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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 11 - 16 (6page)
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초록· 키워드
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ObjectiveTo analyze the spectrum of prenatally diagnosed congenital heart disease in a Korean population with 22q11.2 deletion syndrome, and to provide guidelines for screening 22q11.2 deletion prenatally.
MethodsThis retrospective study evaluated 1,137 consecutive fetuses that had prenatal genetic testing for 22q11.2 deletion because of suspected congenital heart disease between September 2002 and December 2012, at Asan Medical Center, Seoul, Korea.
ResultsMain cardiovascular diseases in the 53 fetuses with confirmed 22q11.2 deletions were tetralogy of Fallot (n = 24, 45%), interrupted aortic arch (n = 10, 19%), ventricular septal defect (n = 5, 9%), double outlet right ventricle (n = 4, 8%), and coarctation of the aorta (n = 4, 8%). Other cardiac defects were rarely associated with 22q11.2 deletion. One fetus had persistent truncus arteriosus, one had aortic stenosis, and one had hypoplastic right heart syndrome. Two fetuses had normal intracardiac anatomy with an isolated right aortic arch, and one had an isolated bilateral superior vena cava.
ConclusionA variety of congenital heart diseases were seen during the prenatal period. Conotruncal cardiac defects except transposition of great arteries were strongly associated with 22q11.2 deletion. When such anomalies are diagnosed by fetal echocardiography, genetic testing for 22q11.2 deletion should be offered. Even if less frequent deletion-related cardiac defects are detected, other related anomalies, such as thymic hypoplasia or aplasia, should be evaluated to rule out a 22q11.2 deletion.
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참고문헌 (23)
참고문헌 신청
Boudjemline Y / 2001 / Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: a 6-year prospective study / J Pediatr 138 : 520 ~ 524
Bretelle F / 2010 / Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome / Eur J Med Genet 53 : 367 ~ 370
Chaoui R / 2002 / Absent or hypoplastic thymus on ultrasound:a marker for deletion 22q11.2 in fetal cardiac defects / Ultrasound Obstet Gynecol 20 : 546 ~ 552
Driscoll DA / 1991 / Antenatal diagnosis of DiGeorge syndrome / Lancet 338 : 1390 ~ 1391
Driscoll DA / 2001 / Prenatal diagnosis of the 22q11.2 deletion syndrome / Genet Med 3 : 14 ~ 18
Bretelle F / 2010 / Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome / Eur J Med Genet 53 : 367 ~ 370
Chaoui R / 2002 / Absent or hypoplastic thymus on ultrasound:a marker for deletion 22q11.2 in fetal cardiac defects / Ultrasound Obstet Gynecol 20 : 546 ~ 552
Driscoll DA / 1991 / Antenatal diagnosis of DiGeorge syndrome / Lancet 338 : 1390 ~ 1391
Driscoll DA / 2001 / Prenatal diagnosis of the 22q11.2 deletion syndrome / Genet Med 3 : 14 ~ 18
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