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1 results

  • 9 - Fetal dysmorphology: the role of the geneticist in the fetal medicine unit in targeting diagnostic tests

  • Edited by Sean Kehoe, Lyn Chitty, Tessa Homfray
  • Book:
    Reproductive Genetics
    Published online:
    05 February 2014
    Print publication:
    01 November 2009, pp 131-146

  • Summary

    The management of pregnancy at known high risk for fetal abnormality because of an affected family member can be more straightforward but there are still many cases where a joint consultation between the geneticist and fetal medicine unit could be advantageous. A specialist in fetal medicine would not be expected to know the variability of a condition, the likely gestation at which the abnormality could be identified or the prognosis of a rare disorder in the absence of the clinical geneticist. Abnormalities that may be identified at the early scan that warrant input from the geneticist include holoprosencephaly and omphalocele. Cleft lip and palate, arthrogryposis, hydrops, renal disorders and skeletal dysplasias can be better handled with the aid of the geneticist. Examination of parents and the family history can give helpful clues to the underlying diagnosis of a dysmorphic fetus and this is best done by the geneticist.