Objective To assess the types and numbers of cases, gestational age at specific prenatal diagnosis and diagnostic accuracy of the diagnosis of skeletal dysplasias in a prenatal population from a single tertiary center. (88% and 89%, respectively) at the first diagnostic examination. Methods

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Objective To compare the sonographic findings of the nasal bone in fetuses with trisomy 21 with pathomorphological findings to determine whether the bone is truly absent.Methods Seventeen first-trimester fetuses with trisomy 21 were identified; the median gestational age was 12 weeks (range, 11-14) and the median maternal age was 38 (range, 27-47) 'present' and 'absent', but instead between 'normal' and 'hypoplastic'. For reproducible results it is necessary to standardize the sonographic examination. The sonographic landmarks of the fetal nose are: the nasal bone, the skin above and the cartilaginous tip of the nose.

Fetal tissues from 16 spontaneous abortions, two terminations, and one perinatal death, 18 of which were associated with maternal human parvovirus B19 infection, were examined for B19 infection by histology and in situ hybridization using a digoxigenin-labeled B19-DNA probe. In 15 spontaneous abortions and one termination, erythroblasts with intranuclear inclusions (lantern cells) reacted with B19-DNA by in situ hybridization. No internal or external fetal malformations were observed. Because 13 (86.7%) spontaneous abortions with lantern cells occurred between the 20th and 28th weeks of gestation, it is postulated that B19 infection may be a particular threat to the fetus during this stage of gestation.

Among 1547 patients undergoing first-trimester prenatal diagnosis, 100 fetal chromosome aberrations were detected. Thirteen of these involved chromosome 18. In two structural abnormalities of chromosome 18, the aberration could be excluded in amniotic fluid cells and two healthy infants were born. Trisomy 18 was not confirmed in amniotic fluid cells in three trisomy 18 mosaics. In eight non-mosaic trisomy 18 first-trimester diagnoses, the diagnosis was excluded by amniotic fluid cells or fetal cultures in four, and confirmed in the remaining four. Diagnosis of chromosome 18 aberrations in the direct preparation should be confirmed in the long-term culture of the chorionic villus sample or by amniotic fluid cultures.