Initial national investigation of the prenatal diagnosis of congenital heart malformations in Japan-Regional Detection Rate and Emergency Transfer from 2013 to 2017

Published:August 25, 2021DOI:


      • This is the first national survey of fetal detection for congenital heart diseases (CHDs) in Japan
      • Overall prenatal detection rate is low in Japan compared to the European countries
      • Significant regional gaps of detection rates are recognized in Japan
      • Fetal diagnosis significantly reduces risks of emergency transfer for CHDs
      • Periodic official surveillance for prenatal cardiac diagnosis is required



      Investigation into the detection rate (DR) of congenital heart diseases (CHDs) in fetuses is important for the assessment of fetal cardiac screening systems.


      We highlight issues of fetal cardiac screening in Japan.


      We performed an initial national survey of fetal diagnosis of CHDs from the data of the national registry for congenital heart surgery from 2013 to 2017. Subjects were neonates and infants with moderate or severe CHDs. We investigated DR in each prefecture in Japan and emergency transfer (ET) for neonates by analyzing distance and admission day of ET with or without fetal diagnoses.


      : The overall average DR in Japan was 0.41 (0.02 increase every year). No regional significant relationship was found between DR and population in each prefecture. ET was performed in 12% of neonates with prenatal diagnosis and in 63% of neonates without resulting in significant risk for ET in fetuses without a fetal diagnosis [OR 13.3 (11.6−15.3), p<0.001]. The distance of ET was shorter and admission was earlier in the neonates with a prenatal diagnosis than in those without [median 6.6 km (IQR: 4.1-25.7) vs 17.0 km (IQR: 7.4-35.3), median 0.0 day (IQR: 0.0-0.0) vs 0.0 day (IQR: 0.0-1.0), p<0.001, p<0.001, respectively]


      Prenatal cardiac diagnosis reduces geographic and chronological risks of ET for moderate to severe CHDs. DR is still developing and periodic official surveillance is required for improving prenatal cardiac diagnosis in Japan.

