Marion R W, Chitayat D, Hutcheon R G, Neidich J A, Zackai E H, Singer L P, Warman M
Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York 10467-2490.
J Pediatr. 1988 Jul;113(1 Pt 1):45-8. doi: 10.1016/s0022-3476(88)80526-2.
We developed a bedside scoring system for diagnosis of trisomy 18 in the immediate neonatal period. Points are assigned for the presence of features known to occur in trisomy 18: five points for the presence of features previously reported in 50% or more of affected infants; three points for features reported to occur in between 10% and 50% of affected individuals; and one point for features known to occur in less than 10% of infants with the disorder. Using the scoring system, we evaluated two cohorts of patients: those in whom a diagnosis of trisomy 18 was previously established (retrospective group) and those in whom the diagnosis was suspected but not yet proved (prospective group). The average score in the retrospective series (n = 25) was 96.7, and no patient scored less than 70. Twenty-two patients were evaluated prospectively; in all cases the presence or absence of trisomy 18 was correctly predicted. The average score in the 11 patients without trisomy 18 was 41.4, and all patients scored 60 or less. In the 11 patients confirmed to have trisomy 18, the average score was 94.3, with a range of 70 to 113. This scoring system is an accurate, reproducible method for predicting trisomy 18 in neonates with multiple congenital malformations.
我们开发了一种用于在新生儿期即刻诊断18三体综合征的床旁评分系统。根据已知在18三体综合征中出现的特征来分配分数：在50%或更多受影响婴儿中出现的特征得5分；在10%至50%受影响个体中出现的特征得3分；在不到10%患有该疾病的婴儿中出现的特征得1分。使用该评分系统，我们评估了两组患者：先前已确诊为18三体综合征的患者（回顾性组）和疑似但尚未证实诊断的患者（前瞻性组）。回顾性系列（n = 25）的平均分数为96.7，没有患者得分低于70分。对22例患者进行了前瞻性评估；在所有病例中，18三体综合征的存在与否均被正确预测。11例无18三体综合征的患者平均分数为41.4，所有患者得分均为60分或更低。在11例确诊为18三体综合征的患者中，平均分数为94.3，范围为70至113分。该评分系统是一种准确、可重复的方法，用于预测患有多种先天性畸形的新生儿中的18三体综合征。
