Meinel K, Himmel D
Gynäkologischen Abteilung, Krankenhauses St. Elisabeth, Leipzig.
Zentralbl Gynakol. 1987;109(21):1303-13.
Ultrasound and X-ray investigation have a specific but complementary importance within the prenatal recording of lethal osteochondrodysplasia. In the prenatal diagnoses of thanatophoric dysplasia, asphyxiating thoracic dysplasia, chondrodysplasia punctata and achondroplasia we present our procedure for the investigation. All pregnant women are examined by ultrasound. Where the sonographical findings--according to our previous definition for the above mentioned diseases--suggest that they may be present we recommend referral to an institution with highly-specialized diagnostic possibilities for further investigation. Already in the II. trimester of pregnancy it is possible to make such group diagnoses by ultrasound. To give further specificity to the findings prenatal X-ray investigation should be done preferably in the III. trimester. The importance of confirming the diagnosis by either postnatal or postmortem X-ray investigation should be emphasized.
在致死性骨软骨发育不良的产前诊断中，超声和X线检查具有特定但互补的重要性。在致死性侏儒症、窒息性胸廓发育不良、点状软骨发育不良和软骨发育不全的产前诊断中，我们介绍了检查流程。所有孕妇均接受超声检查。根据我们之前对上述疾病的定义，如果超声检查结果提示可能存在这些疾病，我们建议转诊至具备高度专业化诊断能力的机构进行进一步检查。在妊娠中期就可以通过超声做出此类分组诊断。为了使检查结果更具特异性，产前X线检查最好在妊娠晚期进行。应强调通过产后或尸检X线检查来确诊的重要性。
