Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome
Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome
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DOI：
10.1016/j.ejmg.2010.07.008
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发表时间：
2010-11-01
影响因子：
1.9
通讯作者：
Philip, Nicole
中科院分区：
文献类型：
--
作者：
Bretelle, Florence;Beyer, Laura;Philip, Nicole
染色体22q11.2微缺失是人类最常见的缺失综合征，包括广泛的异常。许多临床或超声检查结果可能支持缺失研究，无论是在子宫内或在出生后的时期。本研究的目的是评估在一个遗传学中心12年期间22q11.2缺失诊断的情况。在883例病例中进行了22q11.2缺失检测。先天性心脏缺陷是转诊的最常见原因。在169例妊娠中，8例胎儿（4.7%）检出产前22q11.2微缺失，均表现为圆锥动脉干异常。在一例产前诊断中，轻度患病的父亲发现了该缺失，对家庭产生了负面影响。在同一时期，714例年龄从出生到42岁的患者中有81例（11.3%）被诊断为出生后22q11.2 DS（p = 0.02）。37例（45.7%）存在CHD。这一数字明显低于通常报告的75%。这些结果表明，缺失研究可能是合理的胎儿与非心脏产前超声检查结果已报告与22q11.2 DS。然而，由于大多数这些畸形是相当常见和非特异性的，系统的22q11.2测试是不合理的。在这种情况下，仔细的心脏和胸腺检查可以为22q11.2检测提供额外的线索。此外，在产前或产后检查之前，应向父母提供准确的信息，包括临床表型的广泛变异性，不可能建立关于精神发育和精神风险的精确预后。(C)2010年由Elsevier Masson SAS出版。
Microdeletion of chromosome 22q11.2, the most common human deletion syndrome encompasses a wide spectrum of abnormalities. Many clinical or ultrasonographic findings may support deletion studies, either in utero or in the post-natal period. The objective of our study was to evaluate the circumstances of 22q11.2 deletion diagnosis in a single centre of genetics during a 12 years period. Testing for 22q11.2 deletion was performed in 883 cases. Congenital heart defect was the most common reason for referral. An antenatal 22q11.2 microdeletion was detected in 8 fetuses (4.7%) among 169 pregnancies, all presenting conotruncal anomalies. In one case prenatal diagnosis led to the identification of the deletion in the mildly affected father and had negative impact on the family. During the same period, postnatal 22q11.2 DS was diagnosed in 81 out of 714 patients aged from birth to 42 years (11.3%) (p = 0.02). A CHD was present in 37 (45.7%). This figure is significantly lower than the 75% commonly reported. These results suggest that deletion studies could be justifiable in fetuses with non-cardiac prenatal sonographic findings that have been reported in association with 22q11.2 DS. However, as most of these malformations are rather common and non specific, systematic 22q11.2 testing is not justifiable. In such cases, careful cardiac and thymus examination could provide additional clues for 22q11.2 testing. In addition parents should be given accurate information before antenatal or postnatal testing, including the wide variability of the clinical phenotype, the impossibility to establish a precise prognosis concerning psychomotor development and psychiatric risks. (C) 2010 Published by Elsevier Masson SAS.