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Discrepant karyotypes after second- and third-trimester combined placentacentesis/amniocentesis
D Caspari1, I Bartels, R Rauskolb
1Institut für Humangenetik, Göttingen, Germany.
Prenatal Diagnosis
|July 1, 1994
Summary
This study evaluated the accuracy of short-time culture of chorionic villi (CVS-SC) for prenatal diagnosis. CVS-SC demonstrated high accuracy (98%) in detecting fetal chromosomal abnormalities, but with a lower sensitivity for certain abnormal karyotypes.
Area of Science:
- Prenatal diagnosis
- Cytogenetics
- Fetal medicine
Background:
- Accurate prenatal diagnosis is crucial for managing pregnancies.
- Chorionic villi sampling (CVS) and amniocentesis are common prenatal diagnostic procedures.
- Short-time culture of chorionic villi (CVS-SC) offers rapid results but requires validation against amniotic fluid cell cultures (AC).
Purpose of the Study:
- To compare the diagnostic accuracy of CVS-SC with AC.
- To determine the sensitivity and specificity of CVS-SC for detecting fetal chromosomal abnormalities.
- To assess the rate of discrepant results between CVS-SC and AC.
Main Methods:
- Simultaneous sampling of chorionic villi and amniotic fluid from 1306 pregnancies.
- Short-time culture of chorionic villi (CVS-SC) and amniotic fluid cell cultures (AC).
- Cytogenetic analysis of both sample types to compare results.
Main Results:
- Concordant results were obtained in 98% of pregnancies.
- CVS-SC accuracy was 98%, with specificity of 98.6% and sensitivity of 87.3%.
- 26 cases (2%) showed discrepant results, including false positives and false negatives with CVS-SC.
Conclusions:
- CVS-SC is a highly accurate method for prenatal cytogenetic diagnosis.
- While generally reliable, CVS-SC may miss some fetal chromosomal abnormalities, necessitating careful interpretation.
- The study highlights the importance of correlating CVS-SC findings with AC results to ensure diagnostic accuracy.