Meizner I, Barnhard Y
Department of Obstetrics and Gynaecology, Soroka Medical Centre, Beer-Sheva, Israel.
Prenat Diagn. 1995 Jul;15(7):665-8. doi: 10.1002/pd.1970150713.
The prenatal diagnosis of skeletal dysplasias is often initiated by the finding of a shortened extremity during a routine sonographic examination. Second-trimester diagnosis of these anomalies allows the couple to consider the option of terminating a pregnancy when a lethal anomaly is detected. A 21-year-old Bedouin woman underwent routine ultrasonographic screening at 20 weeks' gestation. Severe micromelia, a narrow thorax with shortened ribs, and postaxial polydactyly were detected. The patient delivered a male dwarf at 20 weeks' gestation following prostaglandin induction of labour for a diagnosis of short-rib polydactyly syndrome type III. The prenatal ultrasonographic diagnosis of short-rib polydactyly syndrome type III was made at 20 weeks' gestation, allowing termination of the pregnancy. A proper sonographic approach to skeletal dysplasias allows both early detection and differentiation between lethal and non-lethal anomalies.
骨骼发育异常的产前诊断通常始于在常规超声检查中发现肢体缩短。孕中期对这些异常的诊断使夫妇在检测到致死性异常时能够考虑终止妊娠的选择。一名21岁的贝都因女性在妊娠20周时接受了常规超声筛查。检测到严重的短肢畸形、胸廓狭窄伴肋骨缩短以及轴后多指畸形。患者在妊娠20周时因诊断为III型短肋多指综合征而在前列腺素引产下分娩出一名男性侏儒。妊娠20周时做出了III型短肋多指综合征的产前超声诊断，从而得以终止妊娠。对骨骼发育异常采用适当的超声检查方法能够实现早期检测以及区分致死性和非致死性异常。
