (86%). In contrast, lower detection rates were observed in transposition of the great arteries (43%) and total anomalous pulmonary venous connection (15%). Detection rates varied by prefectures, ranging from 41% to 75%. Among actively managed cases, overall, there was a significant difference in mortality and severe morbidity between prenatal and postnatal groups [66 (18%) vs. 20 (9%), p = 0.0031].
CONCLUSION: The overall PDR in this regional cohort was favorable; however, substantial differences remained across prefectures and CHD types. Reducing these disparities may require guideline-based education. Further research is warranted to clarify the prognostic impact of prenatal diagnosis.