PRENATAL-DIAGNOSIS OF THE SKELETAL DYSPLASIAS

被引:54
作者
SHARONY, R
BROWNE, C
LACHMAN, RS
RIMOIN, DL
机构
[1] CEDARS SINAI MED CTR,DEPT PEDIAT,MED GENET BIRTH DEFECTS CTR,8700 BEVERLY BLVD,SUITE 4310,LOS ANGELES,CA 90048
[2] UNIV CALIF LOS ANGELES,LOS ANGELES CTY HARBOR MED CTR,TORRANCE,CA 90509
[3] UNIV CALIF LOS ANGELES,SCH MED,LOS ANGELES,CA 90024
[4] CEDARS SINAI MED CTR,AHMANSON PEDIAT CTR,LOS ANGELES,CA 90048
[5] CEDARS SINAI MED CTR,STEVEN SPIELBERG PEDIAT RES CTR,LOS ANGELES,CA 90048
关键词
PRENATAL DIAGNOSIS; SKELETAL DYSPLASIA;
D O I
10.1016/0002-9378(93)90641-U
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
OBJECTIVE: We examined the accuracy of prenatal diagnosis of skeletal dysplasias and ways to refine this ability. STUDY DESIGN: A total of 226 fetuses and stillbirths referred for suspected skeletal dysplasia were evaluated. The fetal age, mode of ascertainment, and referring diagnosis were analyzed with regard to the final diagnosis. RESULTS: The leading mode of diagnosis was routine ultrasonography performed between 16 and 24 weeks' gestation, Twenty-two cases (9.7%) had previous sibs, parents, or cousins affected. The most common final diagnosis was osteogenesis imperfecta. In 15 cases (7%) the fetus did not appear to have a skeletal dysplasia or an obvious dysmorphic syndrome. CONCLUSIONS: Prenatal diagnosis of skeletal dysplasia can be made as early as 14 weeks. Most cases are sporadic. Fetal radiographs help in reaching an accurate diagnosis or at least in identifying the probable lethal disorders.
引用
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页码:668 / 675
页数:8
相关论文
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