Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA.
Genet Med. 2010 Mar;12(3):135-44. doi: 10.1097/GIM.0b013e3181cdeb9a.
The highly variable 22q11 deletion syndrome has been proposed for addition to newborn screening panels. A literature review investigated the incidence and prevalence, clinical features, and prognosis of 22q11 deletion syndrome and other issues related to newborn screening. Severe complications that could potentially be helped by screening include cardiac defects in 80% (with 20% having no outward signs to aid detection), hypocalcemia that can lead to seizures in 20% (though hypocalcemia is routinely investigated in sick newborns), and severe immune deficiency in <1% (which would be identified by some states' severe combined immunodeficiency screens). Other benefits that do not fit traditional goals of newborn screening include treatment for complications such as failure to thrive and developmental delay or preventing a "diagnostic odyssey." Although universal screening may prove the incidence to be >1:5000, undetected life-threatening effects occur in a minority of 22q11 deletion syndrome patients. Concerns include an untested screening technique, difficulty obtaining results in time for cardiac intervention, the chance of "vulnerable child syndrome" in mild cases, and possibly detecting congenital heart disease more efficiently by other means. Because addition of tests for highly variable conditions such as 22q11 deletion syndrome is likely to set a precedent for other syndromes, reevaluation of newborn screening criteria should be considered.
高度可变的 22q11 缺失综合征已被提议纳入新生儿筛查项目中。文献回顾调查了 22q11 缺失综合征的发病率、患病率、临床特征和预后，以及与新生儿筛查相关的其他问题。通过筛查可能有助于治疗的严重并发症包括 80%的心脏缺陷（其中 20%没有外在迹象可以帮助发现）、20%可能导致癫痫的低钙血症（尽管低钙血症通常在生病的新生儿中进行检查）和<1%的严重免疫缺陷（一些州的严重联合免疫缺陷筛查可以发现）。不符合新生儿筛查传统目标的其他益处包括治疗生长发育迟缓等并发症或预防“诊断困境”。尽管普遍筛查可能证明发病率>1:5000，但少数 22q11 缺失综合征患者仍存在未被发现的危及生命的影响。关注的问题包括未经测试的筛查技术、及时获得心脏干预结果的困难、轻度病例中“脆弱儿童综合征”的可能性，以及通过其他手段更有效地检测先天性心脏病的可能性。由于添加 22q11 缺失综合征等高度可变疾病的检测可能为其他综合征设定先例，因此应考虑重新评估新生儿筛查标准。
