[Status of ultrasound and roentgen diagnosis in prenatal detection of osteochondrodysplasias].
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.
Meinel
K
K
Gynäkologischen Abteilung, Krankenhauses St. Elisabeth, Leipzig.
Himmel
D
D
D000328:Adult; D001842:Bone and Bones / Q000473:pathology; D002806:Chondrodysplasia Punctata / Q000473:pathology; D004613:Ellis-Van Creveld Syndrome / Q000473:pathology; D005260:Female; D005313:Fetal Death / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000473:pathology*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013796:Thanatophoric Dysplasia / Q000473:pathology; D014463:Ultrasonography
Zum Stellenwert der Ultraschall- und Röntgendiagnostik bei der pränatalen Erfassung letaler Osteochondrodysplasien.