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Fetal polydactyly: a study of 24 cases ascertained by prenatal sonography

Isabel Filges1, Anjeung Kang, Jürgen Hench

  • 1Division of Medical Genetics and Department of Biomedicine, University Children's Hospital, Burgfelderstrasse 101, Building J, 4005 Basel, Switzerland. isabel.filges@unibas.ch

Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
|June 28, 2011
PubMed

Insights

Fetal polydactyly evaluation relies on family history and anomaly scans. Genetic testing, including fetal karyotyping and array comparative genomic hybridization, aids in diagnosing chromosomal abnormalities and predicting outcomes.

Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Fetal Medicine

Background:

  • Fetal polydactyly is a congenital anomaly requiring thorough investigation.
  • Understanding its genetic basis and associated conditions is crucial for prognosis.

Purpose of the Study:

  • To review cases of fetal polydactyly to identify key diagnostic factors.
  • To assess the utility of genetic testing in cases of fetal polydactyly.

Main Methods:

  • Retrospective review of 24 pregnancies with fetal polydactyly.
  • Analysis of polydactyly type, family history, sonographic findings, genetic tests, and postnatal/postmortem examinations.

Main Results:

  • Family history and associated anomalies on specialized scans are important indicators.
  • Fetal karyotyping identified chromosomal anomalies in approximately 50% of cases with additional malformations.
  • Array comparative genomic hybridization shows potential for detecting subtle chromosomal issues.

Conclusions:

  • Fetal polydactyly assessment benefits from family history and detailed anomaly scans.
  • Genetic testing, including karyotyping and array CGH, is vital for diagnosing chromosomal anomalies.
  • Monogenic syndromic disorders necessitate interdisciplinary assessment for diagnosis and prognosis.

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