Literature DB >> 27279110

Four-year experience with prenatal diagnosis of congenital heart defects at a single referral center in Japan with focus on inaccurately diagnosed cases.

Yukako Yoshikane1, Toshiyuki Yoshizato2, Yoshiko Otake3, Naoki Fusazaki4, Hirotsugu Obama3, Shingo Miyamoto3, Shinichi Hirose1.   

Abstract

PURPOSE: To evaluate the accuracy of prenatal diagnosis of congenital heart defect at the referral level in our institution.
METHODS: One hundred and thirty-two cases were referred for prenatal diagnosis of congenital heart defect (CHD). Cases having CHDs were divided into isolated and complex CHDs, and the prenatal and postnatal diagnoses were compared.
RESULTS: Thirty-nine cases were diagnosed with CHDs. The remaining 93 cases were diagnosed as normal. Postnatal diagnosis confirmed that 39 cases had CHDs; there were 19 cases of isolated CHD and 20 cases of complex CHD. Among the 19 cases of isolated CHD, all four cases with a false negative diagnosis had ventricular septal defects of an outlet or muscular type with a small defect. Cases with a false positive diagnosis had coarctation of the aorta (3 cases) or total anomalous pulmonary venous connection (1 case). Among the 20 cases of complex CHD, the prenatal diagnoses in two cases were not the same as the postnatal diagnosis and the prognosis was worse than expected. In one case with a single ventricle, pulmonary stenosis, and pulmonary venous atresia, the prenatal diagnosis was hypoplastic left heart syndrome with a suboptimal study at 38 weeks' gestation. In the other case, the diagnosis of corrected transposition of the great arteries had been missed because of misinterpretation of the anatomically right and left ventricles in utero.
CONCLUSIONS: There were three possible causes of misdiagnosis or overdiagnosis of CHD: disease orientation, timing of diagnosis, and skill of the examiners. This information may be helpful for the improvement of diagnosis.

Entities:  

Keywords:  Congenital heart defect; Misdiagnosis; Prenatal diagnosis; Ultrasonography

Year:  2012        PMID: 27279110     DOI: 10.1007/s10396-012-0362-y

Source DB:  PubMed          Journal:  J Med Ultrason (2001)        ISSN: 1346-4523            Impact factor:   1.314


  20 in total

1.  Physiology of ventricular septal defect shunt flow in the fetus examined by color Doppler M-mode.

Authors:  J P Lethor; F Marçon; M de Moor; M E King
Journal:  Circulation       Date:  2000-03-14       Impact factor: 29.690

2.  Lethal malformations and perinatal mortality: a 10 year review with comparison of ethnic differences.

Authors:  I D Young; M Clarke
Journal:  Br Med J (Clin Res Ed)       Date:  1987-07-11

Review 3.  Incidence of congenital heart disease: II. Prenatal incidence.

Authors:  J I Hoffman
Journal:  Pediatr Cardiol       Date:  1995 Jul-Aug       Impact factor: 1.655

4.  Delayed diagnosis of congenital heart disease worsens preoperative condition and outcome of surgery in neonates.

Authors:  K L Brown; D A Ridout; A Hoskote; L Verhulst; M Ricci; C Bull
Journal:  Heart       Date:  2006-01-31       Impact factor: 5.994

Review 5.  Prenatal diagnosis of congenital heart disease.

Authors:  U Gembruch
Journal:  Prenat Diagn       Date:  1997-12       Impact factor: 3.050

6.  Coarctation of the aorta: difficulties in prenatal diagnosis.

Authors:  G K Sharland; K Y Chan; L D Allan
Journal:  Br Heart J       Date:  1994-01

7.  Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations.

Authors:  C Wren; Z Reinhardt; K Khawaja
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2007-06-07       Impact factor: 5.747

8.  Clinical implication of isolated right dominant heart in the fetus.

Authors:  Eui Jung; Hye-Sung Won; Pil Ryang Lee; Ahm Kim; In-Sook Park
Journal:  Prenat Diagn       Date:  2007-08       Impact factor: 3.050

9.  Ultrasound screening and perinatal mortality: controlled trial of systematic one-stage screening in pregnancy. The Helsinki Ultrasound Trial.

Authors:  A Saari-Kemppainen; O Karjalainen; P Ylöstalo; O P Heinonen
Journal:  Lancet       Date:  1990-08-18       Impact factor: 79.321

10.  Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study.

Authors:  C Ferencz; J D Rubin; R J McCarter; J I Brenner; C A Neill; L W Perry; S I Hepner; J W Downing
Journal:  Am J Epidemiol       Date:  1985-01       Impact factor: 4.897

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  1 in total

1.  Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

Authors:  Maurizia Colangelo; Melissa Alfonsi; Chiara Palka; Eleonora Zio Zio; Silvana Di Renzo; Paolo Guanciali-Franchi; Giandomenico Palka
Journal:  J Genet       Date:  2018-03       Impact factor: 1.166

  1 in total

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