Nicolini U, Ferrazzi E, Kustermann A, Ravizza M, Pardi G
J Perinat Med. 1982;10(2):125-9.
During one year 26 cases of fetal malformations were diagnosed by means of ultrasound alone at the 1st Department of Obstetrics and Gynaecology of the University of Milano. Frequency of congenital defects first detected in the Centre was 5.6% which can be estimated to be approx. 25% of the anomalies detectable at birth in an unselected population. The total number of congenital defects detected was 31. A wrong diagnosis was done in two suspected cephaloceles resulted to be a cystic hygroma of the neck and a nuchal cephaloematoma while a pleural effusion was misdiagnosed as a thoracic cyst. On the other hand a precise evaluation of diagnostic errors (false negatives) has not been possible. Most malformations not detected by scanning involved splanchnic organs rather than central nervous system (Tab. V). Ultrasonic procedures for measurement of fetal head and trunk could partly account for this result. Termination of pregnancy was performed in 4 cases and post-partum surgical correction in 3 (Tab. I). Antenatal diagnosis of fetal malformations should be then considered as a major end-point of routine US.
在米兰大学第一妇产科，仅通过超声检查在一年内诊断出26例胎儿畸形。该中心首次检测到的先天性缺陷发生率为5.6%，据估计这大约是未经过筛选的人群中出生时可检测到的异常情况的25%。检测到的先天性缺陷总数为31例。有两例疑似脑膨出被误诊，结果分别是颈部水囊瘤和颈部头皮下血肿，还有一例胸腔积液被误诊为胸囊肿。另一方面，对诊断错误（假阴性）进行精确评估是不可能的。大多数未通过扫描检测到的畸形涉及内脏器官而非中枢神经系统（表五）。测量胎儿头部和躯干的超声检查方法可能部分解释了这一结果。4例进行了妊娠终止，3例进行了产后手术矫正（表一）。因此，胎儿畸形的产前诊断应被视为常规超声检查的一个主要终点。
