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Prenatal and postnatal prevalence of Turner's syndrome

BMJ 1996; 313 doi: (Published 06 July 1996) Cite this as: BMJ 1996;313:47

Data presented were insufficient to challenge specificity of prenatal diagnosis

  1. C J M Van Der Sijs-Bos,
  2. R H Stigter,
  3. G C M L Christiaens,
  4. N J Leschot
  1. Data were collected by the Dutch Working Party on Prenatal Diagnosis.
  2. Clinical geneticist Clinical Genetic Centre, Utrecht, Netherlands
  3. Gynaecologist Gynaecologist University Hospital, Utrecht
  4. Clinical geneticist University of Amsterdam, Institute of Human Genetics, Amsterdam, Netherlands

    EDITOR,—Claus H(empty set)jbjerg Gravholt and colleagues challenge the specificity of prenatal examination in the diagnosis of Turner's syndrome.1 This challenge is not supported by the data provided.

    Firstly, postnatal karyotyping was performed in only 13 of 100 cases. Postnatal karyotypes in cases of fetal death or terminated pregnancy (76%) were unavailable. Fetal death occurs more commonly in non-mosaic Turner's syndrome. Termination is more likely when there are additional ultrasonographic findings. The authors did not correct for anatomical defects detected after cytogenetic diagnosis. These …

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