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[Turner syndrome].

C Monney1, G Pescia, M C Addor

  • 1Division autonome de génétique médicale, CHUV, Lausanne.

Schweizerische Medizinische Wochenschrift
|November 7, 2000
PubMed
Summary
This summary is machine-generated.

This study on Turner's syndrome found a 0.8% survival to birth rate, with hygroma colli and cardiac issues common in fetuses. Livebirths showed growth and facial differences but fewer complex malformations.

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Area of Science:

  • Genetics
  • Reproductive Medicine
  • Pediatrics

Context:

  • Analysis of 52 Turner's syndrome cases (1980-1996) from the Canton of Vaud Congenital Anomalies Registry.
  • Cytogenetic analysis primarily utilized maternal screening, sonography, and maternal age.
  • Focus on livebirths and fetal outcomes.

Purpose:

  • To determine the prevalence and survival rates of Turner's syndrome.
  • To describe morphological and chromosomal characteristics.
  • To analyze associated malformations and livebirth features.

Summary:

  • Complete monosomy X was the most frequent chromosomal abnormality.
  • Fetal morphology revealed high rates of hygroma colli (84%) and hydrops (63%), often with cardiac malformations.

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  • Liveborn infants exhibited growth retardation, pterygium colli, and facial dysmorphism, with rare complex malformations.

    • Impact:

    • Estimated probability of survival to birth is 0.8%.
    • Prevalence in all clinical pregnancies is estimated at 1.1%.
    • Provides crucial data for understanding Turner's syndrome prognosis and clinical presentation.