These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Prenatal diagnosis of the skeletal dysplasias.
    Author: Sharony R, Browne C, Lachman RS, Rimoin DL.
    Journal: Am J Obstet Gynecol; 1993 Sep; 169(3):668-75. PubMed ID: 8372878.
    Abstract:
    OBJECTIVE: We examined the accuracy of prenatal diagnosis of skeletal dysplasias and ways to refine this ability. STUDY DESIGN: A total of 226 fetuses and stillbirths referred for suspected skeletal dysplasia were evaluated. The fetal age, mode of ascertainment, and referring diagnosis were analyzed with regard to the final diagnosis. RESULTS: The leading mode of diagnosis was routine ultrasonography performed between 16 and 24 weeks' gestation. Twenty-two cases (9.7%) had previous sibs, parents, or cousins affected. The most common final diagnosis was osteogenesis imperfecta. In 15 cases (7%) the fetus did not appear to have a skeletal dysplasia or an obvious dysmorphic syndrome. CONCLUSIONS: Prenatal diagnosis of skeletal dysplasia can be made as early as 14 weeks. Most cases are sporadic. Fetal radiographs help in reaching an accurate diagnosis or at least in identifying the probable lethal disorders.
    [Abstract] [Full Text] [Related] [New Search]