Korean Circulation Journal

  • 제48권3호
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  • Pages.209-216
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  • 2018
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  • 1738-5520(pISSN)
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  • 1738-5555(eISSN)
대한심장학회 (The Korean Society of Cardiology)
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Array Comparative Genomic Hybridization as the First-line Investigation for Neonates with Congenital Heart Disease: Experience in a Single Tertiary Center

  • Choi, Bo Geum (Department of Pediatrics, Kyungpook National University Children's Hospital, Kyungpook National University School of Medicine) ;
  • Hwang, Su-Kyung (Department of Pediatrics, Kyungpook National University Children's Hospital, Kyungpook National University School of Medicine) ;
  • Kwon, Jung Eun (Department of Pediatrics, Kyungpook National University Children's Hospital, Kyungpook National University School of Medicine) ;
  • Kim, Yeo Hyang (Department of Pediatrics, Kyungpook National University Children's Hospital, Kyungpook National University School of Medicine)
  • 투고 : 2017.07.28
  • 심사 : 2017.11.28
  • 발행 : 2018.03.19
⟨ 이전 논문 다음 논문 ⟩

초록

Background and Objectives: The purpose of the present study was to investigate the advantages and disadvantages of verifying genetic abnormalities using array comparative genomic hybridization (a-CGH) immediately after diagnosis of congenital heart disease (CHD). Methods: Among neonates under the age of 28 days who underwent echocardiography from January 1, 2014 to April 30, 2016, neonates whose chromosomal and genomic abnormalities were tested using a-CGH in cases of an abnormal finding on echocardiography were enrolled. Results: Of the 166 patients diagnosed with CHD, 81 underwent a-CGH and 11 patients (11/81, 13.5%) had abnormal findings on a-CGH. 22q11.2 deletion syndrome was the most common (4/11, 36.4%). On the first a-CGH, 4 patients were negative (4/81, 5%). Three of them were finally diagnosed with Williams syndrome using fluorescent in situ hybridization (FISH), 1 patient was diagnosed with Noonan syndrome through exome sequencing. All of them exhibited diffuse pulmonary artery branch hypoplasia, as well as increased velocity of blood flow, on repeated echocardiography. Five patients started rehabilitation therapy at mean 6 months old age in outpatient clinics and epilepsy was diagnosed in 2 patients. Parents of 2 patients (22q11.2 deletion syndrome and Patau syndrome) refused treatment due to the anticipated prognosis. Conclusions: Screening tests for genetic abnormalities using a-CGH in neonates with CHD has the advantage of early diagnosis of genetic abnormality during the neonatal period in which there is no obvious symptom of genetic abnormality. However, there are disadvantages that some genetic abnormalities cannot be identified on a-CGH.

키워드

과제정보

연구 과제 주관 기관 : Kyungpook National University Hospital

참고문헌

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피인용 문헌

  1. The prevalence of genetic diagnoses in fetuses with severe congenital heart defects vol.22, pp.7, 2018, https://doi.org/10.1038/s41436-020-0791-8