Baker E R, Goldberg M J
Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA.
Semin Perinatol. 1994 Aug;18(4):283-91.
The prenatal diagnosis of skeletal dysplasias is a challenging task due to the varied manifestations of the disorders and the great number of possible diagnoses. This difficulty will likely remain until DNA mutations are identified that will permit a specific diagnosis. Until then, the use of a multidisciplinary team is suggested for clinical diagnosis and management. Use of a systematic approach to diagnosis such as our "10-step" system is a valuable tool to decrease the complexity of the diagnostic process. Even if it does not lead to a specific diagnosis, it allows one to predict the likelihood of a severe or lethal disorder. A cautious approach to prenatal diagnosis of skeletal dysplasias is warranted due to the uncertainties inherent in clinical diagnosis of these disorders. Until specific DNA testing or rapid collagen analysis are available for the more common defects, errors in diagnosis and counseling that follow may result in termination of normal fetuses and, conversely, in continuation of pregnancies with lethal anomalies or severely affected fetuses.
由于骨骼发育异常疾病的表现多样且可能的诊断众多，其产前诊断是一项具有挑战性的任务。在确定能进行特定诊断的DNA突变之前，这一困难可能会一直存在。在此之前，建议组建多学科团队进行临床诊断和管理。采用系统的诊断方法，如我们的“十步法”，是降低诊断过程复杂性的宝贵工具。即便不能得出特定诊断，它也能让人预测严重或致死性疾病的可能性。鉴于这些疾病临床诊断中存在的不确定性，对骨骼发育异常进行谨慎的产前诊断是有必要的。在针对更常见缺陷的特定DNA检测或快速胶原蛋白分析可用之前，后续诊断和咨询中的错误可能导致正常胎儿被终止妊娠，反之，也可能导致携带致死性异常或严重受影响胎儿的妊娠继续下去。
