Antenatal diagnosis of lethal skeletal dysplasias

Anne E. Tretter, Roger C. Saunders, Carol M. Meyers, Jeffrey S. Dungan, Kathryn Grumbach, Chen Chih J Sun, Andrew B. Campbell, Eric A. Wulfsberg*

*Corresponding author for this work

Research output: Contribution to journalArticle

78 Scopus citations

Abstract

Lethal skeletal dysplasias (LSD) are a heterogeneous group of rare but important genetic disorders characterized by abnormal growth and development of bone and cartilage. We describe the diagnosis and outcome of 29 cases of lethal skeletal dysplasias evaluated between January 1989 and December 1996 at the University of Maryland Medical Center and the Ultrasound Institute of Baltimore. Two cases presented at delivery with no prenatal care while the remaining 27 cases were identified by antenatal sonography. Final diagnoses included than atophoric dysplasia (14), osteogenesis imperfecta, type II (6), achondrogenesis (2), short rib syndromes (3), campomelic syndrome (2), atelosteogenesis (1), and no evidence of a skeletal dysplasia (1). Twenty out of 27 pregnancies were terminated with an average at detection of 21.6 weeks. The other 7 pregnancies that went on to deliver had an average age at detection of 29.2 weeks. Fetal abnormalities in the terminated pregnancies were identified at a significantly earlier gestational age (P = 0.0016) than the pregnancies that continued. While the identification of LSD by sonography was excellent (26/27), only 13/27 (48%) were given an accurate specific antenatal diagnosis. In 8/14 (57%) cases with an inaccurate or nonspecific diagnosis there was a significant or crucial change in the genetic counseling. Thus, while antenatal sonography is an excellent method for discovering LSD, clinical examination, radiographs, and autopsy are mandatory for making a specific diagnosis.

Original languageEnglish (US)
Pages (from-to)518-522
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume75
Issue number5
DOIs
StatePublished - Feb 17 1998

Keywords

  • Fetal
  • Genetic counseling
  • Lethal
  • Osteochondrodysplasia
  • Prenatal diagnosis
  • Skeletal dysplasia
  • Ultrasonography

ASJC Scopus subject areas

  • Genetics(clinical)

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  • Cite this

    Tretter, A. E., Saunders, R. C., Meyers, C. M., Dungan, J. S., Grumbach, K., Sun, C. C. J., Campbell, A. B., & Wulfsberg, E. A. (1998). Antenatal diagnosis of lethal skeletal dysplasias. American Journal of Medical Genetics, 75(5), 518-522. https://doi.org/10.1002/(SICI)1096-8628(19980217)75:5<518::AID-AJMG12>3.0.CO;2-N