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Cordocentesis for rapid karyotype: 421 consecutive cases

C Donner1, F Rypens, V Paquet

  • 1Department of Obstetrics and Gynecology, Hôpital Erasme, Université Libre de Bruxelles, Belgium.

Fetal Diagnosis and Therapy
|May 1, 1995
PubMed
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Fetal blood sampling via cordocentesis is a safe method for rapid karyotyping in pregnancies with abnormal sonograms. This diagnostic approach identified chromosomal abnormalities in 9.5% of cases, including common trisomies.

Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Fetal Medicine

Background:

  • Prenatal diagnosis relies on accurate karyotyping for identifying fetal chromosomal abnormalities.
  • Ultrasonography plays a crucial role in detecting fetal structural anomalies, guiding the need for further genetic testing.
  • Cordocentesis offers a method for obtaining fetal blood for rapid genetic analysis.

Purpose of the Study:

  • To evaluate the safety, efficacy, and diagnostic yield of cordocentesis for rapid karyotyping.
  • To assess the complication rates, specifically fetal loss, associated with fetal blood sampling.
  • To determine the utility of cordocentesis in pregnancies with abnormal sonographic findings.

Main Methods:

  • Retrospective analysis of 426 fetal blood sampling procedures for rapid karyotyping between October 1985 and December 1993.

Related Experiment Videos

  • Inclusion of cases with abnormal pregnancy sonograms as a primary indication.
  • Calculation of fetal loss rates possibly related to the procedure.

    • Main Results:

    • The fetal loss rate possibly related to fetal blood sampling was 1.9%.
    • Abnormal sonograms accounted for 91% of indications for rapid karyotyping.
    • Chromosomal abnormalities were detected in 9.5% of abnormal sonograms and 16.9% of cases with fetal structural anomalies, with trisomy 21 being the most common.

    Conclusions:

    • Cordocentesis is a safe and reliable method for rapid fetal karyotyping, particularly in cases with abnormal sonograms.
    • The procedure carries a higher risk compared to other indications like congenital infections.
    • The high prevalence of chromosomal abnormalities supports the use of ultrasonographic screening in populations not routinely undergoing cytogenetic studies.