Abstract:
OBJECTIVE:To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with Down's syndrome. MATERIALS AND METHODS:Biometrical and morphological criteria, which are used for US prenatal detection of trisomy 21, were assessed. Limb long bones, biparietal diameter (BPD)/occipito-frontal diameter (OFD) ratio, ossification of nasal bones and appearance of the middle phalanx of the fifth digit (P2) in 60 fetuses with Down's syndrome were analysed and compared with 82 normal fetuses matched for gestational age (GA) from 15 to 40 weeks' gestation (WG). RESULTS:We observed reduced growth velocity of limb long bones during the third trimester in both groups, but the reduction was more pronounced in the trisomic group. Brachycephaly was found as early as 15 WG in Down's syndrome and continued throughout gestation (sensitivity 0.28, specificity 1). Ossification of the nasal bones, which can be detected in normal fetuses from 14 WG, was absent in one quarter of trisomic fetuses, regardless of GA. The middle phalanx of the fifth digit was evaluated by comparison with the distal phalanx (P3) of the same digit. We found that P2 was not ossified in 11/31 trisomic fetuses before 23 WG, and was either not ossified or hypoplastic in 17/29 cases after 24 WG (sensitivity 0.56, specificity 1). CONCLUSIONS:Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis.
journal_name
Pediatr Radioljournal_title
Pediatric radiologyauthors
Stempfle N,Huten Y,Fredouille C,Brisse H,Nessmann Cdoi
10.1007/s002470050675keywords:
subject
Has Abstractpub_date
1999-09-01 00:00:00pages
682-8issue
9eissn
0301-0449issn
1432-1998pii
90290682.247journal_volume
29pub_type
杂志文章abstract::In 196 children aged between 4 weeks and 16 2/12 years a sonographic investigation of kidneys was performed and put into relation to somatometric data including bodyweight (BW) bodylength (BL), length of the trunk and the upper and the lower limb, breadth of thorax and pelvic, head circumference, maximum cranial lengt...
journal_title:Pediatric radiology
pub_type: 杂志文章
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更新日期:1987-01-01 00:00:00
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journal_title:Pediatric radiology
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journal_title:Pediatric radiology
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journal_title:Pediatric radiology
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journal_title:Pediatric radiology
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journal_title:Pediatric radiology
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journal_title:Pediatric radiology
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journal_title:Pediatric radiology
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更新日期:1998-04-01 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF00975335
更新日期:1978-04-10 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章,评审
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更新日期:2017-06-01 00:00:00
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journal_title:Pediatric radiology
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journal_title:Pediatric radiology
pub_type: 杂志文章
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