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Midtrimester chorionic villus sampling: an alternative approach?

A D Cameron1, K W Murphy, M B McNay

  • 1Department of Obstetrics and Gynaecology, Queen Mother's Hospital, Yorkhill, Glasgow, United Kingdom.

American Journal of Obstetrics and Gynecology
|October 1, 1994
PubMed
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Midtrimester chorionic villus sampling is a rapid and reliable method for diagnosing autosomal trisomy after positive maternal serum screening. This invasive procedure offers a low complication rate and high diagnostic yield.

Area of Science:

  • Prenatal Diagnostics
  • Genetics
  • Obstetrics

Background:

  • Maternal serum screening identifies pregnancies at increased risk for autosomal trisomy.
  • Accurate and timely cytogenetic analysis is crucial for informed reproductive decisions.

Purpose of the Study:

  • To evaluate the efficacy and safety of midtrimester chorionic villus sampling (CVS) following positive maternal serum screening for autosomal trisomy.
  • To assess the turnaround time and diagnostic accuracy of CVS.

Main Methods:

  • Chorionic villus sampling was offered to all women with positive screening results between January 1990 and July 1993.
  • Direct karyotyping and culture methods were used for genetic analysis.
  • Data on procedure success, karyotype results, and complications were collected.

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Main Results:

  • 551 CVS procedures were performed with a mean gestational age of 18.2 weeks.
  • Karyotype results were obtained in 99.6% of cases, with a mean turnaround time of 4.4 days for direct and 20.2 days for culture.
  • Fourteen abnormal karyotypes were detected, including five cases of placental mosaicism and one false-positive.
  • The procedure-related loss rate was 0.4%.

Conclusions:

  • Midtrimester CVS is a rapid, reliable, and safe method for karyotyping in pregnancies with positive screening results for autosomal trisomy.
  • Its complication rate is comparable to other invasive prenatal diagnostic procedures.
  • CVS provides a high diagnostic yield and is easier to perform than cordocentesis.