The Journal of Bone and Joint Surgery (American). 2009;91:31-39.
doi:10.2106/JBJS.I.00072
© 2009 The Journal of Bone and Joint Surgery, Inc.
Prenatal Diagnosis and Treatment of Congenital Differences of the Hand and Upper Limb
Donald S. Bae, MD1,
Carol E. Barnewolt, MD2 and
Russell W. Jennings, MD3
1 Department of Orthopaedic Surgery, Children's Hospital Boston, 300 Longwood Avenue, Hunnewell 2, Boston, MA 02115. E-mail address: donald.bae@childrens.harvard.edu
2 Section of Fetal Imaging, Division of Pediatric Ultrasound, Children's Hospital Boston, 300 Longwood Avenue, Boston, MA 02115
3 Advanced Fetal Care Center, Children's Hospital Boston, 300 Longwood Avenue, Boston, MA 02115
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Introduction
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Prenatal detection of congenital abnormalities is increasing, along with the evolving technology and widespread use of ultrasonography in prenatal screening. Musculoskeletal anomalies are noted during prenatal ultrasonography in approximately six of every 1000 pregnancies (0.6%), although approximately 1% to 2% of all newborns have some type of congenital difference and the musculoskeletal system is affected in 10% to 20% of these infants (0.1% to 0.4% of newborns)1,2. The prevalence of skeletal dysplasia is 2.4 per 10,000 live births (0.02%), and the prevalence of limb deficiency is 0.49 per 10,000 births (<0.01%)1,3-5.
The discrepancies between the prevalence of musculoskeletal anomalies seen during prenatal screening and the observed rate of congenital differences in the general population of newborns are likely due to a combination of factors, including selection bias (higher risk patients are more likely to be screened), the fact that many musculoskeletal anomalies are associated with systemic conditions that . . . [Full Text of this Article]

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