      Graphical abstract


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        • Lytzen R
        • Vejlstrup N
        • Bjerre J
        • Petersen OB
        • Leenskjold S
        • Dodd JK
        • et al.
        The accuracy of prenatal diagnosis of major congenital heart disease is increasing.
        J Obstet Gynaecol. 2020; 40: 308-315
        • Brown KL
        • Ridout DA
        • Hoskote A
        • Verhulst L
        • Ricci M
        • Bull C.
        Delayed diagnosis of congenital heart disease worsens preoperative condition and outcome of surgery in neonates.
        Heart. 2006; 92: 1298-1302
        • Blyth M
        • Howe D
        • Gnanapragasam J
        • Wellesley D.
        The hidden mortality of transposition of the great arteries and survival advantage provided by prenatal diagnosis.
        BJOG. 2008; 115: 1096-1100
        • Miyata H
        • Tomotaki A
        • Motomura N
        • Takamoto S.
        Operative mortality and complication risk model for all major cardiovascular operations in Japan.
        Ann Thorac Surg. 2015; 99: 130-139
        • Hirata Y
        • Hirahara N
        • Murakami A
        • Motomura N
        • Miyata H
        • Takamoto S.
        Current status of cardiovascular surgery in Japan 2013 and 2014: A report based on the Japan Cardiovascular Surgery Database. 2: Congenital heart surgery.
        Gen Thorac Cardiovasc Surg. 2018; 66: 4-7
        • Takamoto S
        • Motomura N
        • Miyata H
        • Tsukihara H.
        Current status of cardiovascular surgery in Japan, 2013 and 2014: A report based on the Japan Cardiovascular Surgery Database (JCVSD). 1: Mission and history of JCVSD.
        Gen Thorac Cardiovasc Surg. 2018; 66: 1-3
        • Tokuda Y
        • Yamamoto H
        • Miyata H
        • Usui A
        • Motomura N
        Japan Cardiovascular Surgery Database Organization. Contemporary outcomes of surgical aortic valve replacement in Japan.
        Circ J. 2020; 84: 277-282
        • Bull C.
        Current and potential impact of fetal diagnosis on prevalence and spectrum of serious congenital heart disease at term in the UK. British Paediatric Cardiac Association.
        Lancet. 1999; 354 (ik): 1242-1247
        • van Velzen CL
        • Clur SA
        • Rijlaarsdam ME
        • Bax CJ
        • Pajkrt E
        • Heymans MW
        • et al.
        Prenatal detection of congenital heart disease–results of a national screening programme.
        BJOG. 2016; 123: 400-407
        • Lytzen R
        • Vejlstrup N
        • Bjerre J
        • Petersen OB
        • Leenskjold S
        • Dodd JK
        • et al.
        Live-born major congenital heart disease in Denmark: Incidence, detection rate, and termination of pregnancy rate from 1996 to 2013.
        JAMA Cardiol. 2018; 3: 829-837
        • Satomi G.
        Guidelines for fetal echocardiography.
        Pediatr Int. 2015; 57: 1-21
        • Bakker MK
        • Bergman JEH
        • Krikov S
        • Amar E
        • Cocchi G
        • Cragan J
        • et al.
        Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.
        BMJ Open. 2019; 9e028139
        • Nikkila A
        • Bjorkhem G
        • Kallen B.
        Prenatal diagnosis of congenital heart defects - a population based study.
        Acta Paediatr. 2007; 96: 49-52
        • Khoshnood B
        • Lelong N
        • Houyel L
        • Bonnet D
        • Ballon M
        • Jouannic JM
        • et al.
        Impact of prenatal diagnosis on survival of newborns with four congenital heart defects: a prospective, population-based cohort study in France (the EPICARD Study).
        BMJ Open. 2017; 7e018285
        • Sun HY
        • Proudfoot JA
        • McCandless RT.
        Prenatal detection of critical cardiac outflow tract anomalies remains suboptimal despite revised obstetrical imaging guidelines.
        Congenit Heart Dis. 2018; 13: 748-756
        • Uzun O
        • Kennedy J
        • Davies C
        • Goodwin A
        • Thomas N
        • Rich D
        • et al.
        Training: improving antenatal detection and outcomes of congenital heart disease.
        BMJ Open Qual. 2018; 7e000276
        • Corcoran S
        • Briggs K
        • O'Connor H
        • Mullers S
        • Monteith C
        • Donnelly J
        • et al.
        Prenatal detection of major congenital heart disease - optimising resources to improve outcomes.
        Eur J Obstet Gynecol Reprod Biol. 2016; 203: 260-263
        • Friedberg MK
        • Silverman NH
        • Moon-Grady AJ
        • Tong E
        • Nourse J
        • Sorenson B
        • et al.
        Prenatal detection of congenital heart disease.
        J Pediatr. 2009; 155 (e1): 26-31
        • Hill GD
        • Block JR
        • Tanem JB
        • Frommelt MA.
        Disparities in the prenatal detection of critical congenital heart disease.
        Prenat Diagn. 2015; 35: 859-863
        • Levy DJ
        • Pretorius DH
        • Rothman A
        • Gonzales M
        • Rao C
        • Nunes ME
        • et al.
        Improved prenatal detection of congenital heart disease in an integrated health care system.
        Pediatr Cardiol. 2013; 34: 670-679
        • Bonnet D
        • Coltri A
        • Butera G
        • Fermont L
        • Le Bidois J
        • Kachaner J
        • et al.
        Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality.
        Circulation. 1999; 99: 916-918
        • Pinto NM
        • Nelson R
        • Puchalski M
        • Metz TD
        • Smith KJ.
        Cost-effectiveness of prenatal screening strategies for congenital heart disease.
        Ultrasound Obstet Gynecol. 2014; 44: 50-57
        • Bak GS
        • Shaffer BL
        • Madriago E
        • Allen A
        • Kelly B
        • Caughey AB
        • et al.
        Detection of fetal cardiac anomalies: cost-effectiveness of increased number of cardiac views.
        Ultrasound Obstet Gynecol. 2020; 55: 758-767
        • Holland BJ
        • Myers JA
        • Woods CR
        Prenatal diagnosis of critical congenital heart disease reduces risk of death from cardiovascular compromise prior to planned neonatal cardiac surgery: a meta-analysis.
        Ultrasound Obstet Gynecol. 2015; 45: 631-638
        • Shenoy RU
        • DiLorenzo M.
        The safety of postnatal transport of newborns prenatally diagnosed with duct-dependent congenital heart disease.
        J Matern Fetal Neonatal Med. 2016; 29: 1911-1914
        • Donofrio MT
        • Levy RJ
        • Schuette JJ
        • Skurow-Todd K
        • Sten MB
        • Stallings C
        • et al.
        Specialized delivery room planning for fetuses with critical congenital heart disease.
        Am J Cardiol. 2013; 111: 737-747
        • Jegatheeswaran A
        • Oliveira C
        • Batsos C
        • Moon-Grady AJ
        • Silverman NH
        • Hornberger LK
        • et al.
        Costs of prenatal detection of congenital heart disease.
        Am J Cardiol. 2011; 108: 1808-1814