Literature DB >> 9602482

Prenatal sonographic diagnosis of skeletal dysplasias--a report of the diagnostic and prognostic accuracy in 35 cases.

G Gaffney1, N Manning, P A Boyd, V Rai, S Gould, P Chamberlain.   

Abstract

Sonographic assessment of the skeleton is a routine part of fetal anomaly scanning. We report a series of 35 cases seen during a 7-year interval in which a skeletal dysplasia was suspected prenatally. In seven (20 per cent) of the 35 cases, a specific diagnosis could not be made either pre- or postnatally. Follow-up was incomplete in one case. In 32 (91 per cent) of the 35 cases, prenatal sonographic examination correctly predicted the prognosis, although in only 11 (31 per cent) of the 35 cases was the suggested prenatal diagnosis proven to be correct. The difficulty of making an accurate prenatal sonographic diagnosis in fetuses with suspected skeletal dysplasias throughout gestation, especially in the third trimester, and the importance of comprehensive multidisciplinary postnatal assessment in these cases are emphasized.

Entities:  

Mesh:

Year:  1998        PMID: 9602482

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  8 in total

1.  Autopsy after termination of pregnancy for fetal anomaly: retrospective cohort study.

Authors:  P A Boyd; F Tondi; N R Hicks; P F Chamberlain
Journal:  BMJ       Date:  2003-12-08

Review 2.  Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality.

Authors:  Kathryn S Milks; Lyndon M Hill; Keyanoosh Hosseinzadeh
Journal:  Pediatr Radiol       Date:  2016-12-01

3.  Fetal magnetic resonance imaging of skeletal dysplasias.

Authors:  Leah A Gilligan; Maria A Calvo-Garcia; K Nicole Weaver; Beth M Kline-Fath
Journal:  Pediatr Radiol       Date:  2019-11-27

4.  Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.

Authors:  Deborah Krakow; Yasemin Alanay; Lauren P Rimoin; Victoria Lin; William R Wilcox; Ralph S Lachman; David L Rimoin
Journal:  Am J Med Genet A       Date:  2008-08-01       Impact factor: 2.802

5.  Foetal radiography for suspected skeletal dysplasia: technique, normal appearances, diagnostic approach.

Authors:  Alistair D Calder; Amaka C Offiah
Journal:  Pediatr Radiol       Date:  2014-08-31

Review 6.  Advances in evaluating the fetal skeleton.

Authors:  Ann-Edwidge Noel; Richard N Brown
Journal:  Int J Womens Health       Date:  2014-05-13

7.  Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.

Authors:  Deborah Krakow; Ralph S Lachman; David L Rimoin
Journal:  Genet Med       Date:  2009-02       Impact factor: 8.822

8.  Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.

Authors:  Lyn S Chitty; Asma Khalil; Angela N Barrett; Eva Pajkrt; David R Griffin; Tim J Cole
Journal:  Prenat Diagn       Date:  2013-02-14       Impact factor: 3.050

  8 in total

